H-InvDB x AHG DB
Protein view
H-InvDB_9.0 released on May 27, 2015.
Search by for Advanced Search
ホーム クイックガイド 検索ナビ BLAST サイトマップ データダウンロード 問い合わせ ヘルプ
H-Inv protein ID: HIP000115885 Last modified: 27-May-2015
Definition: Proactivator polypeptide; Contains: Saposin-A; Protein A; Contains: Saposin-B-Val; Contains: Saposin-B; Cerebroside sulfate activator; CSAct; Dispersin; Sphingolipid activator protein 1; SAP-1; Sulfatide/GM1 activator; Contains: Saposin-C; A1 activator; Co-beta-glucosidase; Glucosylceramidase activator; Sphingolipid activator protein 2; SAP-2; Contains: Saposin-D; Component C; Protein C; Precursor;
[Summery][Full]
[Protein Info][Member][Motif] 
provide location, ID and descriptions of functional motifs (InterPro)[Function] 
provide human-curated functional definition, similarity
category and related evidences;  Gene name; 
HUGO gene symbols; GO term; EC number; pathway information (KEGG)[PTM][Subcellular loc.] 
provide subcellular localization prediction by WolfPSORT, Target P, SOSUI, TMHMM and PTS1[Protein Structure][Evolutionary info.] 
provide orthologs relationships, phylogenic trees and sequence alignments[Polymorphism/repeat] 
provide polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information

Protein information
HIP ID HIP000115885
Length 524
Codon Adaptation Index (CAI). 0.822
Database links RefSeq NA
UniProt P07602 ;
CCDS P07602;
Original transcript information
Representative H-Inv transcript ID Transcript view HIT000191128
H-Inv cluster ID Locus view HIX0008908
Predicted CDS 39..1613 ; 524[aa] ; Orientation:+3 ;
Genomic location Chromosome 10
Location 10q22.1
CDS position 73576058-73611009
Strand -
Accession number BC001503.2
CAGE tag ID NA
EST ID NA
Clone Number NA
Experimental resources NBRC: NITE Biological Resource Center NBRC     Antibody: searching human antibodies at "BIO-kaimono.com" Antibody (PSAP) ;   Catalog: searching experimental product catalogs at "BIO-kaimono.com" Catalog (PSAP) ;
Length of cDNA 2767[bp] (No. of exon:14)[A:590 T:672 G:796 C:709] ;
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:5660 ;
KEGG GENES KEGG GENES(5660) ;
GeneCard GeneCard PSAP ;
etc H-GOLD Human-Gene diversity Of Life-style related Diseases ;
Protein view


Coresponding transcript member (s)
No.1
H-Inv IDTranscript view HIT000030459
H-Inv cluster IDLocus view HIX0008908
Accession numberBC001503.2
CAGE tag IDNA
EST IDNA
Coding potential Help Protein coding
DefinitionProactivator polypeptide; Contains: Saposin-A; Protein A; Contains: Saposin-B-Val; Contains: Saposin-B; Cerebroside sulfate activator; CSAct; Dispersin; Sphingolipid activator protein 1; SAP-1; Sulfatide/GM1 activator; Contains: Saposin-C; A1 activator; Co-beta-glucosidase; Glucosylceramidase activator; Sphingolipid activator protein 2; SAP-2; Contains: Saposin-D; Component C; Protein C; Precursor;
Similarity category HelpIdentical to known human protein(Category I).
Identical to known human protein (P07602) [Identity/coverage = 100.0%/100.0%] to Homo sapiens (Human). protein.
Transcript feature Help NA
Genomic Location G-integra Help Chromosome10
Location10q22.1
CDS position73576055-73610983
Strand-
Gene structure14 exons
No.2
H-Inv IDTranscript view HIT000031837
H-Inv cluster IDLocus view HIX0008908
Accession numberBC004275.1
CAGE tag IDNA
EST IDNA
Coding potential Help Protein coding
DefinitionProactivator polypeptide; Contains: Saposin-A; Protein A; Contains: Saposin-B-Val; Contains: Saposin-B; Cerebroside sulfate activator; CSAct; Dispersin; Sphingolipid activator protein 1; SAP-1; Sulfatide/GM1 activator; Contains: Saposin-C; A1 activator; Co-beta-glucosidase; Glucosylceramidase activator; Sphingolipid activator protein 2; SAP-2; Contains: Saposin-D; Component C; Protein C; Precursor;
Similarity category HelpIdentical to known human protein(Category I).
Identical to known human protein (P07602) [Identity/coverage = 100.0%/100.0%] to Homo sapiens (Human). protein.
Transcript feature Help NA
Genomic Location G-integra Help Chromosome10
Location10q22.1
CDS position73576055-73610991
Strand-
Gene structure14 exons
No.3
H-Inv IDTranscript view HIT000033332
H-Inv cluster IDLocus view HIX0008908
Accession numberBC007612.1
CAGE tag IDNA
EST IDNA
Coding potential Help Protein coding
DefinitionProactivator polypeptide; Contains: Saposin-A; Protein A; Contains: Saposin-B-Val; Contains: Saposin-B; Cerebroside sulfate activator; CSAct; Dispersin; Sphingolipid activator protein 1; SAP-1; Sulfatide/GM1 activator; Contains: Saposin-C; A1 activator; Co-beta-glucosidase; Glucosylceramidase activator; Sphingolipid activator protein 2; SAP-2; Contains: Saposin-D; Component C; Protein C; Precursor;
Similarity category HelpIdentical to known human protein(Category I).
Identical to known human protein (P07602) [Identity/coverage = 100.0%/100.0%] to Homo sapiens (Human). protein.
Transcript feature Help NA
Genomic Location G-integra Help Chromosome10
Location10q22.1
CDS position73576055-73610996
Strand-
Gene structure14 exons
No.4
H-Inv IDTranscript view HIT000099769
H-Inv cluster IDLocus view HIX0008908
Accession numberBT006849.1
CAGE tag IDNA
EST IDNA
Coding potential Help Protein coding
DefinitionProactivator polypeptide; Contains: Saposin-A; Protein A; Contains: Saposin-B-Val; Contains: Saposin-B; Cerebroside sulfate activator; CSAct; Dispersin; Sphingolipid activator protein 1; SAP-1; Sulfatide/GM1 activator; Contains: Saposin-C; A1 activator; Co-beta-glucosidase; Glucosylceramidase activator; Sphingolipid activator protein 2; SAP-2; Contains: Saposin-D; Component C; Protein C; Precursor;
Similarity category HelpIdentical to known human protein(Category I).
Identical to known human protein (P07602) [Identity/coverage = 100.0%/100.0%] to Homo sapiens (Human). protein.
Transcript feature Help NA
Genomic Location G-integra Help Chromosome10
Location10q22.1
CDS position73577198-73610978
Strand-
Gene structure14 exons
No.5
H-Inv IDTranscript view HIT000191119
H-Inv cluster IDLocus view HIX0008908
Accession numberJ03015.1
CAGE tag IDNA
EST IDNA
Coding potential Help Protein coding
DefinitionProactivator polypeptide; Contains: Saposin-A; Protein A; Contains: Saposin-B-Val; Contains: Saposin-B; Cerebroside sulfate activator; CSAct; Dispersin; Sphingolipid activator protein 1; SAP-1; Sulfatide/GM1 activator; Contains: Saposin-C; A1 activator; Co-beta-glucosidase; Glucosylceramidase activator; Sphingolipid activator protein 2; SAP-2; Contains: Saposin-D; Component C; Protein C; Precursor;
Similarity category HelpIdentical to known human protein(Category I).
Identical to known human protein (P07602) [Identity/coverage = 100.0%/100.0%] to Homo sapiens (Human). protein.
Transcript feature Help NA
Genomic Location G-integra Help Chromosome10
Location10q22.1
CDS position73576056-73610983
Strand-
Gene structure14 exons
No.6
H-Inv IDTranscript view HIT000191128
H-Inv cluster IDLocus view HIX0008908
Accession numberJ03077.1
CAGE tag IDNA
EST IDNA
Coding potential Help Protein coding
DefinitionProactivator polypeptide; Contains: Saposin-A; Protein A; Contains: Saposin-B-Val; Contains: Saposin-B; Cerebroside sulfate activator; CSAct; Dispersin; Sphingolipid activator protein 1; SAP-1; Sulfatide/GM1 activator; Contains: Saposin-C; A1 activator; Co-beta-glucosidase; Glucosylceramidase activator; Sphingolipid activator protein 2; SAP-2; Contains: Saposin-D; Component C; Protein C; Precursor;
Similarity category HelpIdentical to known human protein(Category I).
Identical to known human protein (P07602) [Identity/coverage = 100.0%/100.0%] to Homo sapiens (Human). protein.
Transcript feature Help Representative H-Inv IDRepresentative transcript; Splicing isoformSplicing isoform;
Genomic Location G-integra Help Chromosome10
Location10q22.1
CDS position73576058-73611009
Strand-
Gene structure14 exons
No.7
H-Inv IDTranscript view HIT000195459
H-Inv cluster IDLocus view HIX0008908
Accession numberM32221.1
CAGE tag IDNA
EST IDNA
Coding potential Help Protein coding
DefinitionProactivator polypeptide; Contains: Saposin-A; Protein A; Contains: Saposin-B-Val; Contains: Saposin-B; Cerebroside sulfate activator; CSAct; Dispersin; Sphingolipid activator protein 1; SAP-1; Sulfatide/GM1 activator; Contains: Saposin-C; A1 activator; Co-beta-glucosidase; Glucosylceramidase activator; Sphingolipid activator protein 2; SAP-2; Contains: Saposin-D; Component C; Protein C; Precursor;
Similarity category HelpIdentical to known human protein(Category I).
Identical to known human protein (P07602) [Identity/coverage = 100.0%/100.0%] to Homo sapiens (Human). protein.
Transcript feature Help NA
Genomic Location G-integra Help Chromosome10
Location10q22.1
CDS position73576609-73610983
Strand-
Gene structure14 exons

Motif information in predicted CDS
ORF

length(525),orf(39:1613)
MYALFLLASLLGAALAGPVLGLKECTRGSAVWCQNVKTASDCGAVKHCLQ
TVWNKPTVKSLPCDICKDVVTAAGDMLKDNATEEEILVYLEKTCDWLPKP
NMSASCKEIVDSYLPVILDIIKGEMSRPGEVCSALNLCESLQKHLAELNH
QKQLESNKIPELDMTEVVAPFMANIPLLLYPQDGPRSKPQPKDNGDVCQD
CIQMVTDIQTAVRTNSTFVQALVEHVKEECDRLGPGMADICKNYISQYSE
IAIQMMMHMQPKEICALVGFCDEVKEMPMQTLVPAKVASKNVIPALELVE
PIKKHEVPAKSDVYCEVCEFLVKEVTKLIDNNKTEKEILDAFDKMCSKLP
KSLSEECQEVVDTYGSSILSILLEEVSPELVCSMLHLCSGTRLPALTVHV
TQPKDGGFCEVCKKLVGYLDRNLEKNSTKQEILAALEKGCSFLPDPYQKQ
CDQFVAEYEPVLIEILVEVMDPSFVCLKIGACPSAHKPLLGTEKCIWGPS
YWCQNTETAAQCNAVEHCKRHVWN*
a.a.
length
InterPro Name
length(25), motif(18:42) 25IPR008373Saposin [Family]
length(41), motif(18:58) 41IPR003119Saposin type A [Domain]
length(34), motif(21:54) 34IPR003119Saposin type A [Domain]
length(21), motif(47:67) 21IPR008373Saposin [Family]
length(81), motif(59:139) 81IPR011001Saposin-like [Domain]
length(84), motif(59:142) 84IPR008139Saposin B [Domain]
length(82), motif(60:141) 82IPR011001Saposin-like [Domain]
length(38), motif(61:98) 38IPR007856Saposin-like type B, 1 [Domain]
length(78), motif(61:138) 78IPR008139Saposin B [Domain]
length(18), motif(77:94) 18IPR008373Saposin [Family]
length(34), motif(105:138) 34IPR008138Saposin-like type B, 2 [Domain]
length(19), motif(128:146) 19IPR008373Saposin [Family]
length(26), motif(156:181) 26IPR008373Saposin [Family]
length(79), motif(194:272) 79IPR011001Saposin-like [Domain]
length(82), motif(194:275) 82IPR008139Saposin B [Domain]
length(40), motif(195:234) 40IPR007856Saposin-like type B, 1 [Domain]
length(76), motif(196:271) 76IPR008139Saposin B [Domain]
length(22), motif(197:218) 22IPR008373Saposin [Family]
length(22), motif(233:254) 22IPR008373Saposin [Family]
length(114), motif(237:350) 114IPR011001Saposin-like [Domain]
length(34), motif(238:271) 34IPR008138Saposin-like type B, 2 [Domain]
length(80), motif(310:389) 80IPR011001Saposin-like [Domain]
length(82), motif(311:392) 82IPR008139Saposin B [Domain]
length(38), motif(313:350) 38IPR007856Saposin-like type B, 1 [Domain]
length(76), motif(313:388) 76IPR008139Saposin B [Domain]
length(21), motif(315:335) 21IPR008373Saposin [Family]
length(92), motif(353:444) 92IPR011001Saposin-like [Domain]
length(35), motif(354:388) 35IPR008138Saposin-like type B, 2 [Domain]
length(19), motif(364:382) 19IPR008373Saposin [Family]
length(80), motif(405:484) 80IPR011001Saposin-like [Domain]
length(82), motif(405:486) 82IPR008139Saposin B [Domain]
length(23), motif(406:428) 23IPR008373Saposin [Family]
length(38), motif(407:444) 38IPR007856Saposin-like type B, 1 [Domain]
length(76), motif(407:482) 76IPR008139Saposin B [Domain]
length(23), motif(438:460) 23IPR008373Saposin [Family]
length(78), motif(446:523) 78IPR011001Saposin-like [Domain]
length(34), motif(449:482) 34IPR008138Saposin-like type B, 2 [Domain]
length(24), motif(460:483) 24IPR008373Saposin [Family]
length(37), motif(488:524) 37IPR003119Saposin type A [Domain]
length(22), motif(489:510) 22IPR008373Saposin [Family]
length(34), motif(491:524) 34IPR003119Saposin type A [Domain]

Protein function information
H-Inv protein ID HIP000115885
Representative H-Inv transcript ID Transcript view HIT000191128
H-Inv cluster ID Locus view HIX0008908
Definition Proactivator polypeptide; Contains: Saposin-A; Protein A; Contains: Saposin-B-Val; Contains: Saposin-B; Cerebroside sulfate activator; CSAct; Dispersin; Sphingolipid activator protein 1; SAP-1; Sulfatide/GM1 activator; Contains: Saposin-C; A1 activator; Co-beta-glucosidase; Glucosylceramidase activator; Sphingolipid activator protein 2; SAP-2; Contains: Saposin-D; Component C; Protein C; Precursor;
Similarity category Help Identical to known human protein(Category I).
Identical to known human protein (P07602) [Identity/coverage = 100.0%/100.0%] to Homo sapiens (Human). protein.
Gene family/group H-Inv gene family/group ID NA
Gene family/group name NA
Evidence motif (InterPro) ID NA
EC number NA
KEGG metabolic pathway NA
Protein-protein interaction (PPI) PPI viewer No. of interaction 42
Interaction partner(s) HIP000021398; HIP000021398; HIP000021818; HIP000022671; HIP000023822; HIP000025218; HIP000027358; HIP000027358; HIP000027633; HIP000027819; HIP000027819; HIP000028809; HIP000036277; HIP000036277; HIP000043309; HIP000044974; HIP000045907; HIP000045907; HIP000046272; HIP000054389; HIP000060961; HIP000071861; HIP000076344; HIP000090978; HIP000090978; HIP000092457; HIP000094247; HIP000096658; HIP000100064; HIP000100064; HIP000100089; HIP000100824; HIP000105862; HIP000107528; HIP000112312; HIP000112312; HIP000128077; HIP000130959; HIP000137500; HIP000337035; HIP000347257; HIP000357639;
BIND 149938; 150543; 262675;
DIP 103975E; 112158E;
MINT MINT-2866200; MINT-60928; MINT-62098; MINT-63423; MINT-65660; MINT-65765; MINT-6797475; MINT-6797576; MINT-6797604; MINT-6797801;
HPRD 00291; 01775; 02170; 02971; 03013; 03883; 04484; 05160; 05343; 06973; 07255; 16735;
IntAct NA
Database links RefSeq NA
UniProt P07602 ;
CCDS P07602;
Gene symbol/name HGNC symbol PSAP
HGNC aliases "sphingolipid activator protein-1";
HGNC name prosaposin;
Related H-InvDB links G-integraG-integra ; PPI viewer PPI view ; TACT TACT ;

Glycosylation
GPDB (GlycoProtDB)
GPDB
ID NA
Protein name NA
Organism NA
Length(aa) NA

Subcellular localization information
WoLF PSORT plasma membrane;
Target P signal peptide
SOSUI membrane protein
TMHMM soluble protein
PTS1 Not targeted
Related H-InvDB links LIFEdb LIFEdb; 
JRE-1.4.0 or later is required. Download JRE at Sun's web site.

Protein structure information (GTOP) GTOP Last modified : 27-May-2015
Start End PDB_ID E-value Identity Coverage SCOP_ID
63 138 2gtgA1 4e-12 42.1 74/78 a.64.1.1
195 272 1n69A 2e-14 100.0 78/78 a.64.1.3
312 389 2gtgA1 1e-14 79.5 78/78 a.64.1.1
406 483 1nklA 9e-14 19.5 77/78 a.64.1.1
Related H-InvDB links GTOP GTOP

Evolutionary information
Relationship Species Accession number MGI Links
Orthology Danio sp. (Zebrafish) AF108655 G-integraG-integra
Orthology Gallus sp. (Chicken) AF108656 G-integraG-integra
Orthology Mus sp. (Mouse) AK167902 MGI:3566735 G-integraG-integra
Orthology Rattus sp. (Rat) BC061759 G-integraG-integra
Orthology Bos sp. (Cow) BT029842 G-integraG-integra
Orthology Pongo sp. (Orangutan) CR926102 G-integraG-integra
Orthology Canis sp. (Dog) ENSCAFT00000022878 G-integraG-integra
Orthology Macaca sp. (Macaque) ENSMMUT00000042830 G-integraG-integra
Orthology Oryzias sp. (Medaka) ENSORLT00000014347 G-integraG-integra
Orthology Pan sp. (Chimpanzee) ENSPTRT00000042363 G-integraG-integra
Orthology Tetraodon sp. (Tetraodon) GSTENT00030786001 G-integraG-integra
Orthology Takifugu sp. (Fugu) SINFRUT00000178536 G-integraG-integra
Orthology Monodelphis sp. (Opossum) XM_001365272 G-integraG-integra
Orthology Equus sp. (Horse) XM_001503764 G-integraG-integra
Phylogenetic tree [View by ATV] TNeighbor-joining (phb) 
Related H-InvDB links EvolaEvola dN/dS

Translation polymorphism (SNP) and microsatellite (STR) information

Single Nucleotide Polymorphism (SNP) and indel VaryGene
Location Variation dbSNP ID Strand CDS/UTR Translation
39..39 A/T rs121918106 + CDS Nonsynonymous[Met1Leu]
54..54 C/T rs148279196 - CDS Nonsynonymous[Leu6Phe]
74..74 C/G rs11555014 + CDS Synonymous[Gly12Gly]
86..86 C/T rs199808371 - CDS Synonymous[Ala16Ala]
98..98 T/C rs188252882 - CDS Synonymous[Leu20Leu]
105..105 A/G rs143016278 - CDS Nonsynonymous[Lys23Glu]
109^110 -/A rs34228343 - CDS
116..116 C/T rs74145688 - CDS Synonymous[Thr26Thr]
121..121 G/T rs185057837 - CDS Nonsynonymous[Gly28Val]
126..126 G/T rs144942998 - CDS Nonsynonymous[Ala30Ser]
132..132 T/G rs200008050 - CDS Nonsynonymous[Trp32Gly]
151..151 C/T rs145181011 - CDS Nonsynonymous[Thr38Met]
155..155 G/A rs200836594 - CDS Synonymous[Ala39Ala]
158..158 C/T rs141231601 - CDS Synonymous[Ser40Ser]
185..185 G/A rs112119208 - CDS Synonymous[Leu49Leu]
191..191 C/T rs11555016 + CDS Synonymous[Thr51Thr]
192..192 G/A rs147920923 - CDS Nonsynonymous[Val52Ile]
227..227 C/T rs111369573 - CDS Synonymous[Cys63Cys]
242..242 C/T rs143981174 - CDS Synonymous[Asp68Asp]
252..252 G/A rs150701404 - CDS Nonsynonymous[Ala72Thr]
255..255 G/A rs11555015 + CDS Nonsynonymous[Ala73Thr]
383..383 T/G rs11555017 + CDS Synonymous[Pro115Pro]
396..396 A/G rs142784765 - CDS Nonsynonymous[Ile120Val]
417..417 C/T rs148519599 - CDS Nonsynonymous[Arg127Cys]
526..526 A/T rs146301708 - CDS Nonsynonymous[Asp163Val]
578..578 C/T rs11555021 + CDS Synonymous[Tyr180Tyr]
587..587 C/T rs142002239 - CDS Synonymous[Asp183Asp]
594..594 C/T rs193088462 - CDS Nonsynonymous[Arg186Cys]
595..595 G/A rs138880818 - CDS Nonsynonymous[Arg186His]
603..603 C/T rs188854022 - CDS Nonsynonymous[Pro189Ser]
608..608 G/T rs142272618 - CDS Nonsynonymous[Gln190His]
615..615 G/C rs149305591 - CDS Nonsynonymous[Asp193His]
616..616 A/G rs138636858 - CDS Nonsynonymous[Asp193Gly]
620..620 T/C rs150177878 - CDS Synonymous[Asn194Asn]
627..627 G/A rs191952316 - CDS Nonsynonymous[Val197Ile]
654..654 A/G rs139503658 - CDS Nonsynonymous[Thr206Ala]
659..659 C/T rs140702696 - CDS Synonymous[Asp207Asp]
661..661 T/G rs200319381 - CDS Nonsynonymous[Ile208Ser]
675..675 C/T rs150521779 - CDS Nonsynonymous[Arg213Trp]
681..681 A/C rs121918107 + CDS Nonsynonymous[Asn215His]
688..688 C/T rs121918103 + CDS Nonsynonymous[Thr217Ile]
733..733 G/T rs147265566 - CDS Nonsynonymous[Arg232Leu]
735..735 C/T/G rs146934980 - CDS
752..752 C/G rs141199649 - CDS Synonymous[Ala238Ala]
760..760 G/C rs121918104 + CDS Nonsynonymous[Cys241Ser]
761..761 C/T rs147805036 - CDS Synonymous[Cys241Cys]
770..770 T/C rs146732171 - CDS Synonymous[Tyr244Tyr]
779..779 G/T rs202069470 - CDS Nonsynonymous[Gln247His]
836..836 G/A rs199672678 - CDS Synonymous[Ala266Ala]
860..860 G/A rs149202005 - CDS Synonymous[Val274Val]
903..903 T/C rs145404688 - CDS Nonsynonymous[Ser289Pro]
932..932 G/A rs150048951 - CDS Synonymous[Leu298Leu]
952..952 A/G rs113554687 - CDS Nonsynonymous[His305Arg]
978..978 T/C rs202041927 - CDS Nonsynonymous[Tyr314His]
1004..1004 G/A rs139413990 - CDS Synonymous[Val322Val]
1055..1055 C/T rs146778046 - CDS Synonymous[Leu339Leu]
1058..1058 C/T rs113679008 - CDS Synonymous[Asp340Asp]
1067..1067 C/A rs199650747 - CDS Nonsynonymous[Asp343Glu]
1084..1084 T/C rs121918110 + CDS Nonsynonymous[Leu349Pro]
1087..1087 C/T rs201129306 - CDS Nonsynonymous[Pro350Leu]
1094..1094 C/T rs138328594 - CDS Synonymous[Ser352Ser]
1126..1126 C/T rs140066253 - CDS Nonsynonymous[Thr363Met]
1130..1130 C/T rs200226479 - CDS Synonymous[Tyr364Tyr]
1160..1160 G/A rs146102517 - CDS Synonymous[Glu374Glu]
1182..1182 T/G rs121918108 + CDS Nonsynonymous[Cys382Gly]
1183..1183 G/T rs121918105 + CDS Nonsynonymous[Cys382Phe]
1202..1202 C/T rs141254386 - CDS Synonymous[Cys388Cys]
1210..1210 C/T rs202125074 - CDS Nonsynonymous[Thr391Met]
1265..1265 C/T rs147030327 - CDS Synonymous[Cys409Cys]
1280..1280 G/T rs1803650 + CDS Nonsynonymous[Lys414Asn]
1317..1317 A/G rs148676984 - CDS Nonsynonymous[Ser427Gly]
1320..1320 A/G rs200379457 - CDS Nonsynonymous[Thr428Ala]
1326..1326 C/T rs121918109 + CDS AA-STOP[Gln430*]
1334..1334 C/T rs144042454 - CDS Synonymous[Ile432Ile]
1349..1349 G/A rs149525964 - CDS Synonymous[Glu437Glu]
1376..1376 T/C rs138217875 - CDS Synonymous[Pro446Pro]
1412..1412 C/T rs146925179 - CDS Synonymous[Tyr458Tyr]
1418..1418 C/T rs1049882 + CDS Synonymous[Pro460Pro]
1419..1419 G/A rs138716613 - CDS Nonsynonymous[Val461Met]
1490..1490 G/A rs114389264 - CDS Synonymous[Ser484Ser]
1499..1499 G/A rs140777530 - CDS Synonymous[Lys487Lys]
1514..1514 T/C rs139178900 - CDS Synonymous[Thr492Thr]
1533..1533 C/T rs143773764 - CDS Nonsynonymous[Pro499Ser]
1557..1557 G/C rs149000433 - CDS Nonsynonymous[Glu507Gln]
Microsatellite (Short Tandem Repeat, STR)
LocationVariationStrand
No data available
Related H-InvDB links
VaryGeneVaryGene ;