RGD:9689976 Rat Genome Database

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Variant: RGD:9689976 -  Homo sapiens

RGD ID: 9689976
RS ID: rs727504487
ClinVar ID: CV172940
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PJVK  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 179,325,925
GRCh38 2 178,461,198
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012186.1:g.14763G>A
NC_000002.12:g.178461198G>A
NC_000002.11:g.179325925G>A
NP_001036167.1:p.Cys328Tyr
More... 		04/16/2013 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:PJVK
Accession:NM_001353778
Location:EXON
Amino Acid Prediction: C to Y (nonsynonymous)
Amino Acid Position: 169
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESIRTTRQCSLSVHAGIRGEAMRFHFMDEQNPKGRDKAIVFPAHTTIAFSVFELFIYLDGAFDLCVTSVSKGGFEREET
ATFALLYRLRNILFERNRRVMDVISRSQLYLDDLFSDYYDKPLSMTDISLKEGTHIRVNLLNHNIPKGPCILCGMGNFKR
ETVYGCFQYSVDGQKYVRLHAVPCFDIWHKRMK*

Gene Symbol:PJVK
Accession:XM_017004221
Location:EXON
Amino Acid Prediction: C to Y (nonsynonymous)
Amino Acid Position: 363
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYVYRLLSITVLMDILLEGLHSQYFTIYELRITPMAKHFSTQSFVKQVGDGGRLVPVPSLSEADKYQPLSLVVKKKRCFL
FPRYKFTSTPFTLKDILLGDREISAGISSYQLLNYEDESDVSLYGRRGNHIVNDVGINVAGSDSIAVKASFGIVTKHEVE
VSTLLKEITTRKINFDHSLIRQSRSSRKAVLCVVMESIRTTRQCSLSVHAGIRGEAMRFHFMDEQNPKGRDKAIVFPAHT
TIAFSVFELFIYLDGAFDLCVTSVSKGGFEREETATFALLYRLRNILFERNRRVMDVISRSQLYLDDLFSDYYDKPLSMT
DISLKEGTHIRVNLLNHNIPKGPCILCGMGNFKRETVYGCFQYSVDGQKYVRLHAVPCFDIWHKRMK*

Gene Symbol:PJVK
Accession:NM_001042702
Location:EXON
Amino Acid Prediction: C to Y (nonsynonymous)
Amino Acid Position: 328
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFAAATKSFVKQVGDGGRLVPVPSLSEADKYQPLSLVVKKKRCFLFPRYKFTSTPFTLKDILLGDREISAGISSYQLLNY
EDESDVSLYGRRGNHIVNDVGINVAGSDSIAVKASFGIVTKHEVEVSTLLKEITTRKINFDHSLIRQSRSSRKAVLCVVM
ESIRTTRQCSLSVHAGIRGEAMRFHFMDEQNPKGRDKAIVFPAHTTIAFSVFELFIYLDGAFDLCVTSVSKGGFEREETA
TFALLYRLRNILFERNRRVMDVISRSQLYLDDLFSDYYDKPLSMTDISLKEGTHIRVNLLNHNIPKGPCILCGMGNFKRE
TVYGCFQYSVDGQKYVRLHAVPCFDIWHKRMK*

Gene Symbol:PJVK
Accession:NM_001353775
Location:EXON
Amino Acid Prediction: C to Y (nonsynonymous)
Amino Acid Position: 331
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAFAWDAAPLSFVKQVGDGGRLVPVPSLSEADKYQPLSLVVKKKRCFLFPRYKFTSTPFTLKDILLGDREISAGISSYQL
LNYEDESDVSLYGRRGNHIVNDVGINVAGSDSIAVKASFGIVTKHEVEVSTLLKEITTRKINFDHSLIRQSRSSRKAVLC
VVMESIRTTRQCSLSVHAGIRGEAMRFHFMDEQNPKGRDKAIVFPAHTTIAFSVFELFIYLDGAFDLCVTSVSKGGFERE
ETATFALLYRLRNILFERNRRVMDVISRSQLYLDDLFSDYYDKPLSMTDISLKEGTHIRVNLLNHNIPKGPCILCGMGNF
KRETVYGCFQYSVDGQKYVRLHAVPCFDIWHKRMK*

Gene Symbol:PJVK
Accession:NM_001369912
Location:EXON
Amino Acid Prediction: C to Y (nonsynonymous)
Amino Acid Position: 328
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFAAATKSFVKQVGDGGRLVPVPSLSEADKYQPLSLVVKKKRCFLFPRYKFTSTPFTLKDILLGDREISAGISSYQLLNY
EDESDVSLYGRRGNHIVNDVGINVAGSDSIAVKASFGIVTKHEVEVSTLLKEITTRKINFDHSLIRQSRSSRKAVLCVVM
ESIRTTRQCSLSVHAGIRGEAMRFHFMDEQNPKGRDKAIVFPAHTTIAFSVFELFIYLDGAFDLCVTSVSKGGFEREETA
TFALLYRLRNILFERNRRVMDVISRSQLYLDDLFSDYYDKPLSMTDISLKEGTHIRVNLLNHNIPKGPCILCGMGNFKRE
TVYGCFQYSVDGQKYVRLHAVPCFDIWHKRMK*

Gene Symbol:PJVK
Accession:NM_001353777
Location:EXON
Amino Acid Prediction: C to Y (nonsynonymous)
Amino Acid Position: 169
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESIRTTRQCSLSVHAGIRGEAMRFHFMDEQNPKGRDKAIVFPAHTTIAFSVFELFIYLDGAFDLCVTSVSKGGFEREET
ATFALLYRLRNILFERNRRVMDVISRSQLYLDDLFSDYYDKPLSMTDISLKEGTHIRVNLLNHNIPKGPCILCGMGNFKR
ETVYGCFQYSVDGQKYVRLHAVPCFDIWHKRMK*

Gene Symbol:PJVK
Accession:NM_001353776
Location:EXON
Amino Acid Prediction: C to Y (nonsynonymous)
Amino Acid Position: 330
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYVYRLLSITVLMDILLEGLHSQYFTIYELRITPMAKHFSTQSFVKQVGDGGRLVPVPSLSEADKYQPLSLVVKKKRCFL
FPRYKFTSTPFTLKDILLGDREISAGISSYQLLNYEDESDVSLYGRRGNHIVNDVGINVAGSDSIAVKASFGIVTKHEVE
VSTLLKEITTRKINFDHSLIRQSRSSRKAVLCVVMESIRTTRQCSLSVHAGIRGEAMRFHFMDEQNPKGRDKAIVFPAHT
TIAFSVFELFIYLDGAFDRRVMDVISRSQLYLDDLFSDYYDKPLSMTDISLKEGTHIRVNLLNHNIPKGPCILCGMGNFK
RETVYGCFQYSVDGQKYVRLHAVPCFDIWHKRMK*

Gene Symbol:PJVK
Accession:XR_922929
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:24033266  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000155620 CLINVAR
dbSNP (RS) rs727504487 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene DFNB59 CLINVAR
OMIM 610219 CLINVAR