RGD:126924620 Rat Genome Database

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Variant: RGD:126924620 -  Homo sapiens

RGD ID: 126924620
RS ID: rs149324507
ClinVar ID: CV1045838
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TYRP1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 12,695,694
GRCh38 9 12,695,694
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000550.3:c.565G>C
NG_011705.1:g.7309G>C
NC_000009.12:g.12695694G>C
NC_000009.11:g.12695694G>C
More... 		06/12/2020 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:TYRP1
Accession:NM_000550
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 189
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAPKLLSLGCIFFPLLLFQQARAQFPRQCATVEALRSGMCCPDLSPVSGPGTDRCGSSSGRGRCEAVTADSRPHSPQYP
HDGRDDREVWPLRFFNRTCHCNGNFSGHNCGTCRPGWRGAACDQRVLIVRRNLLDLSKEEKNHFVRALDMAKRTTHPLFV
IATRRSEEILGPDGNTPQFENISIYNYFLWTHYYSVKKTFLGVGQESFGEVDFSHEGPAFLTWHRYHLLRLEKDMQEMLQ
EPSFSLPYWNFATGKNVCDICTDDLMGSRSNFDSTLISPNSVFSQWRVVCDSLEDYDTLGTLCNSTEDGPIRRNPAGNVA
RPMVQRLPEPQDVAQCLEVGLFDTPPFYSNSTNSFRNTVEGYSDPTGKYDPAVRSLHNLAHLFLNGTGGQTHLSPNDPIF
VLLHTFTDAVFDEWLRRYNADISTFPLENAPIGHNRQYNMVPFWPPVTNTEMFVTAPDNLGYTYEIQWPSREFSVPEIIA
IAVVGALLLVALIFGTASYLIRARRSMDEANQPLLTDQYQCYAEEYEKLQNPNQSVV*

Gene Symbol:TYRP1
Accession:XM_047423841
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 189
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAPKLLSLGCIFFPLLLFQQARAQFPRQCATVEALRSGMCCPDLSPVSGPGTDRCGSSSGRGRCEAVTADSRPHSPQYP
HDGRDDREVWPLRFFNRTCHCNGNFSGHNCGTCRPGWRGAACDQRVLIVRRNLLDLSKEEKNHFVRALDMAKRTTHPLFV
IATRRSEEILGPDGNTPQFENISIYNYFLWTHYYSVKKTFLGVGQESFGEVDFSHEGPAFLTWHRYHLLRLEKDMQAPRM
GQLGEIQLEMWPDQWCNVFLNHRMSLSAWKLVYLTRLLFIPTLQTVSETQWKVTVTPRESMTLLFEVFTIWLIYS*
Variant Samples
Additional References at PubMed
PMID:26785811   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001367238 CLINVAR
dbSNP (RS) rs149324507 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene TYRP1 CLINVAR
OMIM 115501 CLINVAR