RGD:15162950 Rat Genome Database

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Variant: RGD:15162950 -  Homo sapiens

RGD ID: 15162950
RS ID: rs138106141
ClinVar ID: CV751399
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LURAP1L-AS1  TYRP1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 12,708,013
GRCh38 9 12,708,013
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.1278A>G
NG_011705.1:g.19628A>G
NC_000009.12:g.12708013A>G
NC_000009.11:g.12708013A>G
More... 		07/06/2018 synonymous variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:TYRP1
Accession:NM_000550
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 426
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAPKLLSLGCIFFPLLLFQQARAQFPRQCATVEALRSGMCCPDLSPVSGPGTDRCGSSSGRGRCEAVTADSRPHSPQYP
HDGRDDREVWPLRFFNRTCHCNGNFSGHNCGTCRPGWRGAACDQRVLIVRRNLLDLSKEEKNHFVRALDMAKRTTHPLFV
IATRRSEEILGPDGNTPQFENISIYNYFVWTHYYSVKKTFLGVGQESFGEVDFSHEGPAFLTWHRYHLLRLEKDMQEMLQ
EPSFSLPYWNFATGKNVCDICTDDLMGSRSNFDSTLISPNSVFSQWRVVCDSLEDYDTLGTLCNSTEDGPIRRNPAGNVA
RPMVQRLPEPQDVAQCLEVGLFDTPPFYSNSTNSFRNTVEGYSDPTGKYDPAVRSLHNLAHLFLNGTGGQTHLSPNDPIF
VLLHTFTDAVFDEWLRRYNADISTFPLENAPIGHNRQYNMVPFWPPVTNTEMFVTAPDNLGYTYEIQWPSREFSVPEIIA
IAVVGALLLVALIFGTASYLIRARRSMDEANQPLLTDQYQCYAEEYEKLQNPNQSVV*

Gene Symbol:TYRP1
Accession:XM_047423841
Location:INTRON

Gene Symbol:LURAP1L-AS1
Accession:NR_125775
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000926009 CLINVAR
dbSNP (RS) rs138106141 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene LURAP1L-AS1 CLINVAR
  TYRP1 CLINVAR
OMIM 115501 CLINVAR