RGD:15157041 Rat Genome Database

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Variant: RGD:15157041 -  Homo sapiens

RGD ID: 15157041
RS ID: rs146467307
ClinVar ID: CV711762
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LURAP1L-AS1  TYRP1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 12,704,561
GRCh38 9 12,704,561
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011705.1:g.16176G>A
NC_000009.12:g.12704561G>A
NC_000009.11:g.12704561G>A
NM_000550.2:c.1117G>A
More... 		03/29/2018 missense variant benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:TYRP1
Accession:NM_000550
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 373
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAPKLLSLGCIFFPLLLFQQARAQFPRQCATVEALRSGMCCPDLSPVSGPGTDRCGSSSGRGRCEAVTADSRPHSPQYP
HDGRDDREVWPLRFFNRTCHCNGNFSGHNCGTCRPGWRGAACDQRVLIVRRNLLDLSKEEKNHFVRALDMAKRTTHPLFV
IATRRSEEILGPDGNTPQFENISIYNYFVWTHYYSVKKTFLGVGQESFGEVDFSHEGPAFLTWHRYHLLRLEKDMQEMLQ
EPSFSLPYWNFATGKNVCDICTDDLMGSRSNFDSTLISPNSVFSQWRVVCDSLEDYDTLGTLCNSTEDGPIRRNPAGNVA
RPMVQRLPEPQDVAQCLEVGLFDTPPFYSNSTNSFRNTVEGYSDPTGKYDPAIRSLHNLAHLFLNGTGGQTHLSPNDPIF
VLLHTFTDAVFDEWLRRYNADISTFPLENAPIGHNRQYNMVPFWPPVTNTEMFVTAPDNLGYTYEIQWPSREFSVPEIIA
IAVVGALLLVALIFGTASYLIRARRSMDEANQPLLTDQYQCYAEEYEKLQNPNQSVV*

Gene Symbol:TYRP1
Accession:XM_047423841
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 304
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAPKLLSLGCIFFPLLLFQQARAQFPRQCATVEALRSGMCCPDLSPVSGPGTDRCGSSSGRGRCEAVTADSRPHSPQYP
HDGRDDREVWPLRFFNRTCHCNGNFSGHNCGTCRPGWRGAACDQRVLIVRRNLLDLSKEEKNHFVRALDMAKRTTHPLFV
IATRRSEEILGPDGNTPQFENISIYNYFVWTHYYSVKKTFLGVGQESFGEVDFSHEGPAFLTWHRYHLLRLEKDMQAPRM
GQLGEIQLEMWPDQWCNVFLNHRMSLSAWKLVYLTRLLFIPTLQTVSETQWKVTVTPRESMTLLFEVFTIWLIYS*

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

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000969232 CLINVAR
  RCV001819090 CLINVAR
dbSNP (RS) rs146467307 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene LURAP1L-AS1 CLINVAR
  TYRP1 CLINVAR
OMIM 115501 CLINVAR