RGD:8566307 Rat Genome Database

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Variant: RGD:8566307 -  Homo sapiens

RGD ID: 8566307
RS ID: rs121912778
ClinVar ID: CV32634
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LURAP1L-AS1  TYRP1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 12,704,564
GRCh38 9 12,704,564
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_011705.1:g.16179C>T
NC_000009.12:g.12704564C>T
NC_000009.11:g.12704564C>T
NP_000541.1:p.Arg374Ter
More... 		09/08/2021 intron variant|nonsense|stop-gain pathogenic neonatal/infancy <1 / 1 000 000 Albinism 3; ALBINISM III; ALBINISM, OCULOCUTANEOUS, TYPE III; none provided; Rufous albinism; Rufous OCA; Rufous oculocutaneous albinism; Xanthism
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TYRP1
Accession:XM_047423841
Location:EXON
Amino Acid Prediction: F to F (synonymous)
Amino Acid Position: 305
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAPKLLSLGCIFFPLLLFQQARAQFPRQCATVEALRSGMCCPDLSPVSGPGTDRCGSSSGRGRCEAVTADSRPHSPQYP
HDGRDDREVWPLRFFNRTCHCNGNFSGHNCGTCRPGWRGAACDQRVLIVRRNLLDLSKEEKNHFVRALDMAKRTTHPLFV
IATRRSEEILGPDGNTPQFENISIYNYFVWTHYYSVKKTFLGVGQESFGEVDFSHEGPAFLTWHRYHLLRLEKDMQAPRM
GQLGEIQLEMWPDQWCNVFLNHRMSLSAWKLVYLTRLLFIPTLQTVSETQWKVTVTPRESMTLLFEVFTIWLIYS*

Gene Symbol:TYRP1
Accession:NM_000550
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 374
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAPKLLSLGCIFFPLLLFQQARAQFPRQCATVEALRSGMCCPDLSPVSGPGTDRCGSSSGRGRCEAVTADSRPHSPQYP
HDGRDDREVWPLRFFNRTCHCNGNFSGHNCGTCRPGWRGAACDQRVLIVRRNLLDLSKEEKNHFVRALDMAKRTTHPLFV
IATRRSEEILGPDGNTPQFENISIYNYFVWTHYYSVKKTFLGVGQESFGEVDFSHEGPAFLTWHRYHLLRLEKDMQEMLQ
EPSFSLPYWNFATGKNVCDICTDDLMGSRSNFDSTLISPNSVFSQWRVVCDSLEDYDTLGTLCNSTEDGPIRRNPAGNVA
RPMVQRLPEPQDVAQCLEVGLFDTPPFYSNSTNSFRNTVEGYSDPTGKYDPAV*SLHNLAHLFLNGTGGQTHLSPNDPIF
VLLHTFTDAVFDEWLRRYNADISTFPLENAPIGHNRQYNMVPFWPPVTNTEMFVTAPDNLGYTYEIQWPSREFSVPEIIA
IAVVGALLLVALIFGTASYLIRARRSMDEANQPLLTDQYQCYAEEYEKLQNPNQSVV*

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

Variant Samples
Additional References at PubMed
PMID:8651291   PMID:9345097   PMID:15996218   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000019161 CLINVAR
  RCV001781283 CLINVAR
dbSNP (RS) rs121912778 CLINVAR
MedGen C0342683 CLINVAR
  C3661900 CLINVAR
NCBI Gene LURAP1L-AS1 CLINVAR
  TYRP1 CLINVAR
OMIM 115501 CLINVAR
  203290 CLINVAR
OMIM Allele 115501.0003 CLINVAR
SNOMED CT 63450009 CLINVAR