RGD:11646900 Rat Genome Database

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Variant: RGD:11646900 -  Homo sapiens

RGD ID: 11646900
RS ID: rs145061390
ClinVar ID: CV316811
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LURAP1L-AS1  TYRP1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 12,702,386
GRCh38 9 12,702,386
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.14001C>T
NC_000009.12:g.12702386C>T
NC_000009.11:g.12702386C>T
NP_000541.1:p.Asp343=
More... 		08/28/2018 synonymous variant likely benign|uncertain significance Albinism 3; ALBINISM III; Albinism, oculocutaneous, type III; AllHighlyPenetrant; 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: T to I (nonsynonymous)
Amino Acid Position: 275
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAPKLLSLGCIFFPLLLFQQARAQFPRQCATVEALRSGMCCPDLSPVSGPGTDRCGSSSGRGRCEAVTADSRPHSPQYP
HDGRDDREVWPLRFFNRTCHCNGNFSGHNCGTCRPGWRGAACDQRVLIVRRNLLDLSKEEKNHFVRALDMAKRTTHPLFV
IATRRSEEILGPDGNTPQFENISIYNYFVWTHYYSVKKTFLGVGQESFGEVDFSHEGPAFLTWHRYHLLRLEKDMQAPRM
GQLGEIQLEMWPDQWCNVFLNHRMSLSAWKLVYLIRLLFIPTLQTVSETQWKVTVTPRESMTLLFEVFTIWLIYS*

Gene Symbol:TYRP1
Accession:NM_000550
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 343
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAPKLLSLGCIFFPLLLFQQARAQFPRQCATVEALRSGMCCPDLSPVSGPGTDRCGSSSGRGRCEAVTADSRPHSPQYP
HDGRDDREVWPLRFFNRTCHCNGNFSGHNCGTCRPGWRGAACDQRVLIVRRNLLDLSKEEKNHFVRALDMAKRTTHPLFV
IATRRSEEILGPDGNTPQFENISIYNYFVWTHYYSVKKTFLGVGQESFGEVDFSHEGPAFLTWHRYHLLRLEKDMQEMLQ
EPSFSLPYWNFATGKNVCDICTDDLMGSRSNFDSTLISPNSVFSQWRVVCDSLEDYDTLGTLCNSTEDGPIRRNPAGNVA
RPMVQRLPEPQDVAQCLEVGLFDTPPFYSNSTNSFRNTVEGYSDPTGKYDPAVRSLHNLAHLFLNGTGGQTHLSPNDPIF
VLLHTFTDAVFDEWLRRYNADISTFPLENAPIGHNRQYNMVPFWPPVTNTEMFVTAPDNLGYTYEIQWPSREFSVPEIIA
IAVVGALLLVALIFGTASYLIRARRSMDEANQPLLTDQYQCYAEEYEKLQNPNQSVV*

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 RCV000273508 CLINVAR
  RCV000501167 CLINVAR
  RCV000911348 CLINVAR
dbSNP (RS) rs145061390 CLINVAR
MedGen C0342683 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene LURAP1L-AS1 CLINVAR
  TYRP1 CLINVAR
OMIM 115501 CLINVAR
  203290 CLINVAR
SNOMED CT 63450009 CLINVAR