RGD:28882480 Rat Genome Database

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Variant: RGD:28882480 -  Homo sapiens

RGD ID: 28882480
RS ID: rs185178312
ClinVar ID: CV901057
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TYRP1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 12,694,134
GRCh38 9 12,694,134
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000550.2:c.138C>T
NG_011705.1:g.5749C>T
NC_000009.11:g.12694134C>T
NC_000009.12:g.12694134C>T
More... 		08/01/2021 synonymous variant benign|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: S to S (synonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAPKLLSLGCIFFPLLLFQQARAQFPRQCATVEALRSGMCCPDLSPVSGPGTDRCGSSSGRGRCEAVTADSRPHSPQYP
HDGRDDREVWPLRFFNRTCHCNGNFSGHNCGTCRPGWRGAACDQRVLIVRRNLLDLSKEEKNHFVRALDMAKRTTHPLFV
IATRRSEEILGPDGNTPQFENISIYNYFVWTHYYSVKKTFLGVGQESFGEVDFSHEGPAFLTWHRYHLLRLEKDMQAPRM
GQLGEIQLEMWPDQWCNVFLNHRMSLSAWKLVYLTRLLFIPTLQTVSETQWKVTVTPRESMTLLFEVFTIWLIYS*

Gene Symbol:TYRP1
Accession:NM_000550
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAPKLLSLGCIFFPLLLFQQARAQFPRQCATVEALRSGMCCPDLSPVSGPGTDRCGSSSGRGRCEAVTADSRPHSPQYP
HDGRDDREVWPLRFFNRTCHCNGNFSGHNCGTCRPGWRGAACDQRVLIVRRNLLDLSKEEKNHFVRALDMAKRTTHPLFV
IATRRSEEILGPDGNTPQFENISIYNYFVWTHYYSVKKTFLGVGQESFGEVDFSHEGPAFLTWHRYHLLRLEKDMQEMLQ
EPSFSLPYWNFATGKNVCDICTDDLMGSRSNFDSTLISPNSVFSQWRVVCDSLEDYDTLGTLCNSTEDGPIRRNPAGNVA
RPMVQRLPEPQDVAQCLEVGLFDTPPFYSNSTNSFRNTVEGYSDPTGKYDPAVRSLHNLAHLFLNGTGGQTHLSPNDPIF
VLLHTFTDAVFDEWLRRYNADISTFPLENAPIGHNRQYNMVPFWPPVTNTEMFVTAPDNLGYTYEIQWPSREFSVPEIIA
IAVVGALLLVALIFGTASYLIRARRSMDEANQPLLTDQYQCYAEEYEKLQNPNQSVV*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001167918 CLINVAR
  RCV001819869 CLINVAR
  RCV002067825 CLINVAR
dbSNP (RS) rs185178312 CLINVAR
MedGen C0342683 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene TYRP1 CLINVAR
OMIM 115501 CLINVAR
  203290 CLINVAR
SNOMED CT 63450009 CLINVAR