Product Details

SNP ID
rs13312739
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:89178086 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCACCGTGGAGCGGGGACAGGAGT[A/C]CCTGTGGCCAGCTTTCAGGCAGAGG
Phenotype
MIM: 606933
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
TYR PubMed Links

Gene Details

Gene
TYR
Gene Name
tyrosinase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000372.4 522 Missense Mutation ACC,CCC T45P NP_000363.1
XM_011542970.2 522 Missense Mutation ACC,CCC T45P XP_011541272.1

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