Product Details

SNP ID

rs28940878

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:89178078 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAATGCTGTCCACCGTGGAGCGGGG[A/G]CAGGAGTCCCTGTGGCCAGCTTTCA

Phenotype

MIM: 606933

Polymorphism

A/G, Transition 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	514	Missense Mutation	GAC,GGC	D42G	NP_000363.1
XM_011542970.2	514	Missense Mutation	GAC,GGC	D42G	XP_011541272.1

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