Product Details

SNP ID

rs2244485

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.21:30337373 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TGCTGAAGAACTTTCTGATTGGCAC[A/G]CTGTCCTTTCGCAGGGCCTGGAATT

Phenotype

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

KRTAP27-1 PubMed Links

Gene Details

Gene

KRTAP27-1

Gene Name

keratin associated protein 27-1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001077711.1	322	Missense Mutation	GCG,GTG	A99V	NP_001071179.1

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