Product Details

SNP ID

rs139988725

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.21:30337361 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACAAGCCAGCCCTGCTGAAGAACTT[A/T]CTGATTGGCACGCTGTCCTTTCGCA

Phenotype

Polymorphism

A/T, Transversion 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	334	Missense Mutation	GAA,GTA	E103V	NP_001071179.1

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