Product Details

SNP ID

rs142303164

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:52544563 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTGGTTTTCTTGGAGGGTGCACTC[A/G]GGCTGGAACCCTTCCCTAGGGTGTC

Phenotype

MIM: 608245

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

KRT71 PubMed Links

Gene Details

Gene

KRT71

Gene Name

keratin 71

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_033448.2	1611	Missense Mutation	CCG,CTG	P514L	NP_258259.1
XM_017018749.1	1611	Missense Mutation	CCG,CTG	P432L	XP_016874238.1

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