Product Details

SNP ID

rs2292507

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.12:52544580 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

GTGCACTCAGGCTGGAACCCTTCCC[C/T]AGGGTGTCTTTGTAATCGTTGGCAC

Phenotype

MIM: 608245

Polymorphism

C/T, 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	1594	Silent Mutation	CTA,CTG	L508L	NP_258259.1
XM_017018749.1	1594	Silent Mutation	CTA,CTG	L426L	XP_016874238.1

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