Product Details

SNP ID

rs199923088

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:52768718 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAGAGATTTGGAACAGTAGATCACT[C/T]GGTGGAGCTATGCTGGCTTGAGCTC

Phenotype

MIM: 616671

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

KRT76 PubMed Links

Gene Details

Gene

KRT76

Gene Name

keratin 76

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015848.4	1966	Missense Mutation	AAG,GAG	K638E	NP_056932.2

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