Product Details

SNP ID

rs200119901

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:52808405 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTCACCATGTTGGTCAACCGAGAT[C/G]TGGAGCTGCTGGACCTAAGACTCAA

Phenotype

MIM: 123940

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

KRT4 PubMed Links

Gene Details

Gene

KRT4

Gene Name

keratin 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002272.3	1072	Missense Mutation	CAC,CAG	H338Q	NP_002263.3

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