Product Details

SNP ID

rs114422156

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:41567694 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCTCCCCTGGATCCTCTTCCATAA[C/G]TGCCTCCACTTCCTCCTCGACCTCC

Phenotype

MIM: 607606

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

KRT9 PubMed Links

Gene Details

Gene

KRT9

Gene Name

keratin 9

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000226.3	1517	Missense Mutation	ACT,AGT	T484S	NP_000217.2

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