Product Details

SNP ID

rs186328239

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:40958842 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGGGAAGGCTCACATTTGGTGGCA[C/T]GTGGGTAACAGGGACGCCTAAGGAA

Phenotype

MIM: 616678

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

KRT39 PubMed Links

Gene Details

Gene

KRT39

Gene Name

keratin 39

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_213656.3	1271	Missense Mutation	CAT,CGT	H412R	NP_998821.3

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