Product Details

SNP ID

rs17843023

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:40960351 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CATTCCAGCCGGGACTTGACGTCCA[G/T]CAGGATCTCGTATTCTTGGTTCTGT

Phenotype

MIM: 616678

Polymorphism

G/T, Transversion 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	1183	Missense Mutation	ATG,CTG	M383L	NP_998821.3

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