Product Details

SNP ID

rs188868101

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:40863744 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTTCAGCGTCCTTCCGATTCTGCT[C/T]AGCGATGGTTTCATACTGCGCCCGC

Phenotype

MIM: 601687

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

KRT12 PubMed Links

Gene Details

Gene

KRT12

Gene Name

keratin 12

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000223.3	952	Missense Mutation	AAG,GAG	K310E	NP_000214.1

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