Product Details

SNP ID

rs201262822

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:52839141 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTAGGTGATGGATGTCTTCAGACTC[A/G]ACTCAACTGTCTTCTTCAGGATGGT

Phenotype

MIM: 611159 MIM: 611160

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

KRT78 PubMed Links

Gene Details

Gene

KRT78

Gene Name

keratin 78

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001300814.1	1217	Missense Mutation	TCG,TTG	S402L	NP_001287743.1
NM_173352.3	1217	Missense Mutation	TCG,TTG	S512L	NP_775487.2
XM_011538010.1	1217	Missense Mutation	TCG,TTG	S480L	XP_011536312.1

Gene

KRT79

Gene Name

keratin 79

There are no transcripts associated with this gene.

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