Product Details

SNP ID

rs139622526

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:52171473 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGATTTTGATCACGGGGCCTTTGCT[A/G]CCCTTCTTCTTTCGGGAGGGGGCCT

Phenotype

MIM: 611161

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

KRT80 PubMed Links

Gene Details

Gene

KRT80

Gene Name

keratin 80

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001081492.1	1417	UTR 3			NP_001074961.1
NM_182507.2	1417	Silent Mutation	GGC,GGT	G428G	NP_872313.2
XM_005268676.3	1417	Silent Mutation	GGC,GGT	G463G	XP_005268733.1

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