Product Details

SNP ID

rs202050803

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:52171461 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGACATTTCGGTGATTTTGATCAC[A/G]GGGCCTTTGCTGCCCTTCTTCTTTC

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	1429	UTR 3			NP_001074961.1
NM_182507.2	1429	Silent Mutation	CCC,CCT	P432P	NP_872313.2
XM_005268676.3	1429	Silent Mutation	CCC,CCT	P467P	XP_005268733.1

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