Product Details

SNP ID

rs148682580

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:40792507 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCAATGGAGTGAATCCTTGATGAAA[G/T]AACTTTACCACGTTGATCTAGCTCT

Phenotype

MIM: 616676 MIM: 616677

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

KRT27 PubMed Links

Gene Details

Gene

KRT27

Gene Name

keratin 27

There are no transcripts associated with this gene.

Gene

KRT28

Gene Name

keratin 28

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_181535.3	1381	Missense Mutation	ATT,CTT	I439L	NP_853513.2

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