Product Details

SNP ID

rs201969522

Assay Type

Functionally Tested

NCBI dbSNP Submissions

6

Location

Chr.17:40794013 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCAGCTGCGTACAGTAGTTGCTCT[C/T]GGTCTCTGTCAAGGAGCACTCCAGG

Phenotype

MIM: 616677

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

KRT28 PubMed Links

Gene Details

Gene

KRT28

Gene Name

keratin 28

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_181535.3	1078	Missense Mutation	AAG,GAG	K338E	NP_853513.2

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