Product Details

SNP ID
rs200066086
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:40925450 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGCACTTGGTATTCATTGTTCTGC[C/T]GCTCCAGTTCATGGCGTAGCTGCGT
Phenotype
MIM: 606194
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
KRT23 PubMed Links

Gene Details

Gene
KRT23
Gene Name
keratin 23
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001282433.1 747 Missense Mutation NP_001269362.1
NM_015515.4 747 Missense Mutation NP_056330.3
XM_005257200.4 747 Missense Mutation XP_005257257.1
XM_011524595.1 747 Missense Mutation XP_011522897.1

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