Product Details

SNP ID
rs200994533
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:40925357 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCGTGCCAGCCTTTGCCTTACCCT[A/T]CACTCTCTCCCTCCAGGAGCCGTCG
Phenotype
MIM: 606194
Polymorphism
A/T, Transversion 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_001282433.1 840 Missense Mutation GAA,GTA E243V NP_001269362.1
NM_015515.4 840 Missense Mutation GAA,GTA E380V NP_056330.3
XM_005257200.4 840 Missense Mutation GAA,GTA E243V XP_005257257.1
XM_011524595.1 840 Missense Mutation GAA,GTA E243V XP_011522897.1

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