Product Details

SNP ID
rs201362244
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:40924498 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTCATGCTCGACTTTGATTCTTCC[C/T]GTGTCCTATAAAAGTGATAAAGGTT
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_001282433.1 849 Missense Mutation NP_001269362.1
NM_015515.4 849 Missense Mutation NP_056330.3
XM_005257200.4 849 Missense Mutation XP_005257257.1
XM_011524595.1 849 Missense Mutation XP_011522897.1

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