Product Details

SNP ID
rs147325821
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:40925562 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACTGGGTCTCGGATAACATGTTTT[C/G]CAAAGCAGATTTCTGAAAGAGGAAA
Phenotype
MIM: 606194
Polymorphism
C/G, 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_001282433.1 635 Missense Mutation CAA,GAA Q175E NP_001269362.1
NM_015515.4 635 Missense Mutation CAA,GAA Q312E NP_056330.3
XM_005257200.4 635 Missense Mutation CAA,GAA Q175E XP_005257257.1
XM_011524595.1 635 Missense Mutation CAA,GAA Q175E XP_011522897.1

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