Product Details

SNP ID
rs201250906
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:40768952 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAAAATATTTTTACATCAAGAAGCT[C/G]TTCATACTCCAGCTTCTGGCCTTCT
Phenotype
MIM: 616675 MIM: 616676
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
KRT26 PubMed Links

Gene Details

Gene
KRT26
Gene Name
keratin 26
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_181539.4 1160 Missense Mutation CAG,GAG Q372E NP_853517.2
Gene
KRT27
Gene Name
keratin 27
There are no transcripts associated with this gene.

View Full Product Details