Product Details

SNP ID
rs1132268
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:40819632 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGCACTCGGTTTCAGCTCGAATCT[C/G]TTGCAACTGTTCTTCCAGAGCGGAT
Phenotype
MIM: 148080
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
KRT10 PubMed Links

Gene Details

Gene
KRT10
Gene Name
keratin 10
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000421.3 1294 Missense Mutation CAG,GAG Q420E NP_000412.3
XM_005257343.3 1294 Missense Mutation CAG,GAG Q420E XP_005257400.1
Gene
TMEM99
Gene Name
transmembrane protein 99
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001195386.1 1294 Intron NP_001182315.1
NM_001195387.1 1294 Intron NP_001182316.1
NM_145274.3 1294 Intron NP_660317.2
XM_005257089.4 1294 Intron XP_005257146.1
XM_017024253.1 1294 Intron XP_016879742.1

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