Product Details

SNP ID
rs146855016
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:40820064 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTTAACATACCAAGGCCAGTTGGGA[C/G]TGTAGTTCTATCTCCAGAGCTTGTA
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 1176 Missense Mutation CAC,CAG H380Q NP_000412.3
XM_005257343.3 1176 Missense Mutation CAC,CAG H380Q 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 1176 Intron NP_001182315.1
NM_001195387.1 1176 Intron NP_001182316.1
NM_145274.3 1176 Intron NP_660317.2
XM_005257089.4 1176 Intron XP_005257146.1
XM_017024253.1 1176 Intron XP_016879742.1

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