Product Details

SNP ID
rs201343749
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:40819117 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCGCCGCCGGAGCTTCCGCCGCCG[G/T]AGCCGCCGCCGAAACTTCCGCCGCC
Phenotype
MIM: 148080
Polymorphism
G/T, 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 1454 Missense Mutation TAC,TCC Y473S NP_000412.3
XM_005257343.3 1454 Missense Mutation TAC,TCC Y473S 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 1454 Intron NP_001182315.1
NM_001195387.1 1454 UTR 5 NP_001182316.1
NM_145274.3 1454 Intron NP_660317.2
XM_005257089.4 1454 Intron XP_005257146.1
XM_017024253.1 1454 Intron XP_016879742.1

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