Product Details

SNP ID
rs138735842
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:52235201 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AACAAGCTGCTGGAGACCAAGTGGA[C/T]GCTGCTGCAGGAGCAGAAGTCGGCC
Phenotype
MIM: 148059
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
KRT7 PubMed Links

Gene Details

Gene
KRT7
Gene Name
keratin 7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005556.3 451 Missense Mutation ACG,ATG T124M NP_005547.3
XM_011538325.1 451 Missense Mutation ACG,ATG T124M XP_011536627.1
XM_017019294.1 451 UTR 5 XP_016874783.1

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