Product Details

SNP ID
rs201452729
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:113434002 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCTCCTTGTTGATGGCCACAGAGG[G/T]AGATCCCCGTGCCTTGGGCTGCATC
Phenotype
MIM: 159350 MIM: 610709
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
MCC PubMed Links

Gene Details

Gene
MCC
Gene Name
mutated in colorectal cancers
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001085377.1 1030 Intron NP_001078846.1
NM_002387.2 1030 Intron NP_002378.1
XM_005271991.2 1030 Intron XP_005272048.1
XM_017009473.1 1030 Intron XP_016864962.1
XM_017009474.1 1030 Intron XP_016864963.1
Gene
TSSK1B
Gene Name
testis specific serine kinase 1B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_032028.3 1030 Missense Mutation ACC,CCC T280P NP_114417.1

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