Product Details

SNP ID
rs79139067
Assay Type
Functionally tested
NCBI dbSNP Submissions
11
Location
Chr.1:40251493 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAACCTAGAAGGGATAATCGTTGCT[A/C]AAAAACCTGCCACGAAGAGGGATTG
Phenotype
MIM: 606480
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
TMCO2 PubMed Links

Gene Details

Gene
TMCO2
Gene Name
transmembrane and coiled-coil domains 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001008740.3 541 Missense Mutation AAA,CAA K150Q NP_001008740.1
Gene
ZMPSTE24
Gene Name
zinc metallopeptidase STE24
There are no transcripts associated with this gene.

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