Product Details

SNP ID
rs187951510
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:136412819 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TATTTATTTTTACTAGTCTACTGCT[C/T]GATTTGACAGCAAAGATGAAATTCT
Phenotype
MIM: 613036
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PMPCA PubMed Links

Gene Details

Gene
PMPCA
Gene Name
peptidase, mitochondrial processing alpha subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001282944.1 375 Intron NP_001269873.1
NM_001282946.1 375 Intron NP_001269875.1
NM_015160.2 375 Intron NP_055975.1
XM_005266059.4 375 Nonsense Mutation CGA,TGA R122* XP_005266116.1
XM_011518417.2 375 Intron XP_011516719.1
XM_017014543.1 375 Intron XP_016870032.1
Gene
SDCCAG3
Gene Name
serologically defined colon cancer antigen 3
There are no transcripts associated with this gene.

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