Product Details

SNP ID
rs143410718
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:123253706 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCGTGGGTTTATTTCATTTTCCTA[C/T]ACCACTGACCCGAATATGCCCGGCG
Phenotype
MIM: 613541 MIM: 602198 MIM: 605501
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
C12orf65 PubMed Links

Gene Details

Gene
C12orf65
Gene Name
chromosome 12 open reading frame 65
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001143905.2 295 Missense Mutation ACA,ATA T11I NP_001137377.1
NM_001194995.1 295 Missense Mutation ACA,ATA T11I NP_001181924.1
NM_152269.4 295 Missense Mutation ACA,ATA T11I NP_689482.1
XM_005253630.4 295 Missense Mutation ACA,ATA T11I XP_005253687.1
XM_011538980.2 295 Missense Mutation ACA,ATA T11I XP_011537282.1
Gene
CDK2AP1
Gene Name
cyclin dependent kinase 2 associated protein 1
There are no transcripts associated with this gene.

Gene
MPHOSPH9
Gene Name
M-phase phosphoprotein 9
There are no transcripts associated with this gene.

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