Product Details

SNP ID
rs139971850
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:32602354 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACACACTTAATGCCTGGAAACAAAA[A/T]CTGAACAAAGTGAAAAACAGCCTTT
Phenotype
MIM: 612328 MIM: 609641
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
CCDC73 PubMed Links

Gene Details

Gene
CCDC73
Gene Name
coiled-coil domain containing 73
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001008391.3 805 UTR 3 NP_001008392.2
XM_011520139.2 805 UTR 3 XP_011518441.1
Gene
EIF3M
Gene Name
eukaryotic translation initiation factor 3 subunit M
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001307929.1 805 Silent Mutation AAA,AAT K228N NP_001294858.1
NM_006360.5 805 Silent Mutation AAA,AAT K360N NP_006351.2
XM_011519840.2 805 Missense Mutation AAA,AAT K297N XP_011518142.1

View Full Product Details