Product Details

SNP ID
rs142247095
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:184187740 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGGAGAAGCGCTCAGAGAAGGACA[C/T]GCTCAAGACCAGCAACCCTCTGTGA
Phenotype
MIM: 601024
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ABCF3 PubMed Links

Gene Details

Gene
ABCF3
Gene Name
ATP binding cassette subfamily F member 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_018358.2 562 Missense Mutation ACG,ATG T142M NP_060828.2
XM_011512959.2 562 UTR 5 XP_011511261.1
Gene
AP2M1
Gene Name
adaptor related protein complex 2 mu 1 subunit
There are no transcripts associated with this gene.

View Full Product Details