Product Details

SNP ID
rs3176241
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:89316926 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
GCTTAATGCTAAGGTCAAAAGGAGA[A/G]TGAAAGGTTGAGAACAATTGCCACG
Phenotype
MIM: 611360 MIM: 174763
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
FANCI PubMed Links

Gene Details

Gene
FANCI
Gene Name
Fanconi anemia complementation group I
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001113378.1 4564 UTR 3 NP_001106849.1
NM_018193.2 4564 UTR 3 NP_060663.2
XM_011521756.2 4564 UTR 3 XP_011520058.1
XM_011521757.2 4564 UTR 3 XP_011520059.1
XM_011521764.2 4564 UTR 3 XP_011520066.1
XM_011521767.2 4564 UTR 3 XP_011520069.1
Gene
MIR6766
Gene Name
microRNA 6766
There are no transcripts associated with this gene.

Gene
POLG
Gene Name
DNA polymerase gamma, catalytic subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001126131.1 4564 Intron NP_001119603.1
NM_002693.2 4564 Intron NP_002684.1

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