Product Details

SNP ID
rs3087376
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:89316721 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTGCACCACCCCGATGAAGCTCCA[C/T]GGGAGCAAATACAGAGCCTCCAGGC
Phenotype
MIM: 611360 MIM: 174763
Polymorphism
C/T, 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 4032 UTR 3 NP_001106849.1
NM_018193.2 4032 UTR 3 NP_060663.2
XM_011521756.2 4032 UTR 3 XP_011520058.1
XM_011521757.2 4032 UTR 3 XP_011520059.1
XM_011521764.2 4032 UTR 3 XP_011520066.1
XM_011521767.2 4032 UTR 3 XP_011520069.1
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 4032 UTR 3 NP_001119603.1
NM_002693.2 4032 UTR 3 NP_002684.1

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