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SNP ID: rs3087374
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.15:89316763 on Build GRCh38
Set Membership: HapMap
Context Sequence [VIC/FAM]: CCTCCAGGCAGTGCTATGGTCCAGG[A/C]TGGCTTCGTTTTTCCAAGGAGCCTT
Phenotype: MIM: 611360 MIM: 174763
Polymorphism: A/C, Transversion 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	4401	UTR 3			NP_001106849.1
NM_018193.2	4401	UTR 3			NP_060663.2
XM_011521756.2	4401	UTR 3			XP_011520058.1
XM_011521757.2	4401	UTR 3			XP_011520059.1
XM_011521764.2	4401	UTR 3			XP_011520066.1
XM_011521767.2	4401	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	4401	Missense Mutation	CAG,CAT	Q1236H	NP_001119603.1
NM_002693.2	4401	Missense Mutation	CAG,CAT	Q1236H	NP_002684.1

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