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SNP ID: rs3176238
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.15:89317196 on Build GRCh38
Set Membership: HapMap
Context Sequence [VIC/FAM]: ATTTGAAGCTCTGCTGCCTTCATTT[C/T]TGAAACATCATATCACATTCACTCT
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		Intron			NP_001106849.1
NM_018193.2		Intron			NP_060663.2
XM_011521756.2		Intron			XP_011520058.1
XM_011521757.2		Intron			XP_011520059.1
XM_011521764.2		Intron			XP_011520066.1
XM_011521767.2		Intron			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		Intron			NP_001119603.1
NM_002693.2		Intron			NP_002684.1

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