Product Details

SNP ID

rs111476645

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:30922253 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAATAGGAAGCCGTCAGAGAACTT[C/G]AAAGCCTTTTGTCTCAGAGAATTTA

Phenotype

MIM: 613534

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

FAN1 PubMed Links

Gene Details

Gene

FAN1

Gene Name

FANCD2/FANCI-associated nuclease 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001146094.1	2145	Intron			NP_001139566.1
NM_001146095.1	2145	Intron			NP_001139567.1
NM_001146096.1	2145	Intron			NP_001139568.1
NM_014967.4	2145	Missense Mutation	CAA,GAA	Q691E	NP_055782.3
XM_005254232.4	2145	Missense Mutation	CAA,GAA	Q691E	XP_005254289.1
XM_005254234.4	2145	Missense Mutation	CAA,GAA	Q691E	XP_005254291.1
XM_005254235.3	2145	Missense Mutation	CAA,GAA	Q691E	XP_005254292.1
XM_011521370.2	2145	Missense Mutation	CAA,GAA	Q297E	XP_011519672.1
XM_011521371.1	2145	Missense Mutation	CAA,GAA	Q296E	XP_011519673.1
XM_011521372.2	2145	Intron			XP_011519674.1
XM_017022012.1	2145	Missense Mutation	CAA,GAA	Q134E	XP_016877501.1
XM_017022013.1	2145	Missense Mutation	CAA,GAA	Q134E	XP_016877502.1

Gene

MTMR10

Gene Name

myotubularin related protein 10

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_017762.2	2145	Intron			NP_060232.2
XM_005254508.2	2145	Intron			XP_005254565.1
XM_011521737.2	2145	Intron			XP_011520039.1
XM_011521738.2	2145	Intron			XP_011520040.1
XM_017022384.1	2145	Intron			XP_016877873.1

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