Product Details

SNP ID
rs146522953
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.15:30904862 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCACCTTGATGAAATGTGTGCTAAC[A/G]ATGACTTCGTTCAAGTGGATCCAGG
Phenotype
MIM: 613534
Polymorphism
A/G, Transition 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_001146094.1 494 Missense Mutation AAT,GAT N67D NP_001139566.1
NM_001146095.1 494 Missense Mutation AAT,GAT N67D NP_001139567.1
NM_001146096.1 494 Missense Mutation AAT,GAT N67D NP_001139568.1
NM_014967.4 494 Missense Mutation AAT,GAT N67D NP_055782.3
XM_005254232.4 494 Missense Mutation AAT,GAT N67D XP_005254289.1
XM_005254234.4 494 Missense Mutation AAT,GAT N67D XP_005254291.1
XM_005254235.3 494 Missense Mutation AAT,GAT N67D XP_005254292.1
XM_011521370.2 494 Intron XP_011519672.1
XM_011521371.1 494 UTR 5 XP_011519673.1
XM_011521372.2 494 Missense Mutation AAT,GAT N67D XP_011519674.1
XM_017022012.1 494 UTR 5 XP_016877501.1
XM_017022013.1 494 UTR 5 XP_016877502.1

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