Product Details

SNP ID
rs139353520
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:30904743 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCAGCAAGAATAAGAAAAAAGCAT[C/T]TAATTCTATTATTTCGTGTTTTAAC
Phenotype
MIM: 613534
Polymorphism
C/T, 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_001146094.1 375 Missense Mutation TCT,TTT S27F NP_001139566.1
NM_001146095.1 375 Missense Mutation TCT,TTT S27F NP_001139567.1
NM_001146096.1 375 Missense Mutation TCT,TTT S27F NP_001139568.1
NM_014967.4 375 Missense Mutation TCT,TTT S27F NP_055782.3
XM_005254232.4 375 Missense Mutation TCT,TTT S27F XP_005254289.1
XM_005254234.4 375 Missense Mutation TCT,TTT S27F XP_005254291.1
XM_005254235.3 375 Missense Mutation TCT,TTT S27F XP_005254292.1
XM_011521370.2 375 Intron XP_011519672.1
XM_011521371.1 375 UTR 5 XP_011519673.1
XM_011521372.2 375 Missense Mutation TCT,TTT S27F XP_011519674.1
XM_017022012.1 375 UTR 5 XP_016877501.1
XM_017022013.1 375 UTR 5 XP_016877502.1

View Full Product Details