Product Details

SNP ID
rs199574217
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.15:30904749 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGAATAAGAAAAAAGCATCTAATT[C/T]TATTATTTCGTGTTTTAACAATGCA
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_001146094.1 381 Missense Mutation TCT,TTT S29F NP_001139566.1
NM_001146095.1 381 Missense Mutation TCT,TTT S29F NP_001139567.1
NM_001146096.1 381 Missense Mutation TCT,TTT S29F NP_001139568.1
NM_014967.4 381 Missense Mutation TCT,TTT S29F NP_055782.3
XM_005254232.4 381 Missense Mutation TCT,TTT S29F XP_005254289.1
XM_005254234.4 381 Missense Mutation TCT,TTT S29F XP_005254291.1
XM_005254235.3 381 Missense Mutation TCT,TTT S29F XP_005254292.1
XM_011521370.2 381 Intron XP_011519672.1
XM_011521371.1 381 UTR 5 XP_011519673.1
XM_011521372.2 381 Missense Mutation TCT,TTT S29F XP_011519674.1
XM_017022012.1 381 UTR 5 XP_016877501.1
XM_017022013.1 381 UTR 5 XP_016877502.1

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