Product Details

SNP ID
rs144723412
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:30922240 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTTGTTATTGTTGCAATAGGAAGC[C/T]GTCAGAGAACTTGAAAGCCTTTTGT
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 2132 Intron NP_001139566.1
NM_001146095.1 2132 Intron NP_001139567.1
NM_001146096.1 2132 Intron NP_001139568.1
NM_014967.4 2132 Silent Mutation GCC,GCT A686A NP_055782.3
XM_005254232.4 2132 Silent Mutation GCC,GCT A686A XP_005254289.1
XM_005254234.4 2132 Silent Mutation GCC,GCT A686A XP_005254291.1
XM_005254235.3 2132 Silent Mutation GCC,GCT A686A XP_005254292.1
XM_011521370.2 2132 Silent Mutation GCC,GCT A292A XP_011519672.1
XM_011521371.1 2132 Silent Mutation GCC,GCT A291A XP_011519673.1
XM_011521372.2 2132 Intron XP_011519674.1
XM_017022012.1 2132 Silent Mutation GCC,GCT A129A XP_016877501.1
XM_017022013.1 2132 Silent Mutation GCC,GCT A129A 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 2132 Intron NP_060232.2
XM_005254508.2 2132 Intron XP_005254565.1
XM_011521737.2 2132 Intron XP_011520039.1
XM_011521738.2 2132 Intron XP_011520040.1
XM_017022384.1 2132 Intron XP_016877873.1

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