Product Details

SNP ID
rs199537330
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:30905092 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTGCAAAAATCAAGATGAGCTGAG[A/T]AATCGTAGTGTGAAAGTCATTTGTT
Phenotype
MIM: 613534
Polymorphism
A/T, 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_001146094.1 724 Missense Mutation AGA,AGT R143S NP_001139566.1
NM_001146095.1 724 Missense Mutation AGA,AGT R143S NP_001139567.1
NM_001146096.1 724 Missense Mutation AGA,AGT R143S NP_001139568.1
NM_014967.4 724 Missense Mutation AGA,AGT R143S NP_055782.3
XM_005254232.4 724 Missense Mutation AGA,AGT R143S XP_005254289.1
XM_005254234.4 724 Missense Mutation AGA,AGT R143S XP_005254291.1
XM_005254235.3 724 Missense Mutation AGA,AGT R143S XP_005254292.1
XM_011521370.2 724 Intron XP_011519672.1
XM_011521371.1 724 UTR 5 XP_011519673.1
XM_011521372.2 724 Missense Mutation AGA,AGT R143S XP_011519674.1
XM_017022012.1 724 UTR 5 XP_016877501.1
XM_017022013.1 724 UTR 5 XP_016877502.1

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