Product Details

SNP ID
rs142238966
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:10081367 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTAGTGTTTAGCTGCTGAGAATCAC[A/G]GTGTAGTTGATGGACCAGGAGTGAA
Phenotype
MIM: 613984
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
FANCD2 PubMed Links

Gene Details

Gene
FANCD2
Gene Name
Fanconi anemia complementation group D2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001018115.2 3319 Missense Mutation AGT,GGT S1043G NP_001018125.1
NM_001319984.1 3319 Missense Mutation AGT,GGT S1043G NP_001306913.1
NM_033084.4 3319 Missense Mutation AGT,GGT S1043G NP_149075.2
Gene
FANCD2OS
Gene Name
FANCD2 opposite strand
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001164839.1 3319 Intron NP_001158311.1
NM_173472.1 3319 UTR 3 NP_775743.1
XM_011533330.2 3319 Intron XP_011531632.1
XM_011533331.2 3319 Intron XP_011531633.1

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