Product Details

SNP ID
rs147675860
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:10087244 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATTTTGGAGAAATCAACAGCTTCTG[C/T]TCAGAACAAAGAAAAAATTGGTGAT
Phenotype
MIM: 613984
Polymorphism
C/T, 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 3638 Missense Mutation GCT,GTT A1149V NP_001018125.1
NM_001319984.1 3638 Missense Mutation GCT,GTT A1149V NP_001306913.1
NM_033084.4 3638 Missense Mutation GCT,GTT A1149V 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 3638 Intron NP_001158311.1
NM_173472.1 3638 Intron NP_775743.1
XM_011533330.2 3638 Intron XP_011531632.1
XM_011533331.2 3638 Intron XP_011531633.1

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