Product Details

SNP ID

rs34242752

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:10082249 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTCTCCACCGTCTTTTTCCCACAT[C/G]TGATTGCCAAATCCTGTTGATTTTA

Phenotype

MIM: 613984

Polymorphism

C/G, Transversion 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		Intron			NP_001018125.1
NM_001319984.1		Intron			NP_001306913.1
NM_033084.4		Intron			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		Intron			NP_001158311.1
NM_173472.1		Intron			NP_775743.1
XM_011533330.2		Intron			XP_011531632.1
XM_011533331.2		Intron			XP_011531633.1

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