Product Details

SNP ID

rs34691009

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:10032865 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGCAACCACTTTCCAAAAAGACAA[A/G]GAAATCTCATATTGCTAATGAAGTT

Phenotype

MIM: 613984

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CIDECP PubMed Links

Gene Details

Gene

CIDECP

Gene Name

cell death-inducing DFFA-like effector c pseudogene

There are no transcripts associated with this gene.

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	290	Missense Mutation	AAG,AGG	K33R	NP_001018125.1
NM_001319984.1	290	Missense Mutation	AAG,AGG	K33R	NP_001306913.1
NM_033084.4	290	Missense Mutation	AAG,AGG	K33R	NP_149075.2

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