Product Details

SNP ID

rs201875307

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:123323029 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAAATTTTCCAACTGAAATATGTTG[C/T]AGTTTTGACTTTTTTTAACAACAGT

Phenotype

MIM: 611941

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ATAD2 PubMed Links

Gene Details

Gene

ATAD2

Gene Name

ATPase family, AAA domain containing 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014109.3	2568	Missense Mutation	TAC,TGC	Y1347C	NP_054828.2
XM_011516994.2	2568	Missense Mutation	TAC,TGC	Y1217C	XP_011515296.1
XM_011516995.2	2568	Intron			XP_011515297.1
XM_011516996.2	2568	Missense Mutation	TAC,TGC	Y806C	XP_011515298.1

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