Product Details

SNP ID

rs139144351

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:123325898 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TATGATTTCAATTTACATACTTTTA[A/T]TCGCTCATGATCCACAACAAGTGAG

Phenotype

MIM: 611941

Polymorphism

A/T, Transversion 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	2525	Missense Mutation	ATA,TTA	I1333L	NP_054828.2
XM_011516994.2	2525	Missense Mutation	ATA,TTA	I1203L	XP_011515296.1
XM_011516995.2	2525	Intron			XP_011515297.1
XM_011516996.2	2525	Missense Mutation	ATA,TTA	I792L	XP_011515298.1

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