Product Details

SNP ID

rs199974462

Assay Type

Functionally Tested

NCBI dbSNP Submissions

3

Location

Chr.1:1522803 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTCAGCCAAGAATGCCACGCTTGT[C/T]GCCGGCCGCTTCATCGAGGCTCGGC

Phenotype

MIM: 612316

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

ATAD3A PubMed Links

Additional Information

For this assay, SNP(s) [rs28675990] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

ATAD3A

Gene Name

ATPase family, AAA domain containing 3A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001170535.1	1080	Silent Mutation	GTC,GTT	V270V	NP_001164006.1
NM_001170536.1	1080	Silent Mutation	GTC,GTT	V191V	NP_001164007.1
NM_018188.3	1080	Silent Mutation	GTC,GTT	V318V	NP_060658.3
XM_017001628.1	1080	Silent Mutation	GTC,GTT	V270V	XP_016857117.1

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