Product Details

SNP ID

rs1619925

Assay Type

Functionally Tested

NCBI dbSNP Submissions

18

Location

Chr.1:1517171 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGGCCTGATCCTGGGTGCAGATGC[G/A]GCTGGAAGCCCTGAGCCTGCTGCAC

Phenotype

MIM: 612316 MIM: 612317

Polymorphism

G/A, Transition Substitution

Allele Nomenclature

Literature Links

ATAD3A PubMed Links

Additional Information

For this assay, SNP(s) [rs1619896] 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	413	Intron			NP_001164006.1
NM_001170536.1	413	Intron			NP_001164007.1
NM_018188.3	413	Missense Mutation	CAG,CGG	Q96R	NP_060658.3
XM_017001628.1	413	Intron			XP_016857117.1

Gene

ATAD3B

Gene Name

ATPase family, AAA domain containing 3B

There are no transcripts associated with this gene.

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