Product Details

SNP ID

rs138279686

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:1518962 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGAATTTACGGAAGCAGGAGGAGTC[C/T]GTGCAGAAGCAGGAAGCCATGCGGC

Phenotype

MIM: 612316 MIM: 612317

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ATAD3A PubMed Links

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	756	Silent Mutation	TCC,TCT	S162S	NP_001164006.1
NM_001170536.1	756	Silent Mutation	TCC,TCT	S83S	NP_001164007.1
NM_018188.3	756	Silent Mutation	TCC,TCT	S210S	NP_060658.3
XM_017001628.1	756	Silent Mutation	TCC,TCT	S162S	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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