Product Details

SNP ID: rs187039783
Assay Type: Functionally tested
NCBI dbSNP Submissions: 16
Location: Chr.1:1535637 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GCGCGCACGGCGCAGTGCAGGACGC[C/T]GTCCATCCACACCAGGAACCAGCTG
Phenotype: MIM: 612316 MIM: 616101
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	339	Intron			NP_001164006.1
NM_001170536.1	339	Intron			NP_001164007.1
NM_018188.3	339	Intron			NP_060658.3
XM_017001628.1	339	Intron			XP_016857117.1

Gene: SSU72
Gene Name: SSU72 homolog, RNA polymerase II CTD phosphatase

There are no transcripts associated with this gene.

Gene: TMEM240
Gene Name: transmembrane protein 240

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001114748.1	339	Missense Mutation	AGC,GGC	S109G	NP_001108220.1

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