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SNP ID: rs142083952
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.5:69366568 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TGATTTTGACGCAAGTTCTTTGCCT[A/G]GTGTGGTTTTTCCAACCCCTGGTGT
Phenotype: MIM: 603139 MIM: 600822
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: AK6 PubMed Links

Gene Details

Gene: AK6
Gene Name: adenylate kinase 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001015891.1	385	Missense Mutation	CCA,CTA	P16L	NP_001015891.1
NM_016283.4	385	Intron			NP_057367.1

Gene: RAD17
Gene Name: RAD17 checkpoint clamp loader component

There are no transcripts associated with this gene.

Gene: TAF9
Gene Name: TATA-box binding protein associated factor 9

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001015892.1	385	UTR 5			NP_001015892.1
NM_003187.4	385	Intron			NP_003178.1

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