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SNP ID: rs4252217
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.5:69369635 on Build GRCh38
Set Membership: HapMap
Context Sequence [VIC/FAM]: GGCGCCCCTAGCCTGCCCCGGCGGC[C/T]CAGCCGCGGCCCACTGGTTACCTGG
Phenotype: MIM: 603139 MIM: 600822
Polymorphism: C/T, 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		Intron			NP_001015891.1
NM_016283.4		Intron			NP_057367.1

Gene: RAD17
Gene Name: RAD17 checkpoint clamp loader component

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001278622.1		Intron			NP_001265551.1
NM_002873.1		Intron			NP_002864.1
NM_133338.2		Intron			NP_579916.1
NM_133339.2		Intron			NP_579917.1
NM_133340.2		Intron			NP_579918.1
NM_133341.2		Intron			NP_579919.1
NM_133342.2		Intron			NP_579920.1
NM_133343.1		Intron			NP_579921.1
NM_133344.2		Intron			NP_579922.1
XM_017009679.1		Intron			XP_016865168.1
XM_017009680.1		Intron			XP_016865169.1
XM_017009681.1		Intron			XP_016865170.1

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		Intron			NP_001015892.1
NM_003187.4		Intron			NP_003178.1

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