Product Details

SNP ID: rs4252233
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.5:69365721 on Build GRCh38
Set Membership: HapMap
Context Sequence [VIC/FAM]: TTTCGGCATGCTCTTGGGAGAAGCC[A/G]TCTTGCCAGACTCCATGATATCCGA
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	484	Intron			NP_001015891.1
NM_016283.4	484	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	484	Missense Mutation	ACG,ATG	T6M	NP_001015892.1
NM_003187.4	484	Intron			NP_003178.1

View Full Product Details