Product Details

SNP ID

rs150233572

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:69372212 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACAATCTTTTGATGAGGACGAAATG[A/C]ATCAGGTAGCTATGACTAAAATTTT

Phenotype

MIM: 603139 MIM: 600822

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

AK6 PubMed Links

Gene Details

Gene

AK6

Gene Name

adenylate kinase 6

There are no transcripts associated with this gene.

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	301	Missense Mutation	AAT,CAT	N2H	NP_001265551.1
NM_002873.1	301	Missense Mutation	AAT,CAT	N2H	NP_002864.1
NM_133338.2	301	Missense Mutation	AAT,CAT	N2H	NP_579916.1
NM_133339.2	301	Intron			NP_579917.1
NM_133340.2	301	Intron			NP_579918.1
NM_133341.2	301	Missense Mutation	AAT,CAT	N2H	NP_579919.1
NM_133342.2	301	Missense Mutation	AAT,CAT	N2H	NP_579920.1
NM_133343.1	301	Missense Mutation	AAT,CAT	N2H	NP_579921.1
NM_133344.2	301	Missense Mutation	AAT,CAT	N2H	NP_579922.1
XM_017009679.1	301	Missense Mutation	AAT,CAT	N2H	XP_016865168.1
XM_017009680.1	301	Missense Mutation	AAT,CAT	N2H	XP_016865169.1
XM_017009681.1	301	Missense Mutation	AAT,CAT	N2H	XP_016865170.1

Gene

TAF9

Gene Name

TATA-box binding protein associated factor 9

There are no transcripts associated with this gene.

View Full Product Details