Product Details

SNP ID

rs11542280

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:69373915 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTACTGCCACATCATTAGGTGTGA[A/G]TAACTCAAGTCATAGAAGAAAAAAT

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

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	392	Missense Mutation	AAT,AGT	N32S	NP_001265551.1
NM_002873.1	392	Missense Mutation	AAT,AGT	N32S	NP_002864.1
NM_133338.2	392	Missense Mutation	AAT,AGT	N32S	NP_579916.1
NM_133339.2	392	Missense Mutation	AAT,AGT	N43S	NP_579917.1
NM_133340.2	392	UTR 5			NP_579918.1
NM_133341.2	392	Intron			NP_579919.1
NM_133342.2	392	Missense Mutation	AAT,AGT	N32S	NP_579920.1
NM_133343.1	392	Missense Mutation	AAT,AGT	N32S	NP_579921.1
NM_133344.2	392	Missense Mutation	AAT,AGT	N32S	NP_579922.1
XM_017009679.1	392	Missense Mutation	AAT,AGT	N32S	XP_016865168.1
XM_017009680.1	392	Missense Mutation	AAT,AGT	N32S	XP_016865169.1
XM_017009681.1	392	Missense Mutation	AAT,AGT	N32S	XP_016865170.1

Gene

TAF9

Gene Name

TATA-box binding protein associated factor 9

There are no transcripts associated with this gene.

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