Product Details

SNP ID

rs200965713

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:15424856 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGCGGCCGCCCTGGATGTAGCTGC[A/G]GTAGGCGCCCACCTTCTGGGGCCGG

Phenotype

MIM: 609475

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

AKAP8L PubMed Links

Gene Details

Gene

AKAP8L

Gene Name

A-kinase anchoring protein 8 like

There are no transcripts associated with this gene.

Gene

WIZ

Gene Name

widely interspaced zinc finger motifs

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_021241.2	3079	Missense Mutation	CGC,TGC	R596C	NP_067064.2
XM_005260004.4	3079	Missense Mutation	CGC,TGC	R1691C	XP_005260061.1
XM_005260005.4	3079	Missense Mutation	CGC,TGC	R1634C	XP_005260062.1
XM_005260006.4	3079	Missense Mutation	CGC,TGC	R1558C	XP_005260063.1
XM_005260007.4	3079	Missense Mutation	CGC,TGC	R1501C	XP_005260064.1
XM_005260008.2	3079	Missense Mutation	CGC,TGC	R954C	XP_005260065.1
XM_005260009.2	3079	Missense Mutation	CGC,TGC	R770C	XP_005260066.1
XM_005260010.3	3079	Missense Mutation	CGC,TGC	R770C	XP_005260067.1
XM_005260011.2	3079	Missense Mutation	CGC,TGC	R764C	XP_005260068.1
XM_005260012.2	3079	Missense Mutation	CGC,TGC	R637C	XP_005260069.1
XM_006722828.3	3079	Missense Mutation	CGC,TGC	R917C	XP_006722891.1
XM_011528163.2	3079	Missense Mutation	CGC,TGC	R770C	XP_011526465.1

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