Product Details

SNP ID

rs199872237

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:15424334 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGTCATTGGTGTCCTCGCCTCCCC[A/G]GGCTGCGGAGGCATCTGGAGGGCGG

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	3367	Missense Mutation	CGG,TGG	R692W	NP_067064.2
XM_005260004.4	3367	Missense Mutation	CGG,TGG	R1787W	XP_005260061.1
XM_005260005.4	3367	Missense Mutation	CGG,TGG	R1730W	XP_005260062.1
XM_005260006.4	3367	Missense Mutation	CGG,TGG	R1654W	XP_005260063.1
XM_005260007.4	3367	Missense Mutation	CGG,TGG	R1597W	XP_005260064.1
XM_005260008.2	3367	Missense Mutation	CGG,TGG	R1050W	XP_005260065.1
XM_005260009.2	3367	Missense Mutation	CGG,TGG	R866W	XP_005260066.1
XM_005260010.3	3367	Missense Mutation	CGG,TGG	R866W	XP_005260067.1
XM_005260011.2	3367	Missense Mutation	CGG,TGG	R860W	XP_005260068.1
XM_005260012.2	3367	Missense Mutation	CGG,TGG	R733W	XP_005260069.1
XM_006722828.3	3367	Missense Mutation	CGG,TGG	R1013W	XP_006722891.1
XM_011528163.2	3367	Missense Mutation	CGG,TGG	R866W	XP_011526465.1

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