Product Details

SNP ID

rs199936473

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:15424649 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCCGCTGGTGCTCCTCAGCCTTCA[C/T]GGTGCCTGGCGGGCTGGCTGCCAGA

Phenotype

MIM: 609475

Polymorphism

C/T, 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	3286	Missense Mutation	ATG,GTG	M665V	NP_067064.2
XM_005260004.4	3286	Missense Mutation	ATG,GTG	M1760V	XP_005260061.1
XM_005260005.4	3286	Missense Mutation	ATG,GTG	M1703V	XP_005260062.1
XM_005260006.4	3286	Missense Mutation	ATG,GTG	M1627V	XP_005260063.1
XM_005260007.4	3286	Missense Mutation	ATG,GTG	M1570V	XP_005260064.1
XM_005260008.2	3286	Missense Mutation	ATG,GTG	M1023V	XP_005260065.1
XM_005260009.2	3286	Missense Mutation	ATG,GTG	M839V	XP_005260066.1
XM_005260010.3	3286	Missense Mutation	ATG,GTG	M839V	XP_005260067.1
XM_005260011.2	3286	Missense Mutation	ATG,GTG	M833V	XP_005260068.1
XM_005260012.2	3286	Missense Mutation	ATG,GTG	M706V	XP_005260069.1
XM_006722828.3	3286	Missense Mutation	ATG,GTG	M986V	XP_006722891.1
XM_011528163.2	3286	Missense Mutation	ATG,GTG	M839V	XP_011526465.1

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