Product Details

SNP ID

rs199669830

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:15424777 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCCCCGGGTGCCAGCCCCAGGGAC[A/G]GCCGCTTGTCACTGTCACGGCCATG

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	3158	Missense Mutation	CCG,CTG	P622L	NP_067064.2
XM_005260004.4	3158	Missense Mutation	CCG,CTG	P1717L	XP_005260061.1
XM_005260005.4	3158	Missense Mutation	CCG,CTG	P1660L	XP_005260062.1
XM_005260006.4	3158	Missense Mutation	CCG,CTG	P1584L	XP_005260063.1
XM_005260007.4	3158	Missense Mutation	CCG,CTG	P1527L	XP_005260064.1
XM_005260008.2	3158	Missense Mutation	CCG,CTG	P980L	XP_005260065.1
XM_005260009.2	3158	Missense Mutation	CCG,CTG	P796L	XP_005260066.1
XM_005260010.3	3158	Missense Mutation	CCG,CTG	P796L	XP_005260067.1
XM_005260011.2	3158	Missense Mutation	CCG,CTG	P790L	XP_005260068.1
XM_005260012.2	3158	Missense Mutation	CCG,CTG	P663L	XP_005260069.1
XM_006722828.3	3158	Missense Mutation	CCG,CTG	P943L	XP_006722891.1
XM_011528163.2	3158	Missense Mutation	CCG,CTG	P796L	XP_011526465.1

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