Product Details

SNP ID

rs142326508

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:15425433 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCGTCAGGCTGAGCTCACGAGGAA[C/T]CTGGGCCGGCCCTGCACCTGGTTTG

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	2710	Missense Mutation	ATT,GTT	I473V	NP_067064.2
XM_005260004.4	2710	Missense Mutation	ATT,GTT	I1568V	XP_005260061.1
XM_005260005.4	2710	Missense Mutation	ATT,GTT	I1511V	XP_005260062.1
XM_005260006.4	2710	Missense Mutation	ATT,GTT	I1435V	XP_005260063.1
XM_005260007.4	2710	Missense Mutation	ATT,GTT	I1378V	XP_005260064.1
XM_005260008.2	2710	Missense Mutation	ATT,GTT	I831V	XP_005260065.1
XM_005260009.2	2710	Missense Mutation	ATT,GTT	I647V	XP_005260066.1
XM_005260010.3	2710	Missense Mutation	ATT,GTT	I647V	XP_005260067.1
XM_005260011.2	2710	Missense Mutation	ATT,GTT	I641V	XP_005260068.1
XM_005260012.2	2710	Missense Mutation	ATT,GTT	I514V	XP_005260069.1
XM_006722828.3	2710	Missense Mutation	ATT,GTT	I794V	XP_006722891.1
XM_011528163.2	2710	Missense Mutation	ATT,GTT	I647V	XP_011526465.1

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