Product Details

SNP ID
rs11551039
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:15424963 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACGCCGAACTGCCGCAGGTGTGCC[C/T]GTGCGTGGCTGGCCAGGGCCTTGCG
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 2972 Missense Mutation CAG,CGG Q560R NP_067064.2
XM_005260004.4 2972 Missense Mutation CAG,CGG Q1655R XP_005260061.1
XM_005260005.4 2972 Missense Mutation CAG,CGG Q1598R XP_005260062.1
XM_005260006.4 2972 Missense Mutation CAG,CGG Q1522R XP_005260063.1
XM_005260007.4 2972 Missense Mutation CAG,CGG Q1465R XP_005260064.1
XM_005260008.2 2972 Missense Mutation CAG,CGG Q918R XP_005260065.1
XM_005260009.2 2972 Missense Mutation CAG,CGG Q734R XP_005260066.1
XM_005260010.3 2972 Missense Mutation CAG,CGG Q734R XP_005260067.1
XM_005260011.2 2972 Missense Mutation CAG,CGG Q728R XP_005260068.1
XM_005260012.2 2972 Missense Mutation CAG,CGG Q601R XP_005260069.1
XM_006722828.3 2972 Missense Mutation CAG,CGG Q881R XP_006722891.1
XM_011528163.2 2972 Missense Mutation CAG,CGG Q734R XP_011526465.1

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