Product Details

SNP ID
rs201450941
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:15424699 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGCCGCTCACCACCGTCGGCTGCC[C/G]GGCCAGCCTCGGGCCCTGGCTCCCC
Phenotype
MIM: 609475
Polymorphism
C/G, Transversion 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 3236 Missense Mutation CCG,CGG P648R NP_067064.2
XM_005260004.4 3236 Missense Mutation CCG,CGG P1743R XP_005260061.1
XM_005260005.4 3236 Missense Mutation CCG,CGG P1686R XP_005260062.1
XM_005260006.4 3236 Missense Mutation CCG,CGG P1610R XP_005260063.1
XM_005260007.4 3236 Missense Mutation CCG,CGG P1553R XP_005260064.1
XM_005260008.2 3236 Missense Mutation CCG,CGG P1006R XP_005260065.1
XM_005260009.2 3236 Missense Mutation CCG,CGG P822R XP_005260066.1
XM_005260010.3 3236 Missense Mutation CCG,CGG P822R XP_005260067.1
XM_005260011.2 3236 Missense Mutation CCG,CGG P816R XP_005260068.1
XM_005260012.2 3236 Missense Mutation CCG,CGG P689R XP_005260069.1
XM_006722828.3 3236 Missense Mutation CCG,CGG P969R XP_006722891.1
XM_011528163.2 3236 Missense Mutation CCG,CGG P822R XP_011526465.1

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