Product Details

SNP ID
rs144197742
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:41727314 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAGAGTGGTCAATTTTCTGGGAAC[G/T]CTATCCATGCATGCAAGTATGTTTG
Phenotype
MIM: 300172 MIM: 300748
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
CASK PubMed Links

Gene Details

Gene
CASK
Gene Name
calcium/calmodulin dependent serine protein kinase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001126054.2 684 Intron NP_001119526.1
NM_001126055.2 684 Intron NP_001119527.1
NM_003688.3 684 Intron NP_003679.2
XM_005272686.4 684 Intron XP_005272743.1
XM_006724566.3 684 Intron XP_006724629.1
XM_011543993.2 684 Intron XP_011542295.1
XM_011543994.2 684 Intron XP_011542296.1
XM_011543995.2 684 Intron XP_011542297.1
XM_011543996.2 684 Intron XP_011542298.1
XM_011543997.2 684 Intron XP_011542299.1
Gene
GPR82
Gene Name
G protein-coupled receptor 82
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_080817.4 684 Silent Mutation ACG,ACT T96T NP_543007.1
XM_017029414.1 684 Silent Mutation ACG,ACT T96T XP_016884903.1

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