Product Details

SNP ID
rs190491145
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:41727408 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TACCTTAATGCAAAAGGATTCCTCG[C/T]AAGAGACTACTTCATGCTATGAGAA
Phenotype
MIM: 300172 MIM: 300748
Polymorphism
C/T, Transition 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_001126054.2 778 Intron NP_001119526.1
NM_001126055.2 778 Intron NP_001119527.1
NM_003688.3 778 Intron NP_003679.2
XM_005272686.4 778 Intron XP_005272743.1
XM_006724566.3 778 Intron XP_006724629.1
XM_011543993.2 778 Intron XP_011542295.1
XM_011543994.2 778 Intron XP_011542296.1
XM_011543995.2 778 Intron XP_011542297.1
XM_011543996.2 778 Intron XP_011542298.1
XM_011543997.2 778 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_080817.4 778 Nonsense Mutation CAA,TAA Q128* NP_543007.1
XM_017029414.1 778 Nonsense Mutation CAA,TAA Q128* XP_016884903.1

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