Product Details

SNP ID
rs146920583
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:41696305 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGCCATTTTTAACTTCATTCTTGT[A/G]GTAATGTTCTGGCTAATTTTCTTAC
Phenotype
MIM: 300172 MIM: 300241
Polymorphism
A/G, 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_001126054.2 880 Intron NP_001119526.1
NM_001126055.2 880 Intron NP_001119527.1
NM_003688.3 880 Intron NP_003679.2
XM_005272686.4 880 Intron XP_005272743.1
XM_006724566.3 880 Intron XP_006724629.1
XM_011543993.2 880 Intron XP_011542295.1
XM_011543994.2 880 Intron XP_011542296.1
XM_011543995.2 880 Intron XP_011542297.1
XM_011543996.2 880 Intron XP_011542298.1
XM_011543997.2 880 Intron XP_011542299.1
Gene
GPR34
Gene Name
G protein-coupled receptor 34
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001097579.1 880 Silent Mutation GTA,GTG V224V NP_001091048.1
NM_005300.3 880 Silent Mutation GTA,GTG V224V NP_005291.1
XM_005272597.3 880 Silent Mutation GTA,GTG V224V XP_005272654.1

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