Product Details

SNP ID

rs148728451

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:41727425 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTCCTCGCAAGAGACTACTTCATG[C/T]TATGAGAAAATATTTTATGGCCATT

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	795	Intron			NP_001119526.1
NM_001126055.2	795	Intron			NP_001119527.1
NM_003688.3	795	Intron			NP_003679.2
XM_005272686.4	795	Intron			XP_005272743.1
XM_006724566.3	795	Intron			XP_006724629.1
XM_011543993.2	795	Intron			XP_011542295.1
XM_011543994.2	795	Intron			XP_011542296.1
XM_011543995.2	795	Intron			XP_011542297.1
XM_011543996.2	795	Intron			XP_011542298.1
XM_011543997.2	795	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	795	Silent Mutation	TGC,TGT	C133C	NP_543007.1
XM_017029414.1	795	Silent Mutation	TGC,TGT	C133C	XP_016884903.1

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