Product Details

SNP ID

rs147125272

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:41520465 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGACCCACTGTGGGGCTGTGCACAC[A/G]AGCTCAACAGCTTCCTCCAGATGTC

Phenotype

MIM: 300172

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	2493	Silent Mutation	CTC,CTT	L884L	NP_001119526.1
NM_001126055.2	2493	Silent Mutation	CTC,CTT	L883L	NP_001119527.1
NM_003688.3	2493	Silent Mutation	CTC,CTT	L907L	NP_003679.2
XM_005272686.4	2493	Silent Mutation	CTC,CTT	L906L	XP_005272743.1
XM_006724566.3	2493	Silent Mutation	CTC,CTT	L871L	XP_006724629.1
XM_011543993.2	2493	Silent Mutation	CTC,CTT	L912L	XP_011542295.1
XM_011543994.2	2493	Silent Mutation	CTC,CTT	L900L	XP_011542296.1
XM_011543995.2	2493	Silent Mutation	CTC,CTT	L889L	XP_011542297.1
XM_011543996.2	2493	Silent Mutation	CTC,CTT	L877L	XP_011542298.1
XM_011543997.2	2493	Silent Mutation	CTC,CTT	L721L	XP_011542299.1

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