Product Details

SNP ID

rs201118748

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:41695832 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACATCCTACTCTGTTATTTTCATC[A/G]TGGGACTGGTTGGGAACATAATCGC

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	407	Intron			NP_001119526.1
NM_001126055.2	407	Intron			NP_001119527.1
NM_003688.3	407	Intron			NP_003679.2
XM_005272686.4	407	Intron			XP_005272743.1
XM_006724566.3	407	Intron			XP_006724629.1
XM_011543993.2	407	Intron			XP_011542295.1
XM_011543994.2	407	Intron			XP_011542296.1
XM_011543995.2	407	Intron			XP_011542297.1
XM_011543996.2	407	Intron			XP_011542298.1
XM_011543997.2	407	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	407	Missense Mutation	ATG,GTG	M67V	NP_001091048.1
NM_005300.3	407	Missense Mutation	ATG,GTG	M67V	NP_005291.1
XM_005272597.3	407	Missense Mutation	ATG,GTG	M67V	XP_005272654.1

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