Product Details

SNP ID

rs6609158

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:41695703 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CTGGCCTTACTCCTCCCACAGAATG[A/C]GCTTTATAACCAATCATAGCGACCA

Phenotype

MIM: 300172 MIM: 300241

Polymorphism

A/C, Transversion 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	278	Intron			NP_001119526.1
NM_001126055.2	278	Intron			NP_001119527.1
NM_003688.3	278	Intron			NP_003679.2
XM_005272686.4	278	Intron			XP_005272743.1
XM_006724566.3	278	Intron			XP_006724629.1
XM_011543993.2	278	Intron			XP_011542295.1
XM_011543994.2	278	Intron			XP_011542296.1
XM_011543995.2	278	Intron			XP_011542297.1
XM_011543996.2	278	Intron			XP_011542298.1
XM_011543997.2	278	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	278	Missense Mutation	AGC,CGC	S24R	NP_001091048.1
NM_005300.3	278	Missense Mutation	AGC,CGC	S24R	NP_005291.1
XM_005272597.3	278	Missense Mutation	AGC,CGC	S24R	XP_005272654.1

View Full Product Details