Product Details

SNP ID

rs2302182

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:38337320 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GTGCTGTGGGCCCTGCTGGCAGTGC[C/T]CCTGGCGTCGTGGAGGCTGTGGGCG

Phenotype

MIM: 613452 MIM: 603939

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CATSPERG PubMed Links

Gene Details

Gene

CATSPERG

Gene Name

cation channel sperm associated auxiliary subunit gamma

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_021185.4	789	Missense Mutation	CCC,CTC	P29L	NP_067008.3
XM_005259114.4	789	Missense Mutation	CCC,CTC	P29L	XP_005259171.1
XM_005259115.4	789	Missense Mutation	CCC,CTC	P29L	XP_005259172.1
XM_005259116.2	789	Missense Mutation	CCC,CTC	P29L	XP_005259173.1
XM_006723308.3	789	Missense Mutation	CCC,CTC	P29L	XP_006723371.1
XM_006723310.2	789	Missense Mutation	CCC,CTC	P29L	XP_006723373.1
XM_006723311.2	789	Missense Mutation	CCC,CTC	P29L	XP_006723374.1
XM_011527174.2	789	Missense Mutation	CCC,CTC	P29L	XP_011525476.1
XM_011527175.2	789	Missense Mutation	CCC,CTC	P29L	XP_011525477.1
XM_011527176.2	789	Missense Mutation	CCC,CTC	P29L	XP_011525478.1
XM_011527177.2	789	Missense Mutation	CCC,CTC	P29L	XP_011525479.1
XM_011527178.2	789	UTR 5			XP_011525480.1
XM_011527179.1	789	Missense Mutation	CCC,CTC	P29L	XP_011525481.1
XM_011527182.2	789	UTR 5			XP_011525484.1
XM_017027053.1	789	Missense Mutation	CCC,CTC	P29L	XP_016882542.1
XM_017027054.1	789	Intron			XP_016882543.1
XM_017027055.1	789	Intron			XP_016882544.1

Gene

KCNK6

Gene Name

potassium two pore domain channel subfamily K member 6

There are no transcripts associated with this gene.

View Full Product Details