Product Details

SNP ID

rs200982088

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:38352363 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCCACCGAGAGCACCCTCTTCATT[C/T]GGCAGAACCAGCTGGTCTACTATTT

Phenotype

MIM: 613452

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	1631	Missense Mutation	CGG,TGG	R310W	NP_067008.3
XM_005259114.4	1631	Missense Mutation	CGG,TGG	R310W	XP_005259171.1
XM_005259115.4	1631	Missense Mutation	CGG,TGG	R310W	XP_005259172.1
XM_005259116.2	1631	Missense Mutation	CGG,TGG	R310W	XP_005259173.1
XM_006723308.3	1631	Missense Mutation	CGG,TGG	R310W	XP_006723371.1
XM_006723310.2	1631	Missense Mutation	CGG,TGG	R310W	XP_006723373.1
XM_006723311.2	1631	Missense Mutation	CGG,TGG	R310W	XP_006723374.1
XM_011527174.2	1631	Missense Mutation	CGG,TGG	R310W	XP_011525476.1
XM_011527175.2	1631	Missense Mutation	CGG,TGG	R287W	XP_011525477.1
XM_011527176.2	1631	Missense Mutation	CGG,TGG	R310W	XP_011525478.1
XM_011527177.2	1631	Missense Mutation	CGG,TGG	R270W	XP_011525479.1
XM_011527178.2	1631	Missense Mutation	CGG,TGG	R195W	XP_011525480.1
XM_011527179.1	1631	Missense Mutation	CGG,TGG	R310W	XP_011525481.1
XM_011527182.2	1631	Intron			XP_011525484.1
XM_017027053.1	1631	Missense Mutation	CGG,TGG	R310W	XP_016882542.1
XM_017027054.1	1631	Missense Mutation	CGG,TGG	R195W	XP_016882543.1
XM_017027055.1	1631	Intron			XP_016882544.1

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