Product Details

SNP ID

rs77103649

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:5720763 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGCTGATGTTGATGCTGGTGGCGG[C/G]TGTGACCATGTGGCTCCGACCGCTG

Phenotype

MIM: 605490

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

CATSPERD PubMed Links

Gene Details

Gene

CATSPERD

Gene Name

cation channel sperm associated auxiliary subunit delta

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_152784.3	379	Missense Mutation	GCT,GGT	A9G	NP_689997.3
XM_011527885.2	379	Missense Mutation	GCT,GGT	A9G	XP_011526187.1
XM_011527886.2	379	Missense Mutation	GCT,GGT	A9G	XP_011526188.1
XM_011527887.2	379	Missense Mutation	GCT,GGT	A9G	XP_011526189.1
XM_011527888.2	379	Missense Mutation	GCT,GGT	A9G	XP_011526190.1
XM_011527889.2	379	Missense Mutation	GCT,GGT	A9G	XP_011526191.1
XM_011527890.2	379	Missense Mutation	GCT,GGT	A9G	XP_011526192.1
XM_011527891.1	379	Intron			XP_011526193.1
XM_011527892.1	379	Intron			XP_011526194.1
XM_017026564.1	379	Missense Mutation	GCT,GGT	A9G	XP_016882053.1
XM_017026565.1	379	UTR 5			XP_016882054.1
XM_017026566.1	379	Missense Mutation	GCT,GGT	A9G	XP_016882055.1

Gene

LONP1

Gene Name

lon peptidase 1, mitochondrial

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001276479.1	379	Intron			NP_001263408.1
NM_001276480.1	379	Intron			NP_001263409.1
NM_004793.3	379	Intron			NP_004784.2
XM_011528441.2	379	Intron			XP_011526743.1

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