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SNP ID

rs146575130

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:26191291 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAGGTCCTGCCCTCTTCCAGGACG[C/G]CTGGGACATGCAGGAGTTCATCACT

Phenotype

MIM: 609121 MIM: 603272

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

CATSPER4 PubMed Links

Gene Details

Gene

CATSPER4

Gene Name

cation channel sperm associated 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_198137.1	218	Missense Mutation	GCC,GGC	A73G	NP_937770.1
XM_011541432.2	218	Missense Mutation	GCC,GGC	A73G	XP_011539734.1
XM_011541433.2	218	Missense Mutation	GCC,GGC	A73G	XP_011539735.1

Gene

CNKSR1

Gene Name

connector enhancer of kinase suppressor of Ras 1

There are no transcripts associated with this gene.

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