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SNP ID

rs11247866

Assay Type

Functionally tested

NCBI dbSNP Submissions

50

Location

Chr.1:26191303 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CTCTTCCAGGACGCCTGGGACATGC[A/G]GGAGTTCATCACTCACATGTACATC

Phenotype

MIM: 609121 MIM: 603272

Polymorphism

A/G, Transition 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	230	Missense Mutation	CAG,CGG	Q77R	NP_937770.1
XM_011541432.2	230	Missense Mutation	CAG,CGG	Q77R	XP_011539734.1
XM_011541433.2	230	Missense Mutation	CAG,CGG	Q77R	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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