Product Details

SNP ID: rs2286614
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.11:64300838 on Build GRCh38
Set Membership: HapMap
Context Sequence [VIC/FAM]: AGCAAGACCCGCGGGTGGCACAGCC[C/T]GGGGCGGGGCTCGTTGGACGAGGGG
Phenotype: MIM: 601998 MIM: 605720
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: ESRRA PubMed Links

Gene Details

Gene: ESRRA
Gene Name: estrogen related receptor alpha

There are no transcripts associated with this gene.

Gene: KCNK4
Gene Name: potassium two pore domain channel subfamily K member 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001317090.1	223	Intron			NP_001304019.1
NM_033310.2	223	Intron			NP_201567.1

Gene: KCNK4-TEX40
Gene Name: KCNK4-TEX40 readthrough

There are no transcripts associated with this gene.

Gene: TEX40
Gene Name: testis expressed 40

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001039496.1	223	Missense Mutation	CCG,CTG	P68L	NP_001034585.1

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