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SNP ID: rs200039730
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.11:64314359 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CCCCTGGCAGTCGCTGGAGGCCCCC[A/G]GAAGACAGGTGAGAGCACTGTGGGT
Phenotype: MIM: 601998 MIM: 606583
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: ESRRA PubMed Links

Gene Details

Gene: ESRRA
Gene Name: estrogen related receptor alpha

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001282450.1	784	Intron			NP_001269379.1
NM_001282451.1	784	Missense Mutation	CAG,CGG	Q188R	NP_001269380.1
NM_004451.4	784	Missense Mutation	CAG,CGG	Q188R	NP_004442.3
XM_017017313.1	784	Missense Mutation	CAG,CGG	Q198R	XP_016872802.1

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

There are no transcripts associated with this gene.

Gene: PRDX5
Gene Name: peroxiredoxin 5

There are no transcripts associated with this gene.

Gene: TEX40
Gene Name: testis expressed 40

There are no transcripts associated with this gene.

Gene: TRMT112
Gene Name: tRNA methyltransferase 11-2 homolog (S. cerevisiae)

There are no transcripts associated with this gene.

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