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SNP ID: rs550819
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.11:64317602 on Build GRCh38
Set Membership: HapMap
Context Sequence [VIC/FAM]: GCTGCCTCACTTCCGGGGATGCTCC[A/T]CTCGATGCTATTGGATAGCCAGGAG
Phenotype: MIM: 601998 MIM: 606583
Polymorphism: A/T, Transversion 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	483	Intron			NP_001269379.1
NM_001282451.1	483	Intron			NP_001269380.1
NM_004451.4	483	Intron			NP_004442.3
XM_017017313.1	483	Intron			XP_016872802.1

Gene: PRDX5
Gene Name: peroxiredoxin 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_012094.4	483	Intron			NP_036226.1
NM_181651.2	483	Intron			NP_857634.1
NM_181652.2	483	Intron			NP_857635.1
XM_005273882.4	483	Intron			XP_005273939.2

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001286082.1	483	UTR 5			NP_001273011.1
NM_001286084.1	483	UTR 5			NP_001273013.1
NM_016404.2	483	UTR 5			NP_057488.1

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