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SNP ID: rs143723178
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.11:64318381 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CAGAGCCGCTGCAGCCATGGCCCCA[A/G]TCAAGGTGACCGCTGGCCCGGCCGG
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

There are no transcripts associated with this gene.

Gene: PRDX5
Gene Name: peroxiredoxin 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_012094.4	294	Missense Mutation	ATC,GTC	I56V	NP_036226.1
NM_181651.2	294	Missense Mutation	ATC,GTC	I56V	NP_857634.1
NM_181652.2	294	Missense Mutation	ATC,GTC	I56V	NP_857635.1
XM_005273882.4	294	Missense Mutation	ATC,GTC	I56V	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	294	Intron			NP_001273011.1
NM_001286084.1	294	Intron			NP_001273013.1
NM_016404.2	294	Intron			NP_057488.1

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