Product Details

SNP ID

rs145874174

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:112013474 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCAGGAACCCGGCGATATGGCTGC[C/G]GCTGTGCCCCGCGCCGCATTTCTCT

Phenotype

MIM: 602287

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

ERP29 PubMed Links

Gene Details

Gene

ERP29

Gene Name

endoplasmic reticulum protein 29

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001034025.1	127	Silent Mutation	GCC,GCT	A3A	NP_001029197.1
NM_006817.3	127	Silent Mutation	GCC,GCT	A3A	NP_006808.1
XM_017018720.1	127	Intron			XP_016874209.1

Gene

TMEM116

Gene Name

transmembrane protein 116

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001193453.1	127	Intron			NP_001180382.1
NM_001193531.1	127	Intron			NP_001180460.1
NM_001294314.1	127	Intron			NP_001281243.1
NM_138341.2	127	Intron			NP_612350.1
XM_006719678.3	127	Intron			XP_006719741.1
XM_011538946.1	127	Intron			XP_011537248.1
XM_011538947.1	127	Intron			XP_011537249.1
XM_011538948.2	127	Intron			XP_011537250.1
XM_011538949.2	127	Intron			XP_011537251.1
XM_011538950.1	127	Intron			XP_011537252.1
XM_011538951.2	127	Intron			XP_011537253.1
XM_011538953.1	127	Intron			XP_011537255.1
XM_011538955.1	127	Intron			XP_011537257.1
XM_011538957.1	127	Intron			XP_011537259.1
XM_011538958.1	127	Intron			XP_011537260.1
XM_017020187.1	127	Intron			XP_016875676.1
XM_017020188.1	127	Intron			XP_016875677.1
XM_017020189.1	127	Intron			XP_016875678.1
XM_017020190.1	127	Intron			XP_016875679.1
XM_017020191.1	127	Intron			XP_016875680.1
XM_017020192.1	127	Intron			XP_016875681.1
XM_017020193.1	127	Intron			XP_016875682.1
XM_017020194.1	127	Intron			XP_016875683.1

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