Product Details

SNP ID

rs148652429

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:112013594 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAAGGGCGCCCTTCCCCTGGATAC[C/G]GTCACTTTCTACAAGGTAACCGGGG

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	247	Silent Mutation	ACC,ACG	T43T	NP_001029197.1
NM_006817.3	247	Silent Mutation	ACC,ACG	T43T	NP_006808.1
XM_017018720.1	247	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	247	Intron			NP_001180382.1
NM_001193531.1	247	Intron			NP_001180460.1
NM_001294314.1	247	Intron			NP_001281243.1
NM_138341.2	247	Intron			NP_612350.1
XM_006719678.3	247	Intron			XP_006719741.1
XM_011538946.1	247	Intron			XP_011537248.1
XM_011538947.1	247	Intron			XP_011537249.1
XM_011538948.2	247	Intron			XP_011537250.1
XM_011538949.2	247	Intron			XP_011537251.1
XM_011538950.1	247	Intron			XP_011537252.1
XM_011538951.2	247	Intron			XP_011537253.1
XM_011538953.1	247	Intron			XP_011537255.1
XM_011538955.1	247	Intron			XP_011537257.1
XM_011538957.1	247	Intron			XP_011537259.1
XM_011538958.1	247	Intron			XP_011537260.1
XM_017020187.1	247	Intron			XP_016875676.1
XM_017020188.1	247	Intron			XP_016875677.1
XM_017020189.1	247	Intron			XP_016875678.1
XM_017020190.1	247	Intron			XP_016875679.1
XM_017020191.1	247	Intron			XP_016875680.1
XM_017020192.1	247	Intron			XP_016875681.1
XM_017020193.1	247	Intron			XP_016875682.1
XM_017020194.1	247	Intron			XP_016875683.1

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