Product Details

SNP ID

rs143957874

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:112013592 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACCAAGGGCGCCCTTCCCCTGGAT[A/G]CGGTCACTTTCTACAAGGTAACCGG

Phenotype

MIM: 602287

Polymorphism

A/G, Transition 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	245	Missense Mutation	ACG,GCG	T43A	NP_001029197.1
NM_006817.3	245	Missense Mutation	ACG,GCG	T43A	NP_006808.1
XM_017018720.1	245	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	245	Intron			NP_001180382.1
NM_001193531.1	245	Intron			NP_001180460.1
NM_001294314.1	245	Intron			NP_001281243.1
NM_138341.2	245	Intron			NP_612350.1
XM_006719678.3	245	Intron			XP_006719741.1
XM_011538946.1	245	Intron			XP_011537248.1
XM_011538947.1	245	Intron			XP_011537249.1
XM_011538948.2	245	Intron			XP_011537250.1
XM_011538949.2	245	Intron			XP_011537251.1
XM_011538950.1	245	Intron			XP_011537252.1
XM_011538951.2	245	Intron			XP_011537253.1
XM_011538953.1	245	Intron			XP_011537255.1
XM_011538955.1	245	Intron			XP_011537257.1
XM_011538957.1	245	Intron			XP_011537259.1
XM_011538958.1	245	Intron			XP_011537260.1
XM_017020187.1	245	Intron			XP_016875676.1
XM_017020188.1	245	Intron			XP_016875677.1
XM_017020189.1	245	Intron			XP_016875678.1
XM_017020190.1	245	Intron			XP_016875679.1
XM_017020191.1	245	Intron			XP_016875680.1
XM_017020192.1	245	Intron			XP_016875681.1
XM_017020193.1	245	Intron			XP_016875682.1
XM_017020194.1	245	Intron			XP_016875683.1

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