Product Details

SNP ID

rs137981237

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:112013589 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCACACCAAGGGCGCCCTTCCCCTG[G/T]ATACGGTCACTTTCTACAAGGTAAC

Phenotype

MIM: 602287

Polymorphism

G/T, 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	242	Missense Mutation	GAT,TAT	D42Y	NP_001029197.1
NM_006817.3	242	Missense Mutation	GAT,TAT	D42Y	NP_006808.1
XM_017018720.1	242	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	242	Intron			NP_001180382.1
NM_001193531.1	242	Intron			NP_001180460.1
NM_001294314.1	242	Intron			NP_001281243.1
NM_138341.2	242	Intron			NP_612350.1
XM_006719678.3	242	Intron			XP_006719741.1
XM_011538946.1	242	Intron			XP_011537248.1
XM_011538947.1	242	Intron			XP_011537249.1
XM_011538948.2	242	Intron			XP_011537250.1
XM_011538949.2	242	Intron			XP_011537251.1
XM_011538950.1	242	Intron			XP_011537252.1
XM_011538951.2	242	Intron			XP_011537253.1
XM_011538953.1	242	Intron			XP_011537255.1
XM_011538955.1	242	Intron			XP_011537257.1
XM_011538957.1	242	Intron			XP_011537259.1
XM_011538958.1	242	Intron			XP_011537260.1
XM_017020187.1	242	Intron			XP_016875676.1
XM_017020188.1	242	Intron			XP_016875677.1
XM_017020189.1	242	Intron			XP_016875678.1
XM_017020190.1	242	Intron			XP_016875679.1
XM_017020191.1	242	Intron			XP_016875680.1
XM_017020192.1	242	Intron			XP_016875681.1
XM_017020193.1	242	Intron			XP_016875682.1
XM_017020194.1	242	Intron			XP_016875683.1

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