Product Details

SNP ID

rs200713981

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:112019850 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGTTCAAGCGTCTTGCTGAAAACT[C/T]GGCTTCCAGCGATGATCTCTTGGTG

Phenotype

MIM: 602287 MIM: 612755

Polymorphism

C/T, 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	357	Intron			NP_001029197.1
NM_006817.3	357	Missense Mutation	TCG,TTG	S80L	NP_006808.1
XM_017018720.1	357	Intron			XP_016874209.1

Gene

NAA25

Gene Name

N(alpha)-acetyltransferase 25, NatB auxiliary subunit

There are no transcripts associated with this gene.

Gene

TMEM116

Gene Name

transmembrane protein 116

There are no transcripts associated with this gene.

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