Product Details

SNP ID

rs113107098

Assay Type

Functionally Tested

NCBI dbSNP Submissions

6

Location

Chr.1:19251605 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACAGAGCTGGGATAGCGCGCGAGG[C/G]CCTCGGTCGGACGGGACGCTCGGGA

Phenotype

MIM: 616846

Polymorphism

C/G, Transversion Substitution

Allele Nomenclature

Literature Links

EMC1 PubMed Links

Additional Information

For this assay, SNP(s) [rs141918623] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

EMC1

Gene Name

ER membrane protein complex subunit 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001271427.1	25	Intron			NP_001258356.1
NM_001271428.1	25	Intron			NP_001258357.1
NM_001271429.1	25	Intron			NP_001258358.1
NM_015047.2	25	Intron			NP_055862.1
XM_005245787.1	25	Intron			XP_005245844.1
XM_005245788.1	25	Intron			XP_005245845.1

Gene

MRTO4

Gene Name

MRT4 homolog, ribosome maturation factor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016183.3	25	UTR 5			NP_057267.2
XM_006710675.3	25	Intron			XP_006710738.1

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