Product Details

SNP ID: rs6684514
Assay Type: Functionally tested
NCBI dbSNP Submissions: 70
Location: Chr.1:156285665 on Build GRCh38
Set Membership: HapMap
Context Sequence [VIC/FAM]: GCGGCAGCCCCAAGAAGACCTTATC[A/G]TGCGCTGTGAGGCAGGCGAGGGCGA
Phenotype: MIM: 610962 MIM: 615531
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: GLMP PubMed Links

Gene Details

Gene: GLMP
Gene Name: glycosylated lysosomal membrane protein

There are no transcripts associated with this gene.

Gene: SMG5
Gene Name: SMG5, nonsense mediated mRNA decay factor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001323614.1	610	Intron			NP_001310543.1
NM_001323615.1	610	Intron			NP_001310544.1
NM_001323616.1	610	Intron			NP_001310545.1
NM_001323617.1	610	Intron			NP_001310546.1
NM_015327.2	610	Intron			NP_056142.2
XM_017000842.1	610	Intron			XP_016856331.1
XM_017000843.1	610	Intron			XP_016856332.1

Gene: TMEM79
Gene Name: transmembrane protein 79

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032323.2	610	Missense Mutation	ATG,GTG	M147V	NP_115699.1

View Full Product Details