Product Details

SNP ID: rs917205550
Assay Type: Functionally tested
NCBI dbSNP Submissions: 1
Location: Chr.1:156284217 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: ATCCTCCTCTGATGCTTTTTTTTGT[C/T]GGCAGATTCAGCAGGGCGGGGCCTG
Phenotype: MIM: 610962 MIM: 615531
Polymorphism: C/T, 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		Intron			NP_001310543.1
NM_001323615.1		Intron			NP_001310544.1
NM_001323616.1		Intron			NP_001310545.1
NM_001323617.1		Intron			NP_001310546.1
NM_015327.2		Intron			NP_056142.2

Gene: TMEM79
Gene Name: transmembrane protein 79

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032323.2		Intron			NP_115699.1

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