Product Details

SNP ID: rs147509014
Assay Type: Functionally tested
NCBI dbSNP Submissions: 5
Location: Chr.1:156285606 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: AACCTGCTGCCTGAGAAAGCGGCCC[A/G]TGCCTTCGTGCCTATTGACCTACAG
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	551	Intron			NP_001310543.1
NM_001323615.1	551	Intron			NP_001310544.1
NM_001323616.1	551	Intron			NP_001310545.1
NM_001323617.1	551	Intron			NP_001310546.1
NM_015327.2	551	Intron			NP_056142.2
XM_017000842.1	551	Intron			XP_016856331.1
XM_017000843.1	551	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	551	Missense Mutation	CAT,CGT	H127R	NP_115699.1

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