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SNP ID: rs138995703
Assay Type: Functionally tested
NCBI dbSNP Submissions: 13
Location: Chr.1:156285371 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: ATCCCCGGGAGCTGAGTCCCTCAGA[A/G]TGGGGTCTTCAGCTGGATCTCCCAC
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	316	Intron			NP_001310543.1
NM_001323615.1	316	Intron			NP_001310544.1
NM_001323616.1	316	Intron			NP_001310545.1
NM_001323617.1	316	Intron			NP_001310546.1
NM_015327.2	316	Intron			NP_056142.2
XM_017000842.1	316	Intron			XP_016856331.1
XM_017000843.1	316	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	316	Missense Mutation	ATG,GTG	M49V	NP_115699.1

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