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SNP ID

rs147933268

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:156293093 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTACTTCTTGTGGTGCAGCAGCAGA[A/G]CCAAGCCGCCCCCTAGCAGCATGAG

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001256604.1	875	Missense Mutation	GCT,GTT	A342V	NP_001243533.1
NM_001256605.1	875	Missense Mutation	GCT,GTT	A305V	NP_001243534.1
NM_001256608.1	875	Silent Mutation	GGC,GGT	G305G	NP_001243537.1
NM_001256609.1	875	Missense Mutation	GCT,GTT	A310V	NP_001243538.1
NM_144580.2	875	Missense Mutation	GCT,GTT	A391V	NP_653181.1
XM_011509117.2	875	Missense Mutation	GCT,GTT	A214V	XP_011507419.1
XM_017000149.1	875	UTR 3			XP_016855638.1

Gene

SMG5

Gene Name

SMG5, nonsense mediated mRNA decay factor

There are no transcripts associated with this gene.

Gene

TMEM79

Gene Name

transmembrane protein 79

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032323.2	875	Intron			NP_115699.1

Gene

VHLL

Gene Name

von Hippel-Lindau tumor suppressor like

There are no transcripts associated with this gene.

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