Product Details

SNP ID
rs183754290
Assay Type
Functionally tested
NCBI dbSNP Submissions
4
Location
Chr.1:156293448 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGGTGACTGGGGAAGAGAGTATGC[C/T]AAGGCAGGATGAAGAGGGGAAGCTT
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
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001256604.1 630 Intron NP_001243533.1
NM_001256605.1 630 Silent Mutation TTA,TTG L223L NP_001243534.1
NM_001256608.1 630 Intron NP_001243537.1
NM_001256609.1 630 Silent Mutation TTA,TTG L228L NP_001243538.1
NM_144580.2 630 Silent Mutation TTA,TTG L309L NP_653181.1
XM_011509117.2 630 Silent Mutation TTA,TTG L132L XP_011507419.1
XM_017000149.1 630 Intron 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
There are no transcripts associated with this gene.

Gene
VHLL
Gene Name
von Hippel-Lindau tumor suppressor like
There are no transcripts associated with this gene.

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