Product Details

SNP ID
rs140929930
Assay Type
Functionally tested
NCBI dbSNP Submissions
8
Location
Chr.1:156293493 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGCTTGGCAGGGCAGGGCTGATTC[A/T]CGGCCCCCCGGCTTCTGGGAGTAAG
Phenotype
MIM: 610962 MIM: 615531
Polymorphism
A/T, Transversion 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_001256604.1 585 Intron NP_001243533.1
NM_001256605.1 585 Silent Mutation CGA,CGT R208R NP_001243534.1
NM_001256608.1 585 Intron NP_001243537.1
NM_001256609.1 585 Silent Mutation CGA,CGT R213R NP_001243538.1
NM_144580.2 585 Silent Mutation CGA,CGT R294R NP_653181.1
XM_011509117.2 585 Silent Mutation CGA,CGT R117R XP_011507419.1
XM_017000149.1 585 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.

View Full Product Details