Product Details

SNP ID
rs201563954
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:156293530 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTCTGGGAGTAAGCCACTGGTCGC[C/T]ACTGTGCAAAGCCTGATGGGAGGGA
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_001256604.1 548 Intron NP_001243533.1
NM_001256605.1 548 Nonsense Mutation TAG,TGG *196W NP_001243534.1
NM_001256608.1 548 Intron NP_001243537.1
NM_001256609.1 548 Nonsense Mutation TAG,TGG *201W NP_001243538.1
NM_144580.2 548 Nonsense Mutation TAG,TGG *282W NP_653181.1
XM_011509117.2 548 Nonsense Mutation TAG,TGG *105W XP_011507419.1
XM_017000149.1 548 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