Product Details

SNP ID

rs190506495

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:156298781 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGGCATTGCTCTTTCAGGGTATAC[A/C]CTGCAGTGTGATGTTGGCAAAAACA

Phenotype

MIM: 610962 MIM: 615531

Polymorphism

A/C, Transversion 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

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001004319.2	857	Missense Mutation	GGT,TGT	G137C	NP_001004319.1

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