Product Details

SNP ID
rs200753978
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.13:113325947 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACGGGCAAGATGTCCACAAACAGG[C/G]AGATGAACCAGCGGGACACCAGCAG
Phenotype
MIM: 153330
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
GRTP1 PubMed Links

Gene Details

Gene
GRTP1
Gene Name
growth hormone regulated TBC protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001286732.1 942 Missense Mutation TCC,TGC S236C NP_001273661.1
NM_001286733.1 942 Intron NP_001273662.1
NM_024719.3 942 Missense Mutation TCC,TGC S236C NP_078995.2
XM_005268333.3 942 Missense Mutation TCC,TGC S183C XP_005268390.1
XM_011537521.2 942 Intron XP_011535823.1
XM_011537522.2 942 Intron XP_011535824.1
XM_017020755.1 942 Missense Mutation TCC,TGC S158C XP_016876244.1
XM_017020756.1 942 Missense Mutation TCC,TGC S133C XP_016876245.1
Gene
LAMP1
Gene Name
lysosomal associated membrane protein 1
There are no transcripts associated with this gene.

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