Product Details

SNP ID
rs144183757
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.13:113325771 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCAAAATCAACTCCTGGTGCTGCT[G/T]AATTAAGGTCAGGGCCACCCGGAAG
Phenotype
MIM: 153330
Polymorphism
G/T, 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 1046 Missense Mutation AAG,CAG K271Q NP_001273661.1
NM_001286733.1 1046 Intron NP_001273662.1
NM_024719.3 1046 Missense Mutation AAG,CAG K271Q NP_078995.2
XM_005268333.3 1046 Missense Mutation AAG,CAG K218Q XP_005268390.1
XM_011537521.2 1046 Intron XP_011535823.1
XM_011537522.2 1046 Intron XP_011535824.1
XM_017020755.1 1046 Missense Mutation AAG,CAG K193Q XP_016876244.1
XM_017020756.1 1046 Missense Mutation AAG,CAG K168Q XP_016876245.1
Gene
LAMP1
Gene Name
lysosomal associated membrane protein 1
There are no transcripts associated with this gene.

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