Product Details

SNP ID
rs140048997
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:127399941 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCGAAATCGCCTACCCAGCAGTCC[A/G]GGGGTTGCTCGGCTCCTGTGTGCAG
Phenotype
MIM: 605245
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
GARNL3 PubMed Links

Gene Details

Gene
GARNL3
Gene Name
GTPase activating Rap/RanGAP domain like 3
There are no transcripts associated with this gene.

Gene
SLC2A8
Gene Name
solute carrier family 2 member 8
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001271711.1 554 Missense Mutation CAG,CGG Q154R NP_001258640.1
NM_001271712.1 554 UTR 5 NP_001258641.1
NM_014580.4 554 Missense Mutation CAG,CGG Q154R NP_055395.2
XM_006717084.3 554 Missense Mutation CAG,CGG Q154R XP_006717147.1
XM_011518602.2 554 Missense Mutation CAG,CGG Q154R XP_011516904.1
XM_011518603.2 554 Missense Mutation CAG,CGG Q19R XP_011516905.1
XM_011518604.2 554 Missense Mutation CAG,CGG Q19R XP_011516906.1
XM_017014653.1 554 UTR 5 XP_016870142.1

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