Product Details

SNP ID
rs143774398
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:33251558 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCATTTCTGAAGTTGGTGAAACTC[C/T]GCATTACATCCTGACTCAGAGATTC
Phenotype
MIM: 603443
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
HCG25 PubMed Links

Gene Details

Gene
HCG25
Gene Name
HLA complex group 25 (non-protein coding)
There are no transcripts associated with this gene.

Gene
VPS52
Gene Name
VPS52, GARP complex subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001289174.1 2154 Missense Mutation CAG,CGG Q595R NP_001276103.1
NM_001289175.1 2154 Missense Mutation CAG,CGG Q537R NP_001276104.1
NM_001289176.1 2154 Missense Mutation CAG,CGG Q473R NP_001276105.1
NM_022553.5 2154 Missense Mutation CAG,CGG Q662R NP_072047.4
XM_011514797.1 2154 Missense Mutation CAG,CGG Q595R XP_011513099.1
XM_011514798.2 2154 Missense Mutation CAG,CGG Q595R XP_011513100.1
XM_011514799.1 2154 Missense Mutation CAG,CGG Q595R XP_011513101.1
XM_017011177.1 2154 Intron XP_016866666.1
XM_017011178.1 2154 Missense Mutation CAG,CGG Q537R XP_016866667.1
XM_017011179.1 2154 Intron XP_016866668.1

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