Product Details

SNP ID
rs201588323
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:14009091 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTCTCAGTTGGGGCTTCTACCGAC[C/T]GGCGGGTGTTGCAGTACAGGTCGTG
Phenotype
MIM: 300962
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
GEMIN8 PubMed Links

Gene Details

Gene
GEMIN8
Gene Name
gem nuclear organelle associated protein 8
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001042479.1 894 Missense Mutation CAG,CGG Q184R NP_001035944.1
NM_001042480.1 894 Missense Mutation CAG,CGG Q184R NP_001035945.1
NM_017856.2 894 Missense Mutation CAG,CGG Q184R NP_060326.1
XM_005274555.2 894 Missense Mutation CAG,CGG Q285R XP_005274612.1
XM_017029617.1 894 Missense Mutation CAG,CGG Q184R XP_016885106.1
XM_017029618.1 894 Missense Mutation CAG,CGG Q184R XP_016885107.1

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