Product Details

SNP ID
rs146516071
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:48966227 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCACTGGCTGGGAAGACACAGAGG[A/T]GCTACGGCTGGTGCGGCCACCCGGC
Phenotype
MIM: 300408 MIM: 300281 MIM: 300713
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
GRIPAP1 PubMed Links

Gene Details

Gene
GRIPAP1
Gene Name
GRIP1 associated protein 1
There are no transcripts associated with this gene.

Gene
KCND1
Gene Name
potassium voltage-gated channel subfamily D member 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004979.5 1858 Missense Mutation ACC,TCC T516S NP_004970.3
XM_011543910.2 1858 Missense Mutation ACC,TCC T516S XP_011542212.1
XM_017029508.1 1858 Missense Mutation ACC,TCC T427S XP_016884997.1
XM_017029509.1 1858 Missense Mutation ACC,TCC T427S XP_016884998.1
XM_017029510.1 1858 Intron XP_016884999.1
Gene
OTUD5
Gene Name
OTU deubiquitinase 5
There are no transcripts associated with this gene.

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