Product Details

SNP ID
rs200509774
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.19:3633448 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGGCTGCACTTACTGTGTCGCTCT[C/T]GCCGTCGGAGGCCGGGGGGGCCTGG
Phenotype
MIM: 606102
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
CACTIN PubMed Links

Gene Details

Gene
CACTIN
Gene Name
cactin, spliceosome C complex subunit
There are no transcripts associated with this gene.

Gene
PIP5K1C
Gene Name
phosphatidylinositol-4-phosphate 5-kinase type 1 gamma
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001195733.1 2388 Intron NP_001182662.1
NM_001300849.1 2388 Intron NP_001287778.1
NM_012398.2 2388 Missense Mutation AAG,GAG K665E NP_036530.1
XM_011527845.1 2388 UTR 3 XP_011526147.1
XM_011527846.1 2388 UTR 3 XP_011526148.1
XM_011527848.1 2388 UTR 3 XP_011526150.1
XM_011527849.1 2388 UTR 3 XP_011526151.1
XM_011527850.2 2388 UTR 3 XP_011526152.1
XM_011527851.2 2388 UTR 3 XP_011526153.1
XM_011527853.2 2388 UTR 3 XP_011526155.1
XM_017026540.1 2388 Missense Mutation AAG,GAG K654E XP_016882029.1

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