Product Details

SNP ID
rs199548721
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:29872231 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTGCTGAAGTCCGACTCCACGGTGA[A/T]GGGGCTGTAGGAGTGGGAGCCCGAG
Phenotype
MIM: 605893 MIM: 616667
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
CDIPT PubMed Links

Gene Details

Gene
CDIPT
Gene Name
CDP-diacylglycerol--inositol 3-phosphatidyltransferase
There are no transcripts associated with this gene.

Gene
CDIPT-AS1
Gene Name
CDIPT antisense RNA 1 (head to head)
There are no transcripts associated with this gene.

Gene
SEZ6L2
Gene Name
seizure related 6 homolog like 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001114099.2 2751 Missense Mutation ATC,TTC I817F NP_001107571.1
NM_001114100.2 2751 Missense Mutation ATC,TTC I786F NP_001107572.1
NM_001243332.1 2751 Missense Mutation ATC,TTC I900F NP_001230261.1
NM_001243333.1 2751 Missense Mutation ATC,TTC I856F NP_001230262.1
NM_012410.3 2751 Missense Mutation ATC,TTC I830F NP_036542.1
NM_201575.3 2751 Missense Mutation ATC,TTC I887F NP_963869.2
XM_005255252.2 2751 Missense Mutation ATC,TTC I836F XP_005255309.1
XM_017023135.1 2751 Missense Mutation ATC,TTC I716F XP_016878624.1

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