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SNP ID: rs148114433
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.16:29861160 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: ATCCAAACTCATGCTGATTTGGAAG[A/G]ACAGCGTGGCTCCAGGGTACAGCAG
Phenotype: MIM: 605893 MIM: 616667
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: CDIPT PubMed Links

Gene Details

Gene: CDIPT
Gene Name: CDP-diacylglycerol--inositol 3-phosphatidyltransferase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001286585.1	574	Missense Mutation	TCC,TTC	S48F	NP_001273514.1
NM_001286586.1	574	Missense Mutation	TCC,TTC	S28F	NP_001273515.1
NM_006319.4	574	Missense Mutation	TCC,TTC	S93F	NP_006310.1
XM_005255038.4	574	Missense Mutation	TCC,TTC	S117F	XP_005255095.1

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

There are no transcripts associated with this gene.

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