Product Details

SNP ID

rs114923885

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:29860585 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGTGTGCAGGAAATGCTTACCCTC[A/G]AGGTGTAGTAGATCCGAAGCACCGG

Phenotype

MIM: 605893

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	706	Missense Mutation	TCG,TTG	S92L	NP_001273514.1
NM_001286586.1	706	Missense Mutation	TCG,TTG	S72L	NP_001273515.1
NM_006319.4	706	Missense Mutation	TCG,TTG	S137L	NP_006310.1
XM_005255038.4	706	Missense Mutation	TCG,TTG	S161L	XP_005255095.1

Gene

CDIPT-AS1

Gene Name

CDIPT antisense RNA 1 (head to head)

There are no transcripts associated with this gene.

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