Product Details

SNP ID

rs113005319

Assay Type

Functionally tested

NCBI dbSNP Submissions

17

Location

Chr.1:1336473 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGCCCGACGCTCCTTCTCACGGCCC[C/G]GGGCCCGGCGGCTGCTCCGGGTGGA

Phenotype

MIM: 615467 MIM: 601365 MIM: 605865

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

CPTP PubMed Links

Gene Details

Gene

CPTP

Gene Name

ceramide-1-phosphate transfer protein

There are no transcripts associated with this gene.

Gene

DVL1

Gene Name

dishevelled segment polarity protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004421.2	1834	Missense Mutation	CCG,CGG	P561R	NP_004412.2
XM_005244731.3	1834	Missense Mutation	CCG,CGG	P586R	XP_005244788.1
XM_005244732.3	1834	UTR 3			XP_005244789.1
XM_005244733.3	1834	UTR 3			XP_005244790.1

Gene

MIR6808

Gene Name

microRNA 6808

There are no transcripts associated with this gene.

Gene

TAS1R3

Gene Name

taste 1 receptor member 3

There are no transcripts associated with this gene.

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