Product Details

SNP ID

rs148584143

Assay Type

Functionally tested

NCBI dbSNP Submissions

24

Location

Chr.1:9730601 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTCCCCCTCCTCCTCCTCGCTGCT[C/G]TCCGACTCGGCGCTGGTGATGTCAT

Phenotype

MIM: 611321 MIM: 602839

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

CLSTN1 PubMed Links

Gene Details

Gene

CLSTN1

Gene Name

calsyntenin 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001009566.2	3646	Missense Mutation	GAC,GAG	D951E	NP_001009566.1
NM_001302883.1	3646	Missense Mutation	GAC,GAG	D932E	NP_001289812.1
NM_014944.4	3646	Missense Mutation	GAC,GAG	D941E	NP_055759.3

Gene

PIK3CD

Gene Name

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta

There are no transcripts associated with this gene.

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