Product Details

SNP ID

rs145024546

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:70526700 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCTTGCAGAGAGCCACTGGCATCA[C/G]CTTTGCCATTCATGGAAACTTTTCT

Phenotype

MIM: 606976 MIM: 605592

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

COG4 PubMed Links

Gene Details

Gene

COG4

Gene Name

component of oligomeric golgi complex 4

There are no transcripts associated with this gene.

Gene

SF3B3

Gene Name

splicing factor 3b subunit 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_012426.4	255	Missense Mutation	ACC,AGC	T15S	NP_036558.3

Gene

SNORD111B

Gene Name

small nucleolar RNA, C/D box 111B

There are no transcripts associated with this gene.

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