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SNP ID

rs201308360

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:39659365 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTCTTCTGTTACCAATTGTATAGG[A/G]GATGTTAGAAGCTCTCAAGGCACTT

Phenotype

MIM: 606977

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

COG6 PubMed Links

Gene Details

Gene

COG6

Gene Name

component of oligomeric golgi complex 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001145079.1	255	Missense Mutation	GAG,GGG	E52G	NP_001138551.1
NM_020751.2	255	Missense Mutation	GAG,GGG	E52G	NP_065802.1
XM_011535168.1	255	Missense Mutation	GAG,GGG	E52G	XP_011533470.1

Gene

MIR4305

Gene Name

microRNA 4305

There are no transcripts associated with this gene.

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