Product Details

SNP ID

rs111284326

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:15451744 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAGGCAAAGACACGTTCTAAAAGG[C/T]CACCTCTTATATGCTGGTGACTTCC

Phenotype

MIM: 603033 MIM: 608315

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

COLQ PubMed Links

Gene Details

Gene

COLQ

Gene Name

collagen like tail subunit of asymmetric acetylcholinesterase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005677.3		Intron			NP_005668.2
NM_080538.2		Intron			NP_536799.1
NM_080539.3		Intron			NP_536800.2

Gene

EAF1

Gene Name

ELL associated factor 1

There are no transcripts associated with this gene.

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