Product Details

SNP ID

rs142390134

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:18920686 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGATCCCTATGGCATCTTCTGCCT[C/T]GTCCTGACACCCACCAGGTAAGCCC

Phenotype

MIM: 606942 MIM: 604800

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

COPE PubMed Links

Gene Details

Gene

COPE

Gene Name

coatomer protein complex subunit epsilon

There are no transcripts associated with this gene.

Gene

DDX49

Gene Name

DEAD-box helicase 49

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_019070.4	289	Silent Mutation	CTC,CTT	L74L	NP_061943.2
XM_011528083.1	289	UTR 5			XP_011526385.1
XM_011528084.2	289	UTR 5			XP_011526386.1

Gene

HOMER3

Gene Name

homer scaffolding protein 3

There are no transcripts associated with this gene.

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