Product Details

SNP ID

rs148771932

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:18920646 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACAGCAGCGTTTGTCCTTCCCATCT[C/T]GCAGAAGCTGTCTGAGGATCCCTAT

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	249	Missense Mutation	TCG,TTG	S61L	NP_061943.2
XM_011528083.1	249	UTR 5			XP_011526385.1
XM_011528084.2	249	Intron			XP_011526386.1

Gene

HOMER3

Gene Name

homer scaffolding protein 3

There are no transcripts associated with this gene.

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