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SNP ID: rs2231991
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.19:18919731 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GGCCCCTACAAGGGGCCCCTACAAG[C/T]GGCCACAAGGATGGCAGGCTTCGCG
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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_007263.3	57	Intron			NP_009194.2
NM_199442.1	57	Intron			NP_955474.1
NM_199444.1	57	Intron			NP_955476.1
XM_011527655.1	57	Intron			XP_011525957.1
XM_011527656.1	57	Intron			XP_011525958.1

Gene: DDX49
Gene Name: DEAD-box helicase 49

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_019070.4	57	UTR 5			NP_061943.2
XM_011528083.1	57	UTR 5			XP_011526385.1
XM_011528084.2	57	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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