Product Details

SNP ID
rs34815785
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:130344659 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGCCTGATTCCCACTGAGTTACGCC[A/G]AGAGGCTCTGGCCTTACAGGGGTCC
Phenotype
MIM: 613734 MIM: 612981
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CCDC115 PubMed Links

Gene Details

Gene
CCDC115
Gene Name
coiled-coil domain containing 115
There are no transcripts associated with this gene.

Gene
IMP4
Gene Name
IMP4 homolog, U3 small nucleolar ribonucleoprotein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001320304.1 851 Missense Mutation CAA,CGA Q48R NP_001307233.1
NM_001320305.1 851 Missense Mutation CAA,CGA Q48R NP_001307234.1
NM_001320306.1 851 UTR 5 NP_001307235.1
NM_001320307.1 851 UTR 5 NP_001307236.1
NM_001320309.1 851 UTR 5 NP_001307238.1
NM_001320310.1 851 UTR 5 NP_001307239.1
NM_001320311.1 851 UTR 5 NP_001307240.1
NM_033416.2 851 Missense Mutation CAA,CGA Q48R NP_219484.1

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