Product Details

SNP ID
rs72854959
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:130342842 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCAGGCACCAGTGAAGCGTCTAAG[G/T]GACCATCTTGGTTGAGGGCGGAAGT
Phenotype
MIM: 613734 MIM: 612981
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
CCDC115 PubMed Links

Gene Details

Gene
CCDC115
Gene Name
coiled-coil domain containing 115
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001321118.1 618 Intron NP_001308047.1
NM_001321119.1 618 Intron NP_001308048.1
NM_032357.3 618 Intron NP_115733.2
Gene
IMP4
Gene Name
IMP4 homolog, U3 small nucleolar ribonucleoprotein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001320304.1 618 UTR 5 NP_001307233.1
NM_001320305.1 618 UTR 5 NP_001307234.1
NM_001320306.1 618 UTR 5 NP_001307235.1
NM_001320307.1 618 UTR 5 NP_001307236.1
NM_001320309.1 618 UTR 5 NP_001307238.1
NM_001320310.1 618 UTR 5 NP_001307239.1
NM_001320311.1 618 UTR 5 NP_001307240.1
NM_033416.2 618 UTR 5 NP_219484.1

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