Product Details

SNP ID
rs147201246
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:45413840 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCGCTACAGCTTCCTTATTTTCGTC[G/T]CCTGTTCTCCTGATCCTGCGTGTTC
Phenotype
MIM: 608685
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
RIBC2 PubMed Links

Gene Details

Gene
RIBC2
Gene Name
RIB43A domain with coiled-coils 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_015653.4 72 UTR 5 NP_056468.3
XM_005261524.4 72 Intron XP_005261581.1
XM_011530126.2 72 Intron XP_011528428.1
XM_017028766.1 72 UTR 5 XP_016884255.1
Gene
SMC1B
Gene Name
structural maintenance of chromosomes 1B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001291501.1 72 Intron NP_001278430.1
NM_148674.4 72 Intron NP_683515.4
XM_011530144.2 72 Intron XP_011528446.1
XM_011530145.2 72 Intron XP_011528447.1

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