Product Details

SNP ID
rs185203446
Assay Type
Functionally tested
NCBI dbSNP Submissions
6
Location
Chr.1:19645972 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAGATGTGCAGCCTGGCCCTGCAG[A/C]AGCTCATTAGCATGGATTTGTTTTG
Phenotype
MIM: 600613
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
MINOS1-NBL1 PubMed Links

Gene Details

Gene
MINOS1-NBL1
Gene Name
MINOS1-NBL1 readthrough
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001204088.1 207 Intron NP_001191017.1
NM_001204089.1 207 Intron NP_001191018.1
Gene
NBL1
Gene Name
neuroblastoma 1, DAN family BMP antagonist
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001204084.2 207 Intron NP_001191013.1
NM_001204085.1 207 Intron NP_001191014.1
NM_001204086.2 207 Missense Mutation AAG,CAG K8Q NP_001191015.1
NM_001278164.1 207 Intron NP_001265093.1
NM_001278165.1 207 Intron NP_001265094.1
NM_001278166.1 207 Intron NP_001265095.1
NM_005380.7 207 Intron NP_005371.2
NM_182744.3 207 Intron NP_877421.2

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