Product Details

SNP ID
rs10464867
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.8:89933370 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
TGCGTTTATTACAATGTAATCCCAA[C/T]TTAAGGAGCATCTATGCAGCTACAG
Phenotype
MIM: 602667 MIM: 604598
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
NBN PubMed Links

Gene Details

Gene
NBN
Gene Name
nibrin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001024688.2 4690 UTR 3 NP_001019859.1
NM_002485.4 4690 UTR 3 NP_002476.2
XM_011517045.1 4690 Intron XP_011515347.1
XM_011517046.1 4690 Intron XP_011515348.1
XM_017013460.1 4690 Intron XP_016868949.1
XM_017013461.1 4690 Intron XP_016868950.1
XM_017013462.1 4690 Intron XP_016868951.1
Gene
OSGIN2
Gene Name
oxidative stress induced growth inhibitor family member 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001126111.2 4690 Intron NP_001119583.1
NM_004337.2 4690 Intron NP_004328.1

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