Product Details

SNP ID
rs200848350
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:26913561 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGTTGGCCACTGCCTCCACTGCTG[C/T]TGGGCTCCTCCAGCAGAATCTTCTT
Phenotype
MIM: 604630 MIM: 610325
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
NR0B2 PubMed Links

Gene Details

Gene
NR0B2
Gene Name
nuclear receptor subfamily 0 group B member 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_021969.2 516 Missense Mutation AAC,AGC N127S NP_068804.1
XM_011542297.2 516 Missense Mutation AAC,AGC N127S XP_011540599.1
Gene
NUDC
Gene Name
nuclear distribution C, dynein complex regulator
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_006600.3 516 Intron NP_006591.1
XM_011540529.1 516 Intron XP_011538831.1
XM_011540530.1 516 Intron XP_011538832.1
XM_017000094.1 516 Intron XP_016855583.1
XM_017000095.1 516 Intron XP_016855584.1
XM_017000096.1 516 Intron XP_016855585.1

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