Product Details

SNP ID
rs138217163
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:10761429 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCGCAAGGTGAAGCTGCCCATCAT[C/T]GGGGTGGTGGAGAACATGAGTGGCT
Phenotype
MIM: 600280
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
NUBP1 PubMed Links

Gene Details

Gene
NUBP1
Gene Name
nucleotide binding protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001278506.1 611 Silent Mutation ATC,ATT I213I NP_001265435.1
NM_001323594.1 611 Silent Mutation ATC,ATT I201I NP_001310523.1
NM_001323595.1 611 Silent Mutation ATC,ATT I224I NP_001310524.1
NM_001323596.1 611 Silent Mutation ATC,ATT I224I NP_001310525.1
NM_001323597.1 611 Silent Mutation ATC,ATT I175I NP_001310526.1
NM_002484.3 611 Silent Mutation ATC,ATT I224I NP_002475.2
XM_017023252.1 611 Silent Mutation ATC,ATT I201I XP_016878741.1
Gene
TVP23A
Gene Name
trans-golgi network vesicle protein 23 homolog A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001079512.3 611 Intron NP_001072980.1
NM_001318873.1 611 Intron NP_001305802.1
XM_006720944.3 611 Intron XP_006721007.1
XM_011522654.2 611 Intron XP_011520956.1
XM_017023649.1 611 Intron XP_016879138.1
XM_017023650.1 611 Intron XP_016879139.1
XM_017023651.1 611 Intron XP_016879140.1

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