Product Details

SNP ID
rs201802573
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:119834797 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCAGTGAAGGAGCCCTGCAGTGTTG[C/T]GTTTGGAATTGAACTTGGTTTGCTG
Phenotype
MIM: 613997
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
NBPF7 PubMed Links

Gene Details

Gene
NBPF7
Gene Name
neuroblastoma breakpoint family member 7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001047980.2 1579 Missense Mutation ACA,GCA T412A NP_001041445.1
XM_017001186.1 1579 Intron XP_016856675.1

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