| Data item | Description |
|---|
| JSNP ID |
JSNP ID |
| Chromosome |
Chromosome number |
| Location |
cytogenetic band |
| Evidence of Location |
information source of cytogenic band
- GenBank "/chromosome" and "/map"
- EntrezGene "CHR" and "MAP"
- UniGene "CHROMOSOME" and "CYTOBAND"
|
| In Gene |
Type of gene region
- promoter*1: Annotated in GenBank entries
- promoter*2: Predicted by GENSCAN
- promoter*3: Putative promoter (1.5kb upstream of the initiation position of mRNA records in the RefSeq)
- CDS*1: Annotated in GenBank entries either positively or passively
- CDS*2: Predicted by GENSCAN
- CDS*3: Extracted by homology search with cDNA
- exon*1: Annotated in GenBank entries either positively or passively
- exon*3: Extracted by homology search with mRNA/cDNA/Unigene records
- intron*1: Annotated in GenBank entries or intervened by Exon*1 and CDS*1
- intron*2: Intervened by CDS*2
- intron*3: Intervened by exon*3 and CDS*3
- others: surrounding regions of genes
|
| Type |
type of polymorphisms
- SNP: single nucleotide polymorphism
- IND: insertion/deletion
- MIC: microsatelite
|
| Frequencies |
minor allele frequencies in dbSNP, number in brackets means JSNP original allele frequency |
| allele |
allele observed |
| dbSNP ss# |
dbSNP ss (submitted SNP) number assigned |
| dbSNP rs# |
dbSNP rs (reference SNP) number assigned |
| HGVBase-ID |
ID in HGCbase |
| 5' assay |
5' flanking sequence |
| 3' assay |
3' flanking sequence |
| Mapping Accession |
accession No. of the mapped sequence |
| Mapping Position |
position of the polymorphism in the mapped sequence |
| Mapping Symbol |
gene name relevant to the mapped sequence |
| Mapping OMIM-ID |
OMIM ID relevant to the mapped sequence |
| Screened Accession |
accession No. of the sequence for polymorphism screening |
| Screened Position |
position of the polymorphism in the sequence for polymorphism screening |
| Screened Symbol |
gene name relevant to the sequence for polymorphism screening |
| Screened OMIM-ID |
OMIM ID relevant to the sequence for polymorphism screening |