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項目名 項目の説明
HGVBase-ID

ID in HGCbase

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"

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

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

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