| RefSNP | | Organism: | human (Homo sapiens) | | Molecule Type: | Genomic | | Created/Updated in build: | 124/130 | | Map to Genome Build: | 36.3 |
| | Allele | | Variation Class: | SNP:
single nucleotide polymorphism | | RefSNP Alleles: | C/T | | Ancestral Allele: | T | | Clinical Association: | unknown |
| | HGVS Names | | NG_008150.1:g.4522T>C | | NM_172002.3:c.218A>G | | NP_741999.3:p.Tyr73Cys | | NT_011520.11:g.8528870A>G |
| |
SNP Details are organized in the following sections:
The submission ss28531592 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs17886090 during BLAST analysis for the current build.
NCBI
Assay ID | Handle|Submitter ID | Validation
Status | ss to rs
Orientation
/Strand | Alleles | 5' Near Seq 30 bp | 3' Near Seq 30 bp | Entry
Date | Update
Date | Build
Added | Molecule
Type | Freq
Warning | Ancestral
Allele | Success
Rate |
|---|
| ss28531592 | EGP_SNPS|CHEK2-003764 |   | fwd/B | C/T | cgtcgctcgtaccagtccataaggctgaag | agtctcgagtggggtcaggtgcctgcagcg | 11/08/04 | 01/27/05 | 124 | Genomic | | | unknown | | ss74865111 | ILLUMINA|ILMN_Human_1M_rs17886090 | | fwd/B | C/T | cgtcgctcgtaccagtccataaggctgaag | agtctcgagtggggtcaggtgcctgcagcg | 08/28/07 | 08/29/07 | 129 | Genomic | | | unknown |
>gnl|dbSNP|rs17886090|allelePos=256|totalLen=511|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=129 CGCCCCTCCA GTCCCGTTCG TCTCCCTTCT CCACACCTCA ACGTTGCTTC CCTCAGTCCC
CGCCTCTCAA TTTCCTCCTG AGAAATCAAG ACACTTCTCT CACGCCTGCT CTCTAGACCT
CCGCCCCCCC ATCAGTCCCG CCTTCTCTTC CGCCAGCCAG ATCCGTCCTC CCCTCTCGCA
GGCCAGACCT CGACGTGTCT CTCGCCCGGG CCCGTTTCCC GAAACCGTCG CTCGTACCAG
TCCATAAGGC TGAAG
Y
AGTCTCGAGT GGGGTCAGGT GCCTGCAGCG CTCGGCACTG TGGGCAGAAG AACCTGTCCT
CCCGCCCGGG GCCCCATGGG CCGCCGCAGT TCCAACAGCG GGGATAATTG CTTCCCGCCT
GCGACGCAGC ATCGCAGCTT AGCGGTCTCC TTCTGGGAAC CCCTGTCGGC CAAAACCCCC
ACACCCGGAG CAAAGCCCCG GCTCTCCCCC GCCACATCTG GCCGGCGGCC TATCTAGCCG
TGGTCACTCG TGGGG
GeneView via analysis of contig annotation:
View more variation on this gene (click to hide).
| Assembly |
SNP to Chr |
Chr |
Chr position |
Contig |
Contig position |
Allele |
| Function |
mRNA |
Protein |
| mRNA to Chr |
Accession |
Position |
Allele change |
Accession |
Position |
Residue change |
on assembly: is labeled at position on chromosome .
GeneView via analysis of contig annotation: N/A.
GeneView via direct blast against RefSeq sequences (used when no gene model is available):
| Function |
Chr |
mRNA |
Protein |
| SNP to mRNA |
Accession |
Position |
Allele change |
Accession |
Position |
Residue change |
on assembly: is labeled at position on chromosome .
GeneView via direct blast against RefSeq sequences (used when no gene model is available): N/A
doesn't map to any assembly.
| | Sample Ascertainment | Genotype Detail | Alleles |
|---|
| ss# | Population | Individual
Group | Chrom.
Sample Cnt.
| Source | C/T
 | T/T
 | HWP | C
| T
 |
|---|
| ss28531592 | PDR90 | Global | 176 | IG | 0.023 | 0.977 | 1.000 | 0.011 | 0.989 | | | | | | | | | | |
| Summary | Average
Het.+/- std err: | Individual
Count | Founders
Count | Individual
Overlap | Genotype
Conflict |
|---|
| 0.022+/-0.104 | 90 | 90 | 0 | 0 |
| Validation status | Marker displays
Mendelian segregation | PCR results confirmed
in multiple reactions | Homozygotes detected
in individual genotype data |  | UNKNOWN | UNKNOWN | YES |
| 
