| RefSNP | | Organism: | human (Homo sapiens) | | Molecule Type: | Genomic | | Created/Updated in build: | 126/130 | | Map to Genome Build: | 36.3 |
| | Allele | | Variation Class: | SNP:
single nucleotide polymorphism | | RefSNP Alleles: | C/T | | Ancestral Allele: | Not available | | Clinical Association: | unknown |
| | HGVS Names | | NM_001039567.2:c.-55C>T | | NT_011875.11:g.9018805C>T |
| |
SNP Details are organized in the following sections:
The submission ss50392528 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs35474563 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 |
|---|
| ss50392528 | PAGE|S00057 |  | fwd/B | C/T | actcatttgacttcccgctgtttatcaccg | agattacggttgcaccgtaaaaggagaggt | 01/25/06 | 01/25/06 | 126 | Genomic | | | unknown | | ss74968328 | ILLUMINA|ILMN_Human_1M_rs35474563 | | fwd/B | C/T | actcatttgacttcccgctgtttatcaccg | agattacggttgcaccgtaaaaggagaggt | 08/28/07 | 08/29/07 | 129 | Genomic | | | unknown |
>gnl|dbSNP|rs35474563|allelePos=562|totalLen=859|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=129 TGGAGGTTTT AGGGACATGC ACAGAGTTGT GCAACCATCA CCTCAAGTTA ATGCAAAACA
AGGTATTGAA CTTACAATTC ACGTCCCATA AAACCTACCC TTTCAAAGTT GACAATACAG
ACGATTTTAA TACATTCTCA AACCTGTGAA ATTGGCCCTA ATTCAGAAAA ACGAATTGTT
TCTTAAATCA TGATTTTACA ATACAACATG TCACAGTCAC AAGGAATCAT ACAGGTTATT
TCTTAACGAT TGGCTTTTTT TTTTTTAAGG CGGCTAAATC CTGCTCCTTC AGAGCTTCTG
TTAAATATTT TTAAAGTTGG CGAAAGATAA TTTTTAGAGT GTAAACTGCG TCCTCCCAGC
TTAGCCGACC TGAGGGGAGG AAGCACAACA AAAAGTCCCG TGGCATAACT GACACCTATG
AATCAGTATC AGAAACTGAA TATGCTAAGA AACTCAGTTC CGAGCTGTGA CCTCTACAAC
GGAAGAATAA TAGGTTGGTT ACCCGAGGCG GAATCTGGAA CTGAAATTCT CACTCATTTG
ACTTCCCGCT GTTTATCACC G
Y
AGATTACGGT TGCACCGTAA AAGGAGAGGT TCTGTTCCGT CGCGGGATTT CGCCATGGTA
AGACGTCTGC GTCCTAGCTC CGGATTTATC TGCCTCCATC CTTTGAAGAA GGGCCTTCCA
TCTTGGCAAG CTTTTACTTT TCGGGTACCG CTGCTTGGCG GGTGGGAATG CTGCTGGTGC
TGCTTCAGGA AACCCGATTT GGAGAGCGGA GGTCTGAGAA GAGTGCGGCT GGGGGTTCCG
GGCTGGCCCT TGTGCTCGGC CTGGGCGCCG GTGGTGCTGT TGGCACGTGA GTCTTGT
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
 | HWP | C
| T
 |
|---|
| ss50392528 | PAGE-POP | Global | 41 | IG | 0.976 | 0.024 | 0.001 | 0.976 | 0.024 | | | | | | | | | | |
| Summary | Average
Het.+/- std err: | Individual
Count | Founders
Count | Individual
Overlap | Genotype
Conflict |
|---|
| 0.048+/-0.147 | 41 | 41 | 0 | 0 |
| Validation status | Marker displays
Mendelian segregation | PCR results confirmed
in multiple reactions | Homozygotes detected
in individual genotype data |  | UNKNOWN | UNKNOWN | UNKNOWN |
| 
