| RefSNP | | Organism: | human (Homo sapiens) | | Molecule Type: | Genomic | | Created/Updated in build: | 127/130 | | Map to Genome Build: | 36.3 |
| | Allele | | Variation Class: | SNP:
single nucleotide polymorphism | | RefSNP Alleles: | A/T | | Ancestral Allele: | Not available | | Clinical Association: | unknown |
| | HGVS Names | | NM_000015.2:c.70T>A | | NP_000006.2:p.Leu24Ile | | NT_030737.9:g.6102511T>A |
| |
SNP Details are organized in the following sections:
The submission ss70456611 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs45477599 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 |
|---|
| ss70456611 | EGP_SNPS|NAT2-010140 |  | fwd/ | A/T | aactctaggaacaaattggacttggaaaca | taactgacattcttgagcaccagatccggg | 04/19/07 | 04/19/07 | 127 | Genomic | | | unknown |
>gnl|dbSNP|rs45477599|allelePos=256|totalLen=511|taxid=9606|snpclass=1|alleles='A/T'|mol=Genomic|build=127 GAACTTATGC ATGTAAAAGG GATTCATGCA GTAGAAATAC TAACAAAAGA ATTACTATGA
CAGATACTTA TAACCATTGT GTTTTTACGT ATTTAAAATA CGTTATACCT ATAATTAGTC
ACACGAGGAA ATCAAATGCT AAAGTATGAT ATGTTTTTAT GTTTTGTTTT TCTTGCTTAG
GGGATCATGG ACATTGAAGC ATATTTTGAA AGAATTGGCT ATAAGAACTC TAGGAACAAA
TTGGACTTGG AAACA
W
TAACTGACAT TCTTGAGCAC CAGATCCGGG CTGTTCCCTT TGAGAACCTT AACATGCATT
GTGGGCAAGC CATGGAGTTG GGCTTAGAGG CTATTTTTGA TCACATTGTA AGAAGAAACC
GGGGTGGGTG GTGTCTCCAG GTCAATCAAC TTCTGTACTG GGCTCTGACC ACAATCGGTT
TTCAGACCAC AATGTTAGGA GGGTATTTTT ACATCCCTCC AGTTAACAAA TACAGCACTG
GCATGGTTCA CCTTC
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 | Genotypes | Alleles |
|---|
| ss# | Population | Individual
Group | Chrom.
Sample Cnt.
| Source | HWP | A
 | T
 |
|---|
| ss70456611 | PDR90-PANEL | | 176 | AF | | 0.006 | 0.994 | | | | | | | | | |
| Summary | Average
Het.+/- std err: | Individual
Count | Founders
Count | Individual
Overlap | Genotype
Conflict |
|---|
| 0.011+/-0.074 | 0 | 0 | 0 | 0 |
| Validation status | Marker displays
Mendelian segregation | PCR results confirmed
in multiple reactions | Homozygotes detected
in individual genotype data | | UNKNOWN | UNKNOWN | YES |
| 
