| 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: | G/T | | Ancestral Allele: | Not available | | Clinical Association: | unknown |
| | HGVS Names | | NM_000550.1:c.259C>A | | NM_000550.2:c.259C>A | | NT_008413.17:g.12684255C>A |
| |
SNP Details are organized in the following sections:
The submission ss61717369 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs34509359 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 |
|---|
| ss48423879 | APPLERA_GI|hCV25605583 |   | fwd/B | G/T | tattgaagaagcgcaagggccagacctccc | atcatctctgccatcatggggatactgagg | 09/28/05 | 11/03/06 | 126 | Genomic | | | unknown | | ss61717369 | SI_EXO|NT_008413.16_12684255 | | rev/T | A/C | cctcagtatccccatgatggcagagatgat | gggaggtctggcccttgcgcttcttcaata | 07/11/06 | 08/17/06 | 127 | Genomic | | | unknown | | ss86344078 | CANCER-GENOME|9516 | | rev/T | A/C | cctcagtatccccatgatggcagagatgat | gggaggtctggcccttgcgcttcttcaata | 01/25/08 | 01/25/08 | 129 | Genomic | | | unknown | | ss86351950 | SALONSO|TYRP1-4827 | | rev/T | A/C | cctcagtatccccatgatggcagagatgat | gggaggtctggcccttgcgcttcttcaata | 01/29/08 | 01/29/08 | 129 | Genomic | | | unknown |
>gnl|dbSNP|rs34509359|allelePos=401|totalLen=801|taxid=9606|snpclass=1|alleles='G/T'|mol=Genomic|build=129 ACTAGTCATA ATACCTAACA CAGTTCCTAG GATATAGTGG TTGCTCAATA AATGTTTCAG
AATAAAATAT TGATCAGAAG TTCTGAGCTT CAACTCCAAC CCTTTACATT AAACAAGTTT
CTTAACCTTT CTAAGCCTCA GTTTCCTCAA CTATGAAAAG AGAGGGTTGA GCTATATGAT
TTCCAGGTAT TCCTCCAGCT CAAATGATTT AAGATTTTAT TAAGAGCCTT GAGTCTCATG
CAGGACTTAT GAACTCATTC ATATCTCCAC TTACCTATGA GAACCCTCTG GTCACAGGCA
GCTCCTCTCC AGCCAGGACG GCACGTCCCA CAGTTGTGTC CTGAGAAATT GCCGTTGCAG
TGACATGTCC TATTGAAGAA GCGCAAGGGC CAGACCTCCC
K
ATCATCTCTG CCATCATGGG GATACTGAGG GCTGTGGGGC CGGGAGTCTG CAGTCACTGC
CTCACATCTG CCCCTCCCTG ATGATGAGCC ACAGCGGTCT GTCCCAGGCC CAGACACAGG
GGACAGGTCT GGGCAACACA TACCACTTCT CAAAGCCTCA ACAGTGGCAC ACTGTCTTGG
GAATTGAGCC CGGGCCTGCT GAAAAAGTAG CAAGGGGAAG AAGATACAGC CCAGAGAGAG
GAGTTTAGGA GCACTCATTC TGCTTGAAAT AAGAGTGCAA AACAAAGACC TGGTTTGCAG
CTCTTTGTGT AGAGAAGACT GAAGCACGTA GAGGAAAATC CAGCTGAAAA AGAGAAAGTA
AAATGAGATT ATGCAAGTTT TTCTTGGTAC TTAAAATGGT
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.
| Summary | Average
Het.+/- std err: | Individual
Count | Founders
Count | Individual
Overlap | Genotype
Conflict |
|---|
| 0.074+/-0.178 | 39 | 39 | 0 | 0 |
| Validation status | Marker displays
Mendelian segregation | PCR results confirmed
in multiple reactions | Homozygotes detected
in individual genotype data |  | UNKNOWN | UNKNOWN | UNKNOWN |
| 
