| RefSNP | | Organism: | human (Homo sapiens) | | Molecule Type: | Genomic | | Created/Updated in build: | 100/130 | | Map to Genome Build: | 36.3 |
| | Allele | | Variation Class: | SNP:
single nucleotide polymorphism | | RefSNP Alleles: | A/G | | Ancestral Allele: | Not available | | Clinical Association: | unknown |
| | HGVS Names | | NM_020299.3:c.666G>A | | NT_007933.14:g.59269218G>A |
| |
SNP Details are organized in the following sections:
The submission ss3301645 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2257306 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 |
|---|
| ss3301645 | TSC-CSHL|TSC1460929 |  | fwd/T | A/G | acatcagcatctttctgcccctagggccaa | ccagaagacccttccctgctggaggatccc | 09/20/01 | 10/10/03 | 103 | Genomic | | | unknown | | ss3302019 | TSC-CSHL|TSC1461622 | | fwd/T | A/G | acatcagcatctttctgcccctagggccaa | cctgaggacccttccctgctggaggatccc | 09/20/01 | 10/10/03 | 100 | Genomic | | | unknown | | ss3446113 | SC_JCM|AC055757.12_40525 | | rev/B | C/T | gggatcctccagcagggaagggtcctcagg | ttggccctaggggcagaaagatgctgatgt | 09/24/01 | 10/10/03 | 100 | Genomic | | | unknown |
>gnl|dbSNP|rs2257306|allelePos=490|totalLen=990|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=103 GCCACTCCAA GGGCATCACC GTTACGGCCT ACAGCCCCCT GGGCTCTCCG GATAGACCTT
GGTGAGGCTT CCAAGTGGTG GGTCTTTCTC TTGATAATCT TAAAAACATT ATTTTATAAT
TGGTAAATGT TGGTATGGGT CCATAAGTTA CTGGAAAGAA AAATGTGTGT AAGGTAACAC
GTTTGGTACA CACAAATGGG ATGGCAGTGG GAAAAAATGG GAATTAAACA ACAACAACAA
CACCAAGGGC GACATGCTTG ACCCTCTGGG AATATTTCCA GTTCAGCCAC CCAAGGGTGA
ACCAGGCTTT GCAAAATGCT GAGGCTTCAG AGCCCGGGGA AAGGACCCAA GCTTCCAGGT
CCTCCTGCCT GTCTCCCAGA TGGAGAGGCT CTGATGATCA GTCTTGAGAC CCTCATTGGA
GTGGTGTCCT TCTGTACATG GTAGCCATGG TGATTATTCA CATCAGCATC TTTCTGCCCC
TAGGGCCAA
R
CCAGAAGACC CTTCCCTGCT GGAGGATCCC AAGATTAAGG AGATTGCTGC AAAGCACAAA
AAAACCGCAG CCCAGGTGCC ATATTTTTAT TTTTCTTGTT ATCCAACAAC TCATTCTTCC
AGTCTCGTGT TTCATATCCT GTGTTGTCCT CAACAAACTC CTTAAAGGGG AAGAATATAG
GAGCTGAAGC CCTCTAAAGT GTTTCCTTTG AAGTCTGTTG GAACCTCTAG GAAACACAAG
AGCTGTCACT GAAGCAAAGA TAGCTTCTGT CTCACAGCTT CCTGTCAAGC CCTACAGCCC
AGTGGCAAAG CATGGCTTTG GAGTCTAGGG ATATGGGTGC AGATGCCAAC TCTACCTCTG
ATCAGCCTTA TGACCCCCAA GCTACTTTCT TCATTCCTAA AAAAGGAAGA TCACAGGGTT
GTCTCTAAGG TGAAGGGAGA GAAAGAGGTG GGGGTCTGGC ACAAGTCTAA TAGCTGTGAA
GGGCTCAGTA ATTATTAGCG
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.
There is no frequency data.
| Validation status | Marker displays
Mendelian segregation | PCR results confirmed
in multiple reactions | Homozygotes detected
in individual genotype data | | UNKNOWN | UNKNOWN | UNKNOWN |
| 
