| RefSNP | | Organism: | human (Homo sapiens) | | Molecule Type: | Genomic | | Created/Updated in build: | 92/130 | | Map to Genome Build: | 36.3 |
| | Allele | | Variation Class: | SNP:
single nucleotide polymorphism | | RefSNP Alleles: | C/T | | Ancestral Allele: | C | | Clinical Association: | unknown |
| | HGVS Names | | NM_020299.3:c.9G>A | | NT_007933.14:g.59259552G>A |
| |
SNP Details are organized in the following sections:
The submission ss2921867 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2005412 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 |
|---|
| ss2921867 | TSC-CSHL|TSC0209893 |  | fwd/B | C/T | catcttggctttggtactgagctccacaaa | gtggccatggttggtgcagaaatgattctg | 01/02/01 | 10/10/03 | 92 | Genomic | | | unknown | | ss6086016 | SC_JCM|NT_007933.10_59254020 | | rev/T | A/G | cagaatcatttctgcaccaaccatggccac | tttgtggagctcagtaccaaagccaagatg | 01/10/03 | 10/10/03 | 111 | Genomic | | | unknown | | ss42944238 | ABI|hCV26503364 | | rev/T | A/G | cagaatcatttctgcaccaaccatggccac | tttgtggagctcagtaccaaagccaagatg | 07/18/05 | 07/18/05 | 126 | Genomic | | | unknown |
>gnl|dbSNP|rs2005412|allelePos=297|totalLen=883|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=126 CTGCTTGAAA TTTGATACTT GCTAGAGAAG CTCTCATCAC TGCTGGGAAA GCCAGCCTTG
GAGCTTTGCA GCCTGAATCA GCTCTGAGAA AAGAAAGCAA CCTAAGTCCT GGCTCCAGGG
CTGAATCTTA CCTCTCCAAC CCCTGCCCGA CCTCCAGGCT TTCCTGGCTG AATGCAGAAA
GAGAAAACAC CCAAACGCCC CTCCAGAGAA GAAGGGTGTG CAAAGATTTG CATATTTACC
TTCCAAGTGC CCAGGCCCAC AATGGGCATC TTGGCTTTGG TACTGAGCTC CACAAA
Y
GTGGCCATGG TTGGTGCAGA AATGATTCTG AGTGAGCAGG TAGAAGTCTC ACGTCCTGCT
CTCTGTTGCT Gtttttgaga cagtcttgca ctgttgccaa ggctagagtg cagtggtgcg
atctcagctc actacaacct ctgtctcctg ggttcaagca attctcctgc ctcagcctcc
cgagtagctg ggattacagg cgcccaccgt gactcccagc taatttttat attgttagta
gagacaggct ggtctcaaac tcctgagctc aggtgatccg cccacctcgg ccttccaaag
tgctgggatt acaggtgtga gctactgtgc ccggccACAG GCTGCTTAAG AAGGCTGCTG
CTATCTACAG TGGGAGGAGT TGGAGCCTGG CCACAGTAGC TTCCCTGCCA TACCAAACAG
GAATCCATTC CAGCTTTTGT GAGATTGAGG ATTCTGTGAA TGAATTATAA ACATGCCACC
TTGTGCAAAG TCTCTCTTAG TGACAGATTA TTGGAGTTTC TGCTTGTCAG GGTGAGTCAC
AAATCACCAA CCAAATTGAA GGTGGGAGGG GGACAGCAGG AAAAAA
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 |
| 
