| 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.672A>G | | NT_007933.14:g.59269224A>G |
| |
SNP Details are organized in the following sections:
The submission ss3301647 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2257307 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 |
|---|
| ss3301647 | TSC-CSHL|TSC1460931 |  | fwd/T | A/G | gcatctttctgcccctagggccaagccaga | gacccttccctgctggaggatcccaagatt | 09/20/01 | 10/10/03 | 103 | Genomic | | | unknown | | ss3302021 | TSC-CSHL|TSC1461624 | | fwd/T | A/G | gcatctttctgcccctagggccaaacctga | gacccttccctgctggaggatcccaagatt | 09/20/01 | 10/10/03 | 100 | Genomic | | | unknown | | ss3446112 | SC_JCM|AC055757.12_40519 | | rev/B | C/T | aatcttgggatcctccagcagggaagggtc | tcaggtttggccctaggggcagaaagatgc | 09/24/01 | 10/10/03 | 100 | Genomic | | | unknown |
>gnl|dbSNP|rs2257307|allelePos=490|totalLen=990|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=103 CCAAGGGCAT CACCGTTACG GCCTACAGCC CCCTGGGCTC TCCGGATAGA CCTTGGTGAG
GCTTCCAAGT GGTGGGTCTT TCTCTTGATA ATCTTAAAAA CATTATTTTA TAATTGGTAA
ATGTTGGTAT GGGTCCATAA GTTACTGGAA AGAAAAATGT GTGTAAGGTA ACACGTTTGG
TACACACAAA TGGGATGGCA GTGGGAAAAA ATGGGAATTA AACAACAACA ACAACACCAA
GGGCGACATG CTTGACCCTC TGGGAATATT TCCAGTTCAG CCACCCAAGG GTGAACCAGG
CTTTGCAAAA TGCTGAGGCT TCAGAGCCCG GGGAAAGGAC CCAAGCTTCC AGGTCCTCCT
GCCTGTCTCC CAGATGGAGA GGCTCTGATG ATCAGTCTTG AGACCCTCAT TGGAGTGGTG
TCCTTCTGTA CATGGTAGCC ATGGTGATTA TTCACATCAG CATCTTTCTG CCCCTAGGGC
CAAGCCAGA
R
GACCCTTCCC TGCTGGAGGA TCCCAAGATT AAGGAGATTG CTGCAAAGCA CAAAAAAACC
GCAGCCCAGG TGCCATATTT TTATTTTTCT TGTTATCCAA CAACTCATTC TTCCAGTCTC
GTGTTTCATA TCCTGTGTTG TCCTCAACAA ACTCCTTAAA GGGGAAGAAT ATAGGAGCTG
AAGCCCTCTA AAGTGTTTCC TTTGAAGTCT GTTGGAACCT CTAGGAAACA CAAGAGCTGT
CACTGAAGCA AAGATAGCTT CTGTCTCACA GCTTCCTGTC AAGCCCTACA GCCCAGTGGC
AAAGCATGGC TTTGGAGTCT AGGGATATGG GTGCAGATGC CAACTCTACC TCTGATCAGC
CTTATGACCC CCAAGCTACT TTCTTCATTC CTAAAAAAGG AAGATCACAG GGTTGTCTCT
AAGGTGAAGG GAGAGAAAGA GGTGGGGGTC TGGCACAAGT CTAATAGCTG TGAAGGGCTC
AGTAATTATT AGCGATTGTA
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 |
| 
