| 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: | C/T | | Ancestral Allele: | Not available | | Clinical Association: | unknown |
| | HGVS Names | | NM_001002000.1:c.725G>A | | NM_001002001.1:c.725G>A | | NM_001002002.1:c.725G>A | | NM_016576.3:c.779G>A | | NP_001002000.1:p.Gly242Asp | | NP_001002001.1:p.Gly242Asp | | NP_001002002.1:p.Gly242Asp | | NP_057660.2:p.Gly260Asp | | NT_026437.11:g.5707319G>A |
| |
SNP Details are organized in the following sections:
The submission ss69382094 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs34354104 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 |
|---|
| ss48403819 | APPLERA_GI|hCV25623257 |   | fwd/B | C/T | cctgactcactgtgcccagccagcatgcca | ccagcatcacgaagtcagctcctgcccctg | 09/28/05 | 11/03/06 | 126 | Genomic | | | unknown | | ss69151244 | PERLEGEN|PGP17792898 | | rev/T | A/G | caggggcaggagctgacttcgtgatgctgg | tggcatgctggctgggcacagtgagtcagg | 01/30/07 | 03/31/08 | 127 | Genomic | | | unknown | | ss69382094 | SI_EXO|NT_026437.11_5707319 | | rev/T | A/G | caggggcaggagctgacttcgtgatgctgg | tggcatgctggctgggcacagtgagtcagg | 04/12/07 | 04/12/07 | 127 | Genomic | | | unknown | | ss75274651 | ILLUMINA|ILMN_Human_1M_rs34354104 | | fwd/B | C/T | cctgactcactgtgcccagccagcatgcca | ccagcatcacgaagtcagctcctgcccctg | 08/28/07 | 08/29/07 | 129 | Genomic | | | unknown |
>gnl|dbSNP|rs34354104|allelePos=401|totalLen=801|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=129 AGAGCGGATC CCTCCTAGGA TGTCTCGGAT GGTATGTTCC ACATCTCCTT TAAAAGGAAC
TTCCACTGTC TTTCCCTCTG AGGCTCTTAA AGTAGGAAAA ACTTTATTAT CTTCTCCTTC
TGGATTCCTT AAGCCCAGGG ACTTTTCCAC AGACCCTAGC ATTGAGCCCC GGTTCACCAT
GCTTCTCTGA GAACTGTACC ATCCCCCTCT CAGCAGCCAT GAGTTCTGCC TCCATACTAT
TACTAAGCTC CTGGGCCTCC ACACATACCT GTACTCAGCC ACGCCCCCAG CATACTTCTT
CATGGCCATT TCAGAACTCA TTCCATAGAA GAGCTTGTAC TTCTTGCCAT CCCTCTCGAT
GAGCTCACCA CCTGACTCAC TGTGCCCAGC CAGCATGCCA
Y
CCAGCATCAC GAAGTCAGCT CCTGCCCCTG CCACCATCAT GGAGGGGGGA AAGAGATTAA
TCTGGCCAAG GTGCTCACAT GGCCACCCTC AAAAGCAACT CACACCATAT TCTCAGTCCT
GACAATGATT CCAGCGTCTT CCTCCTTCTG CTTCCCTAGC TGACCCACAA TCCACGCAGG
CCTGATCTGC CCTGGCCTCT ATTCCTCAGT GGGTATGATT TCCCCAAGAT TTAAAAAAGA
GCCTCTGGAG AGTCCCTGCC TGGCTTTTGC TTTCTCCTTT TGCTGTTTTT ACCATCATCG
TCTGGTCATT TGATTTTACT GTGCCCAGCT AAATAAGACT CATTTCATGT GTCCCAAGAG
CAAAGATCCC CAACTTTAAT GGGAGTAATG ATCTCCTGGG
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 |
|---|
| 0.024+/-0.107 | 547 | 428 | 0 | 0 |
| Validation status | Marker displays
Mendelian segregation | PCR results confirmed
in multiple reactions | Homozygotes detected
in individual genotype data |  | UNKNOWN | UNKNOWN | UNKNOWN |
| 
