| 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_000550.1:c.1500G>A | | NM_000550.2:c.1500G>A | | NT_008413.17:g.12699068G>A |
| |
SNP Details are organized in the following sections:
The submission ss61711428 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs34060600 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 |
|---|
| ss48423876 | APPLERA_GI|hCV25605546 |   | fwd/B | C/T | agcttcatccatactgcgtctggcacgaat | agataagaagcagtcccaaaaatgagtgca | 09/28/05 | 11/03/06 | 126 | Genomic | | | unknown | | ss61711428 | SI_EXO|NT_008413.16_12699068 | | rev/T | A/G | tgcactcatttttgggactgcttcttatct | attcgtgccagacgcagtatggatgaagct | 07/11/06 | 07/11/06 | 127 | Genomic | | | unknown |
>gnl|dbSNP|rs34060600|allelePos=401|totalLen=801|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=127 CACATACTCA ACCTTTAAAT CATGCCAAAG ATCTTCACAC TATCCTTAAA TATCATGGAG
TTTAGTGTCA TTCACCATTT TAAATAGAAC TGAAAATTAA AACCCATTGA AAAGATTCTG
AAAGGGTCTT CCCAGCTTTG AAAAGTATGC CTAGAACTTT AATGCTAACA TATGCTTGTA
TTAGAAAGAA GGTAATAAAG TGAAAGAAAA TACAGTTAAT AACTCAATCT ATTATATTCA
ACCAGGTGGT TTTGTGATAC TAATGCATAA GAGAGTAGGG CATTTGTTAG ACCACAGACT
GATTAGGATT CTGGAGTTTT TCATATTCTT CAGCATAGCA TTGATACTGA TCAGTGAGGA
GAGGCTGGTT AGCTTCATCC ATACTGCGTC TGGCACGAAT
Y
AGATAAGAAG CAGTCCCAAA AATGAGTGCA ACCAGTAACA AAGCGCCAAC TACTGCTATG
GCAATTATCT CAGGTACACT AAACTCCCGA CCTATTTGGA AAGGAAGATA AAAATAAAAA
GACAAATATT AAAATAGTTA TCACCAAAAA GTGGACAGAT GAAATTTAGA AATGTCTATT
TTAACAGAAA TCCTCATATT TAATTTACAT TGGCCACATG GCCTTGAAGC CACTTCCTGA
TTTCTTTTAA TGAGTGGACC CTATTGGGAT AGTCATTGTT ATTTCCATTT CATTTTGTGA
AAGTGAGAGA ATGATGACTC AATGAGTCTG AGTCACTTAC CCAGGTCACT TGGTTGGTAA
GCAATAAAGT TGGCTTTGGA GCCCGGATAT TTTAGAATAT
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 |
|---|
| 0.080+/-0.183 | 37 | 37 | 0 | 0 |
| Validation status | Marker displays
Mendelian segregation | PCR results confirmed
in multiple reactions | Homozygotes detected
in individual genotype data |  | UNKNOWN | UNKNOWN | UNKNOWN |
| 
