| RefSNP | | Organism: | human (Homo sapiens) | | Molecule Type: | Genomic | | Created/Updated in build: | 114/130 | | Map to Genome Build: | 36.3 |
| | Allele | | Variation Class: | SNP:
single nucleotide polymorphism | | RefSNP Alleles: | A/G | | Ancestral Allele: | G | | Clinical Association: | unknown |
| | HGVS Names | | NM_030642.1:c.109G>A | | NM_030642.1:c.241G>A | | NP_085145.1:p.Glu37Lys | | NP_085145.1:p.Glu81Lys | | NT_011520.11:g.15512871G>A |
| |
SNP Details are organized in the following sections:
The submission ss8295471 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs5999985 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 |
|---|
| ss8295471 | SC_SNP|NT_011520.8_15365915 |   | fwd/T | A/G | gctggtatgctgtcctactttctgtttgaa | agctgatgcgatgtgacaaagattccatgc | 04/17/03 | 03/31/08 | 114 | Genomic | | | unknown | | ss74818782 | AFFY|SNP_M-318618 | | fwd/T | A/G | gctggtatgctgtcctactttctgtttgaa | agctgatgcgatgtgacaaagattccatgc | 08/09/07 | 08/09/07 | 128 | Genomic | | | unknown | | ss86247317 | CORNELL|hCV25628442 | | fwd/T | A/G | gctggtatgctgtcctactttctgtttgaa | agctgatgcgatgtgacaaagattccatgc | 01/21/08 | 01/21/08 | 129 | Genomic | | | unknown |
>gnl|dbSNP|rs5999985|allelePos=401|totalLen=801|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=129 cagtctggtc cctaggcaag aagggggttt gtttctggga aagggctgtt atcatctttg
tttcaaagtt aaactataaa ctaagttctt cccaaagtta gttcagctta tgcccagaag
aatgaacgag aacagcttgg aggttagaag caagatgaag ccggttaggt cagacccctt
tcactgctgt aatttcccca ctgttagaat ttttgcaaag gtggtttcGA CATTGTACCT
CGATTCTCAG GGCTCTGCCT CCTGCACACA TTTTAGTGCT CAGATTGCCT AGATGTCTTT
AGCCTCACTC GTGAACCTGT GCCAGAGTTG GAAAATTAAC AATTTGATGT CAACTGTCCA
CAGTGATGAG GCTGGTATGC TGTCCTACTT TCTGTTTGAA
R
AGCTGATGCG ATGTGACAAA GATTCCATGC CAGATGGAAA TCTGTCAGAG GAGGAAAAAT
TGTTTCTCTC ATATTTTCCT TTGCACAAGT TTGAGCTAGA ACAGAACATC AAAGAACTTA
ACACCCTTGC GGACCAAGTT GACACCACTC ACGAGTTGCT TACCAAGACC AGCCTGGTGG
CCAGCTCTTC CGGGGCTGTT TCTGGGGTCA TGAACATCCT GGGTTTGGCC CTAGCACCTG
TGACAGCAGG AGGCAGTCTC ATGCTCTCAG CAACTGGGAC AGGGTTGGGG GCAGCAGCTG
CCATCACCAA CATAGTAACA AATGTCTTAG AAAATAGAAG CAATTCAGCA GCAAGAGACA
AAGCCAGCCG ACTGGGGCCT CTGACAACAT CACATGAGGC
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 |
|---|
| 0.053+/-0.154 | 525 | 409 | 0 | 0 |
| Validation status | Marker displays
Mendelian segregation | PCR results confirmed
in multiple reactions | Homozygotes detected
in individual genotype data |   | UNKNOWN | UNKNOWN | UNKNOWN |
| 
