dbSNP Short Genetic Variations
Welcome to the Reference SNP (rs) Report
All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.
Reference SNP (rs) Report
This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.
rs1466453290
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr9:94760185 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
- Alleles
- A>G
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
G=0.000004 (1/264690, TOPMED)G=0.000004 (1/251434, GnomAD_exome)G=0.00000 (0/14050, ALFA)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- AOPEP : Synonymous Variant
- Publications
- 0 citations
- Genomic View
- See rs on genome
ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.
Release Version: 20231103111315
| Population | Group | Sample Size | Ref Allele | Alt Allele | Ref HMOZ | Alt HMOZ | HTRZ | HWEP |
|---|---|---|---|---|---|---|---|---|
| Total | Global | 14050 | A=1.00000 | G=0.00000 | 1.0 | 0.0 | 0.0 | N/A |
| European | Sub | 9690 | A=1.0000 | G=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| African | Sub | 2898 | A=1.0000 | G=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| African Others | Sub | 114 | A=1.000 | G=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| African American | Sub | 2784 | A=1.0000 | G=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| Asian | Sub | 112 | A=1.000 | G=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| East Asian | Sub | 86 | A=1.00 | G=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Other Asian | Sub | 26 | A=1.00 | G=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 1 | Sub | 146 | A=1.000 | G=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 2 | Sub | 610 | A=1.000 | G=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| South Asian | Sub | 98 | A=1.00 | G=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Other | Sub | 496 | A=1.000 | G=0.000 | 1.0 | 0.0 | 0.0 | N/A |
Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").
Download| Study | Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| TopMed | Global | Study-wide | 264690 | A=0.999996 | G=0.000004 |
| gnomAD - Exomes | Global | Study-wide | 251434 | A=0.999996 | G=0.000004 |
| gnomAD - Exomes | European | Sub | 135362 | A=0.999993 | G=0.000007 |
| gnomAD - Exomes | Asian | Sub | 49010 | A=1.00000 | G=0.00000 |
| gnomAD - Exomes | American | Sub | 34592 | A=1.00000 | G=0.00000 |
| gnomAD - Exomes | African | Sub | 16256 | A=1.00000 | G=0.00000 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 10080 | A=1.00000 | G=0.00000 |
| gnomAD - Exomes | Other | Sub | 6134 | A=1.0000 | G=0.0000 |
| Allele Frequency Aggregator | Total | Global | 14050 | A=1.00000 | G=0.00000 |
| Allele Frequency Aggregator | European | Sub | 9690 | A=1.0000 | G=0.0000 |
| Allele Frequency Aggregator | African | Sub | 2898 | A=1.0000 | G=0.0000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 610 | A=1.000 | G=0.000 |
| Allele Frequency Aggregator | Other | Sub | 496 | A=1.000 | G=0.000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 146 | A=1.000 | G=0.000 |
| Allele Frequency Aggregator | Asian | Sub | 112 | A=1.000 | G=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 98 | A=1.00 | G=0.00 |
Help
Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.
Genomic Placements
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr 9 | NC_000009.12:g.94760185A>G |
| GRCh37.p13 chr 9 | NC_000009.11:g.97522467A>G |
| AOPEP RefSeqGene | NG_027833.1:g.38517A>G |
Gene: AOPEP, aminopeptidase O (putative)
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| AOPEP transcript variant 5 |
NM_001386061.1:c.-29-3258… NM_001386061.1:c.-29-32580A>G |
N/A | Intron Variant |
| AOPEP transcript variant 15 |
NM_001386073.1:c.-73-1281… NM_001386073.1:c.-73-12817A>G |
N/A | Intron Variant |
| AOPEP transcript variant 4 | NM_001193331.3:c.402A>G | T [ACA] > T [ACG] | Coding Sequence Variant |
| aminopeptidase O isoform 4 | NP_001180260.1:p.Thr134= | T (Thr) > T (Thr) | Synonymous Variant |
| AOPEP transcript variant 8 | NM_001386066.1:c.402A>G | T [ACA] > T [ACG] | Coding Sequence Variant |
| aminopeptidase O isoform 3 | NP_001372995.1:p.Thr134= | T (Thr) > T (Thr) | Synonymous Variant |
| AOPEP transcript variant 7 | NM_001386063.2:c.402A>G | T [ACA] > T [ACG] | Coding Sequence Variant |
| aminopeptidase O isoform 7 | NP_001372992.1:p.Thr134= | T (Thr) > T (Thr) | Synonymous Variant |
| AOPEP transcript variant 18 | NM_001386076.1:c.402A>G | T [ACA] > T [ACG] | Coding Sequence Variant |
| aminopeptidase O isoform 14 | NP_001373005.1:p.Thr134= | T (Thr) > T (Thr) | Synonymous Variant |
| AOPEP transcript variant 10 | NM_001386068.1:c.402A>G | T [ACA] > T [ACG] | Coding Sequence Variant |
| aminopeptidase O isoform 3 | NP_001372997.1:p.Thr134= | T (Thr) > T (Thr) | Synonymous Variant |
| AOPEP transcript variant 14 | NM_001386072.1:c.402A>G | T [ACA] > T [ACG] | Coding Sequence Variant |
| aminopeptidase O isoform 11 | NP_001373001.1:p.Thr134= | T (Thr) > T (Thr) | Synonymous Variant |
| AOPEP transcript variant 6 | NM_001386062.2:c.402A>G | T [ACA] > T [ACG] | Coding Sequence Variant |
| aminopeptidase O isoform 6 | NP_001372991.1:p.Thr134= | T (Thr) > T (Thr) | Synonymous Variant |
| AOPEP transcript variant 1 | NM_001193329.3:c.402A>G | T [ACA] > T [ACG] | Coding Sequence Variant |
| aminopeptidase O isoform 1 | NP_001180258.1:p.Thr134= | T (Thr) > T (Thr) | Synonymous Variant |
| AOPEP transcript variant 17 | NM_001386075.1:c.402A>G | T [ACA] > T [ACG] | Coding Sequence Variant |
| aminopeptidase O isoform 1 | NP_001373004.1:p.Thr134= | T (Thr) > T (Thr) | Synonymous Variant |
| AOPEP transcript variant 12 | NM_001386070.1:c.402A>G | T [ACA] > T [ACG] | Coding Sequence Variant |
| aminopeptidase O isoform 10 | NP_001372999.1:p.Thr134= | T (Thr) > T (Thr) | Synonymous Variant |
| AOPEP transcript variant 13 | NM_001386071.1:c.402A>G | T [ACA] > T [ACG] | Coding Sequence Variant |
| aminopeptidase O isoform 4 | NP_001373000.1:p.Thr134= | T (Thr) > T (Thr) | Synonymous Variant |
| AOPEP transcript variant 16 | NM_001386074.1:c.402A>G | T [ACA] > T [ACG] | Coding Sequence Variant |
| aminopeptidase O isoform 13 | NP_001373003.1:p.Thr134= | T (Thr) > T (Thr) | Synonymous Variant |
| AOPEP transcript variant 9 | NM_001386067.1:c.402A>G | T [ACA] > T [ACG] | Coding Sequence Variant |
| aminopeptidase O isoform 8 | NP_001372996.1:p.Thr134= | T (Thr) > T (Thr) | Synonymous Variant |
| AOPEP transcript variant 11 | NM_001386069.1:c.402A>G | T [ACA] > T [ACG] | Coding Sequence Variant |
| aminopeptidase O isoform 9 | NP_001372998.1:p.Thr134= | T (Thr) > T (Thr) | Synonymous Variant |
| AOPEP transcript variant 2 | NM_032823.6:c.402A>G | T [ACA] > T [ACG] | Coding Sequence Variant |
| aminopeptidase O isoform 2 | NP_116212.3:p.Thr134= | T (Thr) > T (Thr) | Synonymous Variant |
| AOPEP transcript variant 24 | NR_169864.1:n.590A>G | N/A | Non Coding Transcript Variant |
| AOPEP transcript variant 19 | NR_169862.1:n.590A>G | N/A | Non Coding Transcript Variant |
| AOPEP transcript variant 20 | NR_169863.2:n.590A>G | N/A | Non Coding Transcript Variant |
| AOPEP transcript variant 21 | NR_169865.1:n.590A>G | N/A | Non Coding Transcript Variant |
| AOPEP transcript variant 22 | NR_169866.1:n.590A>G | N/A | Non Coding Transcript Variant |
| AOPEP transcript variant 23 | NR_169867.1:n. | N/A | Genic Upstream Transcript Variant |
| AOPEP transcript variant X21 | XM_017015234.3:c.-323= | N/A | 5 Prime UTR Variant |
| AOPEP transcript variant X22 | XM_047423986.1:c.-323= | N/A | 5 Prime UTR Variant |
| AOPEP transcript variant X24 | XM_047423987.1:c.-323= | N/A | 5 Prime UTR Variant |
| AOPEP transcript variant X25 | XM_017015236.3:c.-323= | N/A | 5 Prime UTR Variant |
| AOPEP transcript variant X27 | XM_017015237.3:c.-323= | N/A | 5 Prime UTR Variant |
| AOPEP transcript variant X28 | XM_047423988.1:c.-323= | N/A | 5 Prime UTR Variant |
| AOPEP transcript variant X30 | XM_011519132.2:c. | N/A | Genic Upstream Transcript Variant |
| AOPEP transcript variant X1 | XM_047423978.1:c.402A>G | T [ACA] > T [ACG] | Coding Sequence Variant |
| aminopeptidase O isoform X1 | XP_047279934.1:p.Thr134= | T (Thr) > T (Thr) | Synonymous Variant |
| AOPEP transcript variant X2 | XM_011519121.4:c.402A>G | T [ACA] > T [ACG] | Coding Sequence Variant |
| aminopeptidase O isoform X2 | XP_011517423.1:p.Thr134= | T (Thr) > T (Thr) | Synonymous Variant |
| AOPEP transcript variant X5 | XM_047423979.1:c.402A>G | T [ACA] > T [ACG] | Coding Sequence Variant |
| aminopeptidase O isoform X3 | XP_047279935.1:p.Thr134= | T (Thr) > T (Thr) | Synonymous Variant |
| AOPEP transcript variant X6 | XM_047423980.1:c.402A>G | T [ACA] > T [ACG] | Coding Sequence Variant |
| aminopeptidase O isoform X4 | XP_047279936.1:p.Thr134= | T (Thr) > T (Thr) | Synonymous Variant |
| AOPEP transcript variant X7 | XM_047423981.1:c.402A>G | T [ACA] > T [ACG] | Coding Sequence Variant |
| aminopeptidase O isoform X4 | XP_047279937.1:p.Thr134= | T (Thr) > T (Thr) | Synonymous Variant |
| AOPEP transcript variant X9 | XM_047423982.1:c.402A>G | T [ACA] > T [ACG] | Coding Sequence Variant |
| aminopeptidase O isoform X4 | XP_047279938.1:p.Thr134= | T (Thr) > T (Thr) | Synonymous Variant |
| AOPEP transcript variant X10 | XM_047423983.1:c.402A>G | T [ACA] > T [ACG] | Coding Sequence Variant |
| aminopeptidase O isoform X4 | XP_047279939.1:p.Thr134= | T (Thr) > T (Thr) | Synonymous Variant |
| AOPEP transcript variant X12 | XM_047423984.1:c.402A>G | T [ACA] > T [ACG] | Coding Sequence Variant |
| aminopeptidase O isoform X5 | XP_047279940.1:p.Thr134= | T (Thr) > T (Thr) | Synonymous Variant |
| AOPEP transcript variant X13 | XM_017015231.3:c.402A>G | T [ACA] > T [ACG] | Coding Sequence Variant |
| aminopeptidase O isoform X6 | XP_016870720.1:p.Thr134= | T (Thr) > T (Thr) | Synonymous Variant |
| AOPEP transcript variant X14 | XM_011519122.4:c.402A>G | T [ACA] > T [ACG] | Coding Sequence Variant |
| aminopeptidase O isoform X7 | XP_011517424.1:p.Thr134= | T (Thr) > T (Thr) | Synonymous Variant |
| AOPEP transcript variant X15 | XM_017015232.3:c.402A>G | T [ACA] > T [ACG] | Coding Sequence Variant |
| aminopeptidase O isoform X8 | XP_016870721.1:p.Thr134= | T (Thr) > T (Thr) | Synonymous Variant |
| AOPEP transcript variant X17 | XM_011519123.4:c.402A>G | T [ACA] > T [ACG] | Coding Sequence Variant |
| aminopeptidase O isoform X9 | XP_011517425.1:p.Thr134= | T (Thr) > T (Thr) | Synonymous Variant |
| AOPEP transcript variant X18 | XM_011519127.3:c.402A>G | T [ACA] > T [ACG] | Coding Sequence Variant |
| aminopeptidase O isoform X10 | XP_011517429.1:p.Thr134= | T (Thr) > T (Thr) | Synonymous Variant |
| AOPEP transcript variant X19 | XM_047423985.1:c.402A>G | T [ACA] > T [ACG] | Coding Sequence Variant |
| aminopeptidase O isoform X11 | XP_047279941.1:p.Thr134= | T (Thr) > T (Thr) | Synonymous Variant |
| AOPEP transcript variant X29 | XM_011519130.3:c.402A>G | T [ACA] > T [ACG] | Coding Sequence Variant |
| aminopeptidase O isoform X14 | XP_011517432.1:p.Thr134= | T (Thr) > T (Thr) | Synonymous Variant |
| AOPEP transcript variant X26 | XM_011519134.4:c.402A>G | T [ACA] > T [ACG] | Coding Sequence Variant |
| aminopeptidase O isoform X16 | XP_011517436.1:p.Thr134= | T (Thr) > T (Thr) | Synonymous Variant |
| AOPEP transcript variant X3 | XR_929853.3:n.590A>G | N/A | Non Coding Transcript Variant |
| AOPEP transcript variant X4 | XR_929854.3:n.590A>G | N/A | Non Coding Transcript Variant |
| AOPEP transcript variant X8 | XR_007061363.1:n.590A>G | N/A | Non Coding Transcript Variant |
| AOPEP transcript variant X11 | XR_007061364.1:n.590A>G | N/A | Non Coding Transcript Variant |
| AOPEP transcript variant X16 | XR_929855.3:n.590A>G | N/A | Non Coding Transcript Variant |
| AOPEP transcript variant X20 | XR_929857.3:n.590A>G | N/A | Non Coding Transcript Variant |
| AOPEP transcript variant X23 | XR_007061365.1:n.590A>G | N/A | Non Coding Transcript Variant |
Help
Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.
Not Reported in ClinVar
Help
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".
| Placement | A= | G |
|---|---|---|
| GRCh38.p14 chr 9 | NC_000009.12:g.94760185= | NC_000009.12:g.94760185A>G |
| GRCh37.p13 chr 9 | NC_000009.11:g.97522467= | NC_000009.11:g.97522467A>G |
| AOPEP RefSeqGene | NG_027833.1:g.38517= | NG_027833.1:g.38517A>G |
| AOPEP transcript variant 2 | NM_032823.6:c.402= | NM_032823.6:c.402A>G |
| AOPEP transcript variant 2 | NM_032823.5:c.402= | NM_032823.5:c.402A>G |
| AOPEP transcript variant 4 | NM_001193331.3:c.402= | NM_001193331.3:c.402A>G |
| AOPEP transcript variant 4 | NM_001193331.2:c.402= | NM_001193331.2:c.402A>G |
| AOPEP transcript variant 1 | NM_001193329.3:c.402= | NM_001193329.3:c.402A>G |
| AOPEP transcript variant 1 | NM_001193329.2:c.402= | NM_001193329.2:c.402A>G |
| AOPEP transcript variant 1 | NM_001193329.1:c.402= | NM_001193329.1:c.402A>G |
| AOPEP transcript variant 7 | NM_001386063.2:c.402= | NM_001386063.2:c.402A>G |
| AOPEP transcript | NM_001386063.1:c.402= | NM_001386063.1:c.402A>G |
| AOPEP transcript variant 6 | NM_001386062.2:c.402= | NM_001386062.2:c.402A>G |
| AOPEP transcript | NM_001386062.1:c.402= | NM_001386062.1:c.402A>G |
| AOPEP transcript variant 20 | NR_169863.2:n.590= | NR_169863.2:n.590A>G |
| AOPEP transcript | NR_169863.1:n.590= | NR_169863.1:n.590A>G |
| AOPEP transcript variant 16 | NM_001386074.1:c.402= | NM_001386074.1:c.402A>G |
| AOPEP transcript variant 17 | NM_001386075.1:c.402= | NM_001386075.1:c.402A>G |
| AOPEP transcript variant 13 | NM_001386071.1:c.402= | NM_001386071.1:c.402A>G |
| AOPEP transcript variant 18 | NM_001386076.1:c.402= | NM_001386076.1:c.402A>G |
| AOPEP transcript variant 10 | NM_001386068.1:c.402= | NM_001386068.1:c.402A>G |
| AOPEP transcript variant 8 | NM_001386066.1:c.402= | NM_001386066.1:c.402A>G |
| AOPEP transcript variant 21 | NR_169865.1:n.590= | NR_169865.1:n.590A>G |
| AOPEP transcript variant 19 | NR_169862.1:n.590= | NR_169862.1:n.590A>G |
| AOPEP transcript variant 12 | NM_001386070.1:c.402= | NM_001386070.1:c.402A>G |
| AOPEP transcript variant 11 | NM_001386069.1:c.402= | NM_001386069.1:c.402A>G |
| AOPEP transcript variant 24 | NR_169864.1:n.590= | NR_169864.1:n.590A>G |
| AOPEP transcript variant 14 | NM_001386072.1:c.402= | NM_001386072.1:c.402A>G |
| AOPEP transcript variant 22 | NR_169866.1:n.590= | NR_169866.1:n.590A>G |
| AOPEP transcript variant 9 | NM_001386067.1:c.402= | NM_001386067.1:c.402A>G |
| AOPEP transcript variant X26 | XM_011519134.4:c.402= | XM_011519134.4:c.402A>G |
| AOPEP transcript variant X29 | XM_011519134.3:c.402= | XM_011519134.3:c.402A>G |
| C9orf3 transcript variant X29 | XM_011519134.2:c.402= | XM_011519134.2:c.402A>G |
| C9orf3 transcript variant X25 | XM_011519134.1:c.402= | XM_011519134.1:c.402A>G |
| AOPEP transcript variant X14 | XM_011519122.4:c.402= | XM_011519122.4:c.402A>G |
| AOPEP transcript variant X13 | XM_011519122.3:c.402= | XM_011519122.3:c.402A>G |
| C9orf3 transcript variant X13 | XM_011519122.2:c.402= | XM_011519122.2:c.402A>G |
| C9orf3 transcript variant X9 | XM_011519122.1:c.402= | XM_011519122.1:c.402A>G |
| AOPEP transcript variant X2 | XM_011519121.4:c.402= | XM_011519121.4:c.402A>G |
| AOPEP transcript variant X8 | XM_011519121.3:c.402= | XM_011519121.3:c.402A>G |
| C9orf3 transcript variant X8 | XM_011519121.2:c.402= | XM_011519121.2:c.402A>G |
| C9orf3 transcript variant X5 | XM_011519121.1:c.402= | XM_011519121.1:c.402A>G |
| AOPEP transcript variant X17 | XM_011519123.4:c.402= | XM_011519123.4:c.402A>G |
| AOPEP transcript variant X17 | XM_011519123.3:c.402= | XM_011519123.3:c.402A>G |
| C9orf3 transcript variant X17 | XM_011519123.2:c.402= | XM_011519123.2:c.402A>G |
| C9orf3 transcript variant X12 | XM_011519123.1:c.402= | XM_011519123.1:c.402A>G |
| AOPEP transcript variant X15 | XM_017015232.3:c.402= | XM_017015232.3:c.402A>G |
| AOPEP transcript variant X15 | XM_017015232.2:c.402= | XM_017015232.2:c.402A>G |
| C9orf3 transcript variant X15 | XM_017015232.1:c.402= | XM_017015232.1:c.402A>G |
| AOPEP transcript variant X4 | XR_929854.3:n.590= | XR_929854.3:n.590A>G |
| AOPEP transcript variant X10 | XR_929854.2:n.620= | XR_929854.2:n.620A>G |
| C9orf3 transcript variant X10 | XR_929854.1:n.685= | XR_929854.1:n.685A>G |
| AOPEP transcript variant X3 | XR_929853.3:n.590= | XR_929853.3:n.590A>G |
| AOPEP transcript variant X9 | XR_929853.2:n.620= | XR_929853.2:n.620A>G |
| C9orf3 transcript variant X9 | XR_929853.1:n.685= | XR_929853.1:n.685A>G |
| AOPEP transcript variant X13 | XM_017015231.3:c.402= | XM_017015231.3:c.402A>G |
| AOPEP transcript variant X12 | XM_017015231.2:c.402= | XM_017015231.2:c.402A>G |
| C9orf3 transcript variant X12 | XM_017015231.1:c.402= | XM_017015231.1:c.402A>G |
| AOPEP transcript variant X27 | XM_017015237.3:c.-323= | XM_017015237.3:c.-323A>G |
| AOPEP transcript variant X30 | XM_017015237.2:c.-323= | XM_017015237.2:c.-323A>G |
| C9orf3 transcript variant X30 | XM_017015237.1:c.-323= | XM_017015237.1:c.-323A>G |
| AOPEP transcript variant X16 | XR_929855.3:n.590= | XR_929855.3:n.590A>G |
| AOPEP transcript variant X16 | XR_929855.2:n.620= | XR_929855.2:n.620A>G |
| C9orf3 transcript variant X16 | XR_929855.1:n.685= | XR_929855.1:n.685A>G |
| AOPEP transcript variant X21 | XM_017015234.3:c.-323= | XM_017015234.3:c.-323A>G |
| AOPEP transcript variant X21 | XM_017015234.2:c.-323= | XM_017015234.2:c.-323A>G |
| C9orf3 transcript variant X21 | XM_017015234.1:c.-323= | XM_017015234.1:c.-323A>G |
| AOPEP transcript variant X25 | XM_017015236.3:c.-323= | XM_017015236.3:c.-323A>G |
| AOPEP transcript variant X28 | XM_017015236.2:c.-323= | XM_017015236.2:c.-323A>G |
| C9orf3 transcript variant X28 | XM_017015236.1:c.-323= | XM_017015236.1:c.-323A>G |
| AOPEP transcript variant X29 | XM_011519130.3:c.402= | XM_011519130.3:c.402A>G |
| AOPEP transcript variant X26 | XM_011519130.2:c.402= | XM_011519130.2:c.402A>G |
| C9orf3 transcript variant X26 | XM_011519130.1:c.402= | XM_011519130.1:c.402A>G |
| AOPEP transcript variant X18 | XM_011519127.3:c.402= | XM_011519127.3:c.402A>G |
| AOPEP transcript variant X18 | XM_011519127.2:c.402= | XM_011519127.2:c.402A>G |
| C9orf3 transcript variant X18 | XM_011519127.1:c.402= | XM_011519127.1:c.402A>G |
| AOPEP transcript variant X20 | XR_929857.3:n.590= | XR_929857.3:n.590A>G |
| AOPEP transcript variant X20 | XR_929857.2:n.620= | XR_929857.2:n.620A>G |
| C9orf3 transcript variant X20 | XR_929857.1:n.685= | XR_929857.1:n.685A>G |
| AOPEP transcript variant X23 | XR_007061365.1:n.590= | XR_007061365.1:n.590A>G |
| AOPEP transcript variant X6 | XM_047423980.1:c.402= | XM_047423980.1:c.402A>G |
| AOPEP transcript variant X28 | XM_047423988.1:c.-323= | XM_047423988.1:c.-323A>G |
| AOPEP transcript variant X19 | XM_047423985.1:c.402= | XM_047423985.1:c.402A>G |
| AOPEP transcript variant X11 | XR_007061364.1:n.590= | XR_007061364.1:n.590A>G |
| AOPEP transcript variant X24 | XM_047423987.1:c.-323= | XM_047423987.1:c.-323A>G |
| AOPEP transcript variant X8 | XR_007061363.1:n.590= | XR_007061363.1:n.590A>G |
| AOPEP transcript variant X22 | XM_047423986.1:c.-323= | XM_047423986.1:c.-323A>G |
| AOPEP transcript variant X1 | XM_047423978.1:c.402= | XM_047423978.1:c.402A>G |
| AOPEP transcript variant X5 | XM_047423979.1:c.402= | XM_047423979.1:c.402A>G |
| AOPEP transcript variant X9 | XM_047423982.1:c.402= | XM_047423982.1:c.402A>G |
| AOPEP transcript variant X12 | XM_047423984.1:c.402= | XM_047423984.1:c.402A>G |
| AOPEP transcript variant X10 | XM_047423983.1:c.402= | XM_047423983.1:c.402A>G |
| AOPEP transcript variant X7 | XM_047423981.1:c.402= | XM_047423981.1:c.402A>G |
| C9orf3 transcript variant 3 | NM_001193330.1:c.402= | NM_001193330.1:c.402A>G |
| aminopeptidase O isoform 2 | NP_116212.3:p.Thr134= | NP_116212.3:p.Thr134= |
| aminopeptidase O isoform 4 | NP_001180260.1:p.Thr134= | NP_001180260.1:p.Thr134= |
| aminopeptidase O isoform 1 | NP_001180258.1:p.Thr134= | NP_001180258.1:p.Thr134= |
| aminopeptidase O isoform 7 | NP_001372992.1:p.Thr134= | NP_001372992.1:p.Thr134= |
| aminopeptidase O isoform 6 | NP_001372991.1:p.Thr134= | NP_001372991.1:p.Thr134= |
| aminopeptidase O isoform 13 | NP_001373003.1:p.Thr134= | NP_001373003.1:p.Thr134= |
| aminopeptidase O isoform 1 | NP_001373004.1:p.Thr134= | NP_001373004.1:p.Thr134= |
| aminopeptidase O isoform 4 | NP_001373000.1:p.Thr134= | NP_001373000.1:p.Thr134= |
| aminopeptidase O isoform 14 | NP_001373005.1:p.Thr134= | NP_001373005.1:p.Thr134= |
| aminopeptidase O isoform 3 | NP_001372997.1:p.Thr134= | NP_001372997.1:p.Thr134= |
| aminopeptidase O isoform 3 | NP_001372995.1:p.Thr134= | NP_001372995.1:p.Thr134= |
| aminopeptidase O isoform 10 | NP_001372999.1:p.Thr134= | NP_001372999.1:p.Thr134= |
| aminopeptidase O isoform 9 | NP_001372998.1:p.Thr134= | NP_001372998.1:p.Thr134= |
| aminopeptidase O isoform 11 | NP_001373001.1:p.Thr134= | NP_001373001.1:p.Thr134= |
| aminopeptidase O isoform 8 | NP_001372996.1:p.Thr134= | NP_001372996.1:p.Thr134= |
| aminopeptidase O isoform X16 | XP_011517436.1:p.Thr134= | XP_011517436.1:p.Thr134= |
| aminopeptidase O isoform X7 | XP_011517424.1:p.Thr134= | XP_011517424.1:p.Thr134= |
| aminopeptidase O isoform X2 | XP_011517423.1:p.Thr134= | XP_011517423.1:p.Thr134= |
| aminopeptidase O isoform X9 | XP_011517425.1:p.Thr134= | XP_011517425.1:p.Thr134= |
| aminopeptidase O isoform X8 | XP_016870721.1:p.Thr134= | XP_016870721.1:p.Thr134= |
| aminopeptidase O isoform X6 | XP_016870720.1:p.Thr134= | XP_016870720.1:p.Thr134= |
| aminopeptidase O isoform X14 | XP_011517432.1:p.Thr134= | XP_011517432.1:p.Thr134= |
| aminopeptidase O isoform X10 | XP_011517429.1:p.Thr134= | XP_011517429.1:p.Thr134= |
| aminopeptidase O isoform X4 | XP_047279936.1:p.Thr134= | XP_047279936.1:p.Thr134= |
| aminopeptidase O isoform X11 | XP_047279941.1:p.Thr134= | XP_047279941.1:p.Thr134= |
| aminopeptidase O isoform X1 | XP_047279934.1:p.Thr134= | XP_047279934.1:p.Thr134= |
| aminopeptidase O isoform X3 | XP_047279935.1:p.Thr134= | XP_047279935.1:p.Thr134= |
| aminopeptidase O isoform X4 | XP_047279938.1:p.Thr134= | XP_047279938.1:p.Thr134= |
| aminopeptidase O isoform X5 | XP_047279940.1:p.Thr134= | XP_047279940.1:p.Thr134= |
| aminopeptidase O isoform X4 | XP_047279939.1:p.Thr134= | XP_047279939.1:p.Thr134= |
| aminopeptidase O isoform X4 | XP_047279937.1:p.Thr134= | XP_047279937.1:p.Thr134= |
| AOPEP transcript variant 5 | NM_001386061.1:c.-29-32580= | NM_001386061.1:c.-29-32580A>G |
| AOPEP transcript variant 15 | NM_001386073.1:c.-73-12817= | NM_001386073.1:c.-73-12817A>G |
Help
Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.
2 SubSNP,
3 Frequency
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | GNOMAD | ss2737721984 | Nov 08, 2017 (151) |
| 2 | TOPMED | ss4828471079 | Apr 26, 2021 (155) |
| 3 | gnomAD - Exomes | NC_000009.11 - 97522467 | Jul 13, 2019 (153) |
| 4 | TopMed | NC_000009.12 - 94760185 | Apr 26, 2021 (155) |
| 5 | ALFA | NC_000009.12 - 94760185 | Apr 26, 2021 (155) |
Help
History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
No publications for rs1466453290
Help
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genome context:
Select flank length:
Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.