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.
rs1477731541
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr9:95005612-95005615 (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
- delA
- Variation Type
- Indel Insertion and Deletion
- Frequency
- delA=0.000004 (1/251158, GnomAD_exome)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- AOPEP : Frameshift Variant
- Publications
- 0 citations
- Genomic View
- See rs on genome
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 |
|---|---|---|---|---|---|
| gnomAD - Exomes | Global | Study-wide | 251158 | (A)4=0.999996 | delA=0.000004 |
| gnomAD - Exomes | European | Sub | 135194 | (A)4=0.999993 | delA=0.000007 |
| gnomAD - Exomes | Asian | Sub | 48988 | (A)4=1.00000 | delA=0.00000 |
| gnomAD - Exomes | American | Sub | 34576 | (A)4=1.00000 | delA=0.00000 |
| gnomAD - Exomes | African | Sub | 16212 | (A)4=1.00000 | delA=0.00000 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 10058 | (A)4=1.00000 | delA=0.00000 |
| gnomAD - Exomes | Other | Sub | 6130 | (A)4=1.0000 | delA=0.0000 |
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.
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr 9 | NC_000009.12:g.95005615del |
| GRCh37.p13 chr 9 | NC_000009.11:g.97767897del |
| AOPEP RefSeqGene | NG_027833.1:g.283947del |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| AOPEP transcript variant 7 |
NM_001386063.2:c.1977+261… NM_001386063.2:c.1977+26188del |
N/A | Intron Variant |
| AOPEP transcript variant 4 | NM_001193331.3:c. | N/A | Genic Downstream Transcript Variant |
| AOPEP transcript variant 13 | NM_001386071.1:c. | N/A | Genic Downstream Transcript Variant |
| AOPEP transcript variant 14 | NM_001386072.1:c. | N/A | Genic Downstream Transcript Variant |
| AOPEP transcript variant 15 | NM_001386073.1:c. | N/A | Genic Downstream Transcript Variant |
| AOPEP transcript variant 5 | NM_001386061.1:c.824del | K [AAG] > S [AG] | Coding Sequence Variant |
| aminopeptidase O isoform 5 | NP_001372990.1:p.Lys275fs | K (Lys) > S (Ser) | Frameshift Variant |
| AOPEP transcript variant 8 | NM_001386066.1:c.2114del | K [AAG] > S [AG] | Coding Sequence Variant |
| aminopeptidase O isoform 3 | NP_001372995.1:p.Lys705fs | K (Lys) > S (Ser) | Frameshift Variant |
| AOPEP transcript variant 18 | NM_001386076.1:c.2114del | K [AAG] > R [AG] | Coding Sequence Variant |
| aminopeptidase O isoform 14 | NP_001373005.1:p.Lys705fs | K (Lys) > R (Arg) | Frameshift Variant |
| AOPEP transcript variant 10 | NM_001386068.1:c.2114del | K [AAG] > S [AG] | Coding Sequence Variant |
| aminopeptidase O isoform 3 | NP_001372997.1:p.Lys705fs | K (Lys) > S (Ser) | Frameshift Variant |
| AOPEP transcript variant 6 | NM_001386062.2:c.1793del | K [AAG] > S [AG] | Coding Sequence Variant |
| aminopeptidase O isoform 6 | NP_001372991.1:p.Lys598fs | K (Lys) > S (Ser) | Frameshift Variant |
| AOPEP transcript variant 1 | NM_001193329.3:c.2114del | K [AAG] > S [AG] | Coding Sequence Variant |
| aminopeptidase O isoform 1 | NP_001180258.1:p.Lys705fs | K (Lys) > S (Ser) | Frameshift Variant |
| AOPEP transcript variant 17 | NM_001386075.1:c.2114del | K [AAG] > S [AG] | Coding Sequence Variant |
| aminopeptidase O isoform 1 | NP_001373004.1:p.Lys705fs | K (Lys) > S (Ser) | Frameshift Variant |
| AOPEP transcript variant 12 | NM_001386070.1:c.2114del | K [AAG] > R [AG] | Coding Sequence Variant |
| aminopeptidase O isoform 10 | NP_001372999.1:p.Lys705fs | K (Lys) > R (Arg) | Frameshift Variant |
| AOPEP transcript variant 16 | NM_001386074.1:c.2114del | K [AAG] > S [AG] | Coding Sequence Variant |
| aminopeptidase O isoform 13 | NP_001373003.1:p.Lys705fs | K (Lys) > S (Ser) | Frameshift Variant |
| AOPEP transcript variant 9 | NM_001386067.1:c.1592del | K [AAG] > S [AG] | Coding Sequence Variant |
| aminopeptidase O isoform 8 | NP_001372996.1:p.Lys531fs | K (Lys) > S (Ser) | Frameshift Variant |
| AOPEP transcript variant 11 | NM_001386069.1:c.1817del | K [AAG] > S [AG] | Coding Sequence Variant |
| aminopeptidase O isoform 9 | NP_001372998.1:p.Lys606fs | K (Lys) > S (Ser) | Frameshift Variant |
| AOPEP transcript variant 2 | NM_032823.6:c.1817del | K [AAG] > S [AG] | Coding Sequence Variant |
| aminopeptidase O isoform 2 | NP_116212.3:p.Lys606fs | K (Lys) > S (Ser) | Frameshift Variant |
| AOPEP transcript variant 24 | NR_169864.1:n.1961del | N/A | Non Coding Transcript Variant |
| AOPEP transcript variant 19 | NR_169862.1:n.2195del | N/A | Non Coding Transcript Variant |
| AOPEP transcript variant 20 | NR_169863.2:n.1961del | N/A | Non Coding Transcript Variant |
| AOPEP transcript variant 21 | NR_169865.1:n.2091del | N/A | Non Coding Transcript Variant |
| AOPEP transcript variant 22 | NR_169866.1:n.1794del | N/A | Non Coding Transcript Variant |
| AOPEP transcript variant 23 | NR_169867.1:n.727del | N/A | Non Coding Transcript Variant |
| AOPEP transcript variant X14 | XM_011519122.4:c. | N/A | Genic Downstream Transcript Variant |
| AOPEP transcript variant X18 | XM_011519127.3:c. | N/A | Genic Downstream Transcript Variant |
| AOPEP transcript variant X29 | XM_011519130.3:c. | N/A | Genic Downstream Transcript Variant |
| AOPEP transcript variant X26 | XM_011519134.4:c. | N/A | Genic Downstream Transcript Variant |
| AOPEP transcript variant X1 | XM_047423978.1:c.2114del | K [AAG] > S [AG] | Coding Sequence Variant |
| aminopeptidase O isoform X1 | XP_047279934.1:p.Lys705fs | K (Lys) > S (Ser) | Frameshift Variant |
| AOPEP transcript variant X2 | XM_011519121.4:c.2114del | K [AAG] > S [AG] | Coding Sequence Variant |
| aminopeptidase O isoform X2 | XP_011517423.1:p.Lys705fs | K (Lys) > S (Ser) | Frameshift Variant |
| AOPEP transcript variant X5 | XM_047423979.1:c.1817del | K [AAG] > S [AG] | Coding Sequence Variant |
| aminopeptidase O isoform X3 | XP_047279935.1:p.Lys606fs | K (Lys) > S (Ser) | Frameshift Variant |
| AOPEP transcript variant X12 | XM_047423984.1:c.1817del | K [AAG] > R [AG] | Coding Sequence Variant |
| aminopeptidase O isoform X5 | XP_047279940.1:p.Lys606fs | K (Lys) > R (Arg) | Frameshift Variant |
| AOPEP transcript variant X13 | XM_017015231.3:c.1817del | K [AAG] > S [AG] | Coding Sequence Variant |
| aminopeptidase O isoform X6 | XP_016870720.1:p.Lys606fs | K (Lys) > S (Ser) | Frameshift Variant |
| AOPEP transcript variant X15 | XM_017015232.3:c.2114del | K [AAG] > S [AG] | Coding Sequence Variant |
| aminopeptidase O isoform X8 | XP_016870721.1:p.Lys705fs | K (Lys) > S (Ser) | Frameshift Variant |
| AOPEP transcript variant X17 | XM_011519123.4:c.2114del | K [AAG] > S [AG] | Coding Sequence Variant |
| aminopeptidase O isoform X9 | XP_011517425.1:p.Lys705fs | K (Lys) > S (Ser) | Frameshift Variant |
| AOPEP transcript variant X19 | XM_047423985.1:c.1817del | K [AAG] > S [AG] | Coding Sequence Variant |
| aminopeptidase O isoform X11 | XP_047279941.1:p.Lys606fs | K (Lys) > S (Ser) | Frameshift Variant |
| AOPEP transcript variant X21 | XM_017015234.3:c.1223del | K [AAG] > S [AG] | Coding Sequence Variant |
| aminopeptidase O isoform X12 | XP_016870723.1:p.Lys408fs | K (Lys) > S (Ser) | Frameshift Variant |
| AOPEP transcript variant X22 | XM_047423986.1:c.1223del | K [AAG] > S [AG] | Coding Sequence Variant |
| aminopeptidase O isoform X12 | XP_047279942.1:p.Lys408fs | K (Lys) > S (Ser) | Frameshift Variant |
| AOPEP transcript variant X24 | XM_047423987.1:c.1223del | K [AAG] > S [AG] | Coding Sequence Variant |
| aminopeptidase O isoform X13 | XP_047279943.1:p.Lys408fs | K (Lys) > S (Ser) | Frameshift Variant |
| AOPEP transcript variant X30 | XM_011519132.2:c.974del | K [AAG] > S [AG] | Coding Sequence Variant |
| aminopeptidase O isoform X19 | XP_011517434.1:p.Lys325fs | K (Lys) > S (Ser) | Frameshift Variant |
| AOPEP transcript variant X25 | XM_017015236.3:c.926del | K [AAG] > S [AG] | Coding Sequence Variant |
| aminopeptidase O isoform X15 | XP_016870725.1:p.Lys309fs | K (Lys) > S (Ser) | Frameshift Variant |
| AOPEP transcript variant X27 | XM_017015237.3:c.926del | K [AAG] > S [AG] | Coding Sequence Variant |
| aminopeptidase O isoform X17 | XP_016870726.1:p.Lys309fs | K (Lys) > S (Ser) | Frameshift Variant |
| AOPEP transcript variant X28 | XM_047423988.1:c.1223del | K [AAG] > S [AG] | Coding Sequence Variant |
| aminopeptidase O isoform X18 | XP_047279944.1:p.Lys408fs | K (Lys) > S (Ser) | Frameshift Variant |
| AOPEP transcript variant X3 | XR_929853.3:n.2302del | N/A | Non Coding Transcript Variant |
| AOPEP transcript variant X4 | XR_929854.3:n.2302del | N/A | Non Coding Transcript Variant |
| AOPEP transcript variant X8 | XR_007061363.1:n.2465del | N/A | Non Coding Transcript Variant |
| AOPEP transcript variant X11 | XR_007061364.1:n.2302del | N/A | Non Coding Transcript Variant |
| AOPEP transcript variant X16 | XR_929855.3:n.2302del | N/A | Non Coding Transcript Variant |
| AOPEP transcript variant X23 | XR_007061365.1:n. | N/A | Genic Downstream Transcript Variant |
| AOPEP transcript variant X20 | XR_929857.3:n. | N/A | Genic Downstream Transcript Variant |
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.
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)4= | delA |
|---|---|---|
| GRCh38.p14 chr 9 | NC_000009.12:g.95005612_95005615= | NC_000009.12:g.95005615del |
| GRCh37.p13 chr 9 | NC_000009.11:g.97767894_97767897= | NC_000009.11:g.97767897del |
| AOPEP RefSeqGene | NG_027833.1:g.283944_283947= | NG_027833.1:g.283947del |
| AOPEP transcript variant 2 | NM_032823.6:c.1814_1817= | NM_032823.6:c.1817del |
| AOPEP transcript variant 2 | NM_032823.5:c.1814_1817= | NM_032823.5:c.1817del |
| AOPEP transcript variant 1 | NM_001193329.3:c.2111_2114= | NM_001193329.3:c.2114del |
| AOPEP transcript variant 1 | NM_001193329.2:c.2111_2114= | NM_001193329.2:c.2114del |
| AOPEP transcript variant 1 | NM_001193329.1:c.2111_2114= | NM_001193329.1:c.2114del |
| AOPEP transcript variant 6 | NM_001386062.2:c.1790_1793= | NM_001386062.2:c.1793del |
| AOPEP transcript | NM_001386062.1:c.1790_1793= | NM_001386062.1:c.1793del |
| AOPEP transcript variant 20 | NR_169863.2:n.1958_1961= | NR_169863.2:n.1961del |
| AOPEP transcript | NR_169863.1:n.1958_1961= | NR_169863.1:n.1961del |
| AOPEP transcript variant 16 | NM_001386074.1:c.2111_2114= | NM_001386074.1:c.2114del |
| AOPEP transcript variant 17 | NM_001386075.1:c.2111_2114= | NM_001386075.1:c.2114del |
| AOPEP transcript variant 18 | NM_001386076.1:c.2111_2114= | NM_001386076.1:c.2114del |
| AOPEP transcript variant 10 | NM_001386068.1:c.2111_2114= | NM_001386068.1:c.2114del |
| AOPEP transcript variant 8 | NM_001386066.1:c.2111_2114= | NM_001386066.1:c.2114del |
| AOPEP transcript variant 21 | NR_169865.1:n.2088_2091= | NR_169865.1:n.2091del |
| AOPEP transcript variant 19 | NR_169862.1:n.2192_2195= | NR_169862.1:n.2195del |
| AOPEP transcript variant 12 | NM_001386070.1:c.2111_2114= | NM_001386070.1:c.2114del |
| AOPEP transcript variant 23 | NR_169867.1:n.724_727= | NR_169867.1:n.727del |
| AOPEP transcript variant 11 | NM_001386069.1:c.1814_1817= | NM_001386069.1:c.1817del |
| AOPEP transcript variant 24 | NR_169864.1:n.1958_1961= | NR_169864.1:n.1961del |
| AOPEP transcript variant 22 | NR_169866.1:n.1791_1794= | NR_169866.1:n.1794del |
| AOPEP transcript variant 9 | NM_001386067.1:c.1589_1592= | NM_001386067.1:c.1592del |
| AOPEP transcript variant 5 | NM_001386061.1:c.821_824= | NM_001386061.1:c.824del |
| AOPEP transcript variant X2 | XM_011519121.4:c.2111_2114= | XM_011519121.4:c.2114del |
| AOPEP transcript variant X8 | XM_011519121.3:c.2111_2114= | XM_011519121.3:c.2114del |
| C9orf3 transcript variant X8 | XM_011519121.2:c.2111_2114= | XM_011519121.2:c.2114del |
| C9orf3 transcript variant X5 | XM_011519121.1:c.2111_2114= | XM_011519121.1:c.2114del |
| AOPEP transcript variant X17 | XM_011519123.4:c.2111_2114= | XM_011519123.4:c.2114del |
| AOPEP transcript variant X17 | XM_011519123.3:c.2111_2114= | XM_011519123.3:c.2114del |
| C9orf3 transcript variant X17 | XM_011519123.2:c.2111_2114= | XM_011519123.2:c.2114del |
| C9orf3 transcript variant X12 | XM_011519123.1:c.2111_2114= | XM_011519123.1:c.2114del |
| AOPEP transcript variant X15 | XM_017015232.3:c.2111_2114= | XM_017015232.3:c.2114del |
| AOPEP transcript variant X15 | XM_017015232.2:c.2111_2114= | XM_017015232.2:c.2114del |
| C9orf3 transcript variant X15 | XM_017015232.1:c.2111_2114= | XM_017015232.1:c.2114del |
| AOPEP transcript variant X4 | XR_929854.3:n.2299_2302= | XR_929854.3:n.2302del |
| AOPEP transcript variant X10 | XR_929854.2:n.2329_2332= | XR_929854.2:n.2332del |
| C9orf3 transcript variant X10 | XR_929854.1:n.2394_2397= | XR_929854.1:n.2397del |
| AOPEP transcript variant X3 | XR_929853.3:n.2299_2302= | XR_929853.3:n.2302del |
| AOPEP transcript variant X9 | XR_929853.2:n.2329_2332= | XR_929853.2:n.2332del |
| C9orf3 transcript variant X9 | XR_929853.1:n.2394_2397= | XR_929853.1:n.2397del |
| AOPEP transcript variant X13 | XM_017015231.3:c.1814_1817= | XM_017015231.3:c.1817del |
| AOPEP transcript variant X12 | XM_017015231.2:c.1814_1817= | XM_017015231.2:c.1817del |
| C9orf3 transcript variant X12 | XM_017015231.1:c.1814_1817= | XM_017015231.1:c.1817del |
| AOPEP transcript variant X27 | XM_017015237.3:c.923_926= | XM_017015237.3:c.926del |
| AOPEP transcript variant X30 | XM_017015237.2:c.923_926= | XM_017015237.2:c.926del |
| C9orf3 transcript variant X30 | XM_017015237.1:c.923_926= | XM_017015237.1:c.926del |
| AOPEP transcript variant X16 | XR_929855.3:n.2299_2302= | XR_929855.3:n.2302del |
| AOPEP transcript variant X16 | XR_929855.2:n.2329_2332= | XR_929855.2:n.2332del |
| C9orf3 transcript variant X16 | XR_929855.1:n.2394_2397= | XR_929855.1:n.2397del |
| AOPEP transcript variant X21 | XM_017015234.3:c.1220_1223= | XM_017015234.3:c.1223del |
| AOPEP transcript variant X21 | XM_017015234.2:c.1220_1223= | XM_017015234.2:c.1223del |
| C9orf3 transcript variant X21 | XM_017015234.1:c.1220_1223= | XM_017015234.1:c.1223del |
| AOPEP transcript variant X25 | XM_017015236.3:c.923_926= | XM_017015236.3:c.926del |
| AOPEP transcript variant X28 | XM_017015236.2:c.923_926= | XM_017015236.2:c.926del |
| C9orf3 transcript variant X28 | XM_017015236.1:c.923_926= | XM_017015236.1:c.926del |
| AOPEP transcript variant X30 | XM_011519132.2:c.971_974= | XM_011519132.2:c.974del |
| AOPEP transcript variant X27 | XM_011519132.1:c.971_974= | XM_011519132.1:c.974del |
| AOPEP transcript variant X6 | XM_047423980.1:c.2274_*3= | XM_047423980.1:c.*3del |
| AOPEP transcript variant X28 | XM_047423988.1:c.1220_1223= | XM_047423988.1:c.1223del |
| AOPEP transcript variant X19 | XM_047423985.1:c.1814_1817= | XM_047423985.1:c.1817del |
| AOPEP transcript variant X11 | XR_007061364.1:n.2299_2302= | XR_007061364.1:n.2302del |
| AOPEP transcript variant X24 | XM_047423987.1:c.1220_1223= | XM_047423987.1:c.1223del |
| AOPEP transcript variant X8 | XR_007061363.1:n.2462_2465= | XR_007061363.1:n.2465del |
| AOPEP transcript variant X22 | XM_047423986.1:c.1220_1223= | XM_047423986.1:c.1223del |
| AOPEP transcript variant X1 | XM_047423978.1:c.2111_2114= | XM_047423978.1:c.2114del |
| AOPEP transcript variant X5 | XM_047423979.1:c.1814_1817= | XM_047423979.1:c.1817del |
| AOPEP transcript variant X9 | XM_047423982.1:c.2274_*3= | XM_047423982.1:c.*3del |
| AOPEP transcript variant X12 | XM_047423984.1:c.1814_1817= | XM_047423984.1:c.1817del |
| AOPEP transcript variant X10 | XM_047423983.1:c.2274_*3= | XM_047423983.1:c.*3del |
| AOPEP transcript variant X7 | XM_047423981.1:c.2274_*3= | XM_047423981.1:c.*3del |
| C9orf3 transcript variant 3 | NM_001193330.1:c.1814_1817= | NM_001193330.1:c.1817del |
| aminopeptidase O isoform 2 | NP_116212.3:p.Glu605_Lys606= | NP_116212.3:p.Lys606fs |
| aminopeptidase O isoform 1 | NP_001180258.1:p.Glu704_Lys705= | NP_001180258.1:p.Lys705fs |
| aminopeptidase O isoform 6 | NP_001372991.1:p.Glu597_Lys598= | NP_001372991.1:p.Lys598fs |
| aminopeptidase O isoform 13 | NP_001373003.1:p.Glu704_Lys705= | NP_001373003.1:p.Lys705fs |
| aminopeptidase O isoform 1 | NP_001373004.1:p.Glu704_Lys705= | NP_001373004.1:p.Lys705fs |
| aminopeptidase O isoform 14 | NP_001373005.1:p.Glu704_Lys705= | NP_001373005.1:p.Lys705fs |
| aminopeptidase O isoform 3 | NP_001372997.1:p.Glu704_Lys705= | NP_001372997.1:p.Lys705fs |
| aminopeptidase O isoform 3 | NP_001372995.1:p.Glu704_Lys705= | NP_001372995.1:p.Lys705fs |
| aminopeptidase O isoform 10 | NP_001372999.1:p.Glu704_Lys705= | NP_001372999.1:p.Lys705fs |
| aminopeptidase O isoform 9 | NP_001372998.1:p.Glu605_Lys606= | NP_001372998.1:p.Lys606fs |
| aminopeptidase O isoform 8 | NP_001372996.1:p.Glu530_Lys531= | NP_001372996.1:p.Lys531fs |
| aminopeptidase O isoform 5 | NP_001372990.1:p.Glu274_Lys275= | NP_001372990.1:p.Lys275fs |
| aminopeptidase O isoform X2 | XP_011517423.1:p.Glu704_Lys705= | XP_011517423.1:p.Lys705fs |
| aminopeptidase O isoform X9 | XP_011517425.1:p.Glu704_Lys705= | XP_011517425.1:p.Lys705fs |
| aminopeptidase O isoform X8 | XP_016870721.1:p.Glu704_Lys705= | XP_016870721.1:p.Lys705fs |
| aminopeptidase O isoform X6 | XP_016870720.1:p.Glu605_Lys606= | XP_016870720.1:p.Lys606fs |
| aminopeptidase O isoform X17 | XP_016870726.1:p.Glu308_Lys309= | XP_016870726.1:p.Lys309fs |
| aminopeptidase O isoform X12 | XP_016870723.1:p.Glu407_Lys408= | XP_016870723.1:p.Lys408fs |
| aminopeptidase O isoform X15 | XP_016870725.1:p.Glu308_Lys309= | XP_016870725.1:p.Lys309fs |
| aminopeptidase O isoform X19 | XP_011517434.1:p.Glu324_Lys325= | XP_011517434.1:p.Lys325fs |
| aminopeptidase O isoform X18 | XP_047279944.1:p.Glu407_Lys408= | XP_047279944.1:p.Lys408fs |
| aminopeptidase O isoform X11 | XP_047279941.1:p.Glu605_Lys606= | XP_047279941.1:p.Lys606fs |
| aminopeptidase O isoform X13 | XP_047279943.1:p.Glu407_Lys408= | XP_047279943.1:p.Lys408fs |
| aminopeptidase O isoform X12 | XP_047279942.1:p.Glu407_Lys408= | XP_047279942.1:p.Lys408fs |
| aminopeptidase O isoform X1 | XP_047279934.1:p.Glu704_Lys705= | XP_047279934.1:p.Lys705fs |
| aminopeptidase O isoform X3 | XP_047279935.1:p.Glu605_Lys606= | XP_047279935.1:p.Lys606fs |
| aminopeptidase O isoform X5 | XP_047279940.1:p.Glu605_Lys606= | XP_047279940.1:p.Lys606fs |
| AOPEP transcript variant 7 | NM_001386063.2:c.1977+26185= | NM_001386063.2:c.1977+26188del |
| aminopeptidase O isoform X4 | XP_047279936.1:p.Ter758= | XP_047279936.1:p.Ter758= |
| aminopeptidase O isoform X4 | XP_047279937.1:p.Ter758= | XP_047279937.1:p.Ter758= |
| aminopeptidase O isoform X4 | XP_047279938.1:p.Ter758= | XP_047279938.1:p.Ter758= |
| aminopeptidase O isoform X4 | XP_047279939.1:p.Ter758= | XP_047279939.1:p.Ter758= |
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#.
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | GNOMAD | ss2737722760 | Nov 08, 2017 (151) |
| 2 | gnomAD - Exomes | NC_000009.11 - 97767894 | Jul 13, 2019 (153) |
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).
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
No publications for rs1477731541
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
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.