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.
rs552579436
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr15:22867247-22867250 (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
- delAG / dupAG
- Variation Type
- Indel Insertion and Deletion
- Frequency
-
delAG=0.00004 (1/28258, 14KJPN)delAG=0.00006 (1/16760, 8.3KJPN)delAG=0.00000 (0/14050, ALFA) (+ 2 more)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
-
CYFIP1 : 3 Prime UTR VariantNIPA2 : 3 Prime UTR 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.
| Population | Group | Sample Size | Ref Allele | Alt Allele | Ref HMOZ | Alt HMOZ | HTRZ | HWEP |
|---|---|---|---|---|---|---|---|---|
| Total | Global | 14050 | AGAG=1.00000 | AG=0.00000, AGAGAG=0.00000 | 1.0 | 0.0 | 0.0 | N/A |
| European | Sub | 9690 | AGAG=1.0000 | AG=0.0000, AGAGAG=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| African | Sub | 2898 | AGAG=1.0000 | AG=0.0000, AGAGAG=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| African Others | Sub | 114 | AGAG=1.000 | AG=0.000, AGAGAG=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| African American | Sub | 2784 | AGAG=1.0000 | AG=0.0000, AGAGAG=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| Asian | Sub | 112 | AGAG=1.000 | AG=0.000, AGAGAG=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| East Asian | Sub | 86 | AGAG=1.00 | AG=0.00, AGAGAG=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Other Asian | Sub | 26 | AGAG=1.00 | AG=0.00, AGAGAG=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 1 | Sub | 146 | AGAG=1.000 | AG=0.000, AGAGAG=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 2 | Sub | 610 | AGAG=1.000 | AG=0.000, AGAGAG=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| South Asian | Sub | 98 | AGAG=1.00 | AG=0.00, AGAGAG=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Other | Sub | 496 | AGAG=1.000 | AG=0.000, AGAGAG=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 |
|---|---|---|---|---|---|
| 14KJPN | JAPANESE | Study-wide | 28258 | AGAG=0.99996 | delAG=0.00004 |
| 8.3KJPN | JAPANESE | Study-wide | 16760 | AGAG=0.99994 | delAG=0.00006 |
| Allele Frequency Aggregator | Total | Global | 14050 | AGAG=1.00000 | delAG=0.00000, dupAG=0.00000 |
| Allele Frequency Aggregator | European | Sub | 9690 | AGAG=1.0000 | delAG=0.0000, dupAG=0.0000 |
| Allele Frequency Aggregator | African | Sub | 2898 | AGAG=1.0000 | delAG=0.0000, dupAG=0.0000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 610 | AGAG=1.000 | delAG=0.000, dupAG=0.000 |
| Allele Frequency Aggregator | Other | Sub | 496 | AGAG=1.000 | delAG=0.000, dupAG=0.000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 146 | AGAG=1.000 | delAG=0.000, dupAG=0.000 |
| Allele Frequency Aggregator | Asian | Sub | 112 | AGAG=1.000 | delAG=0.000, dupAG=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 98 | AGAG=1.00 | delAG=0.00, dupAG=0.00 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | AGAG=0.999 | delAG=0.001 |
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 15 | NC_000015.10:g.22867247AG[1] |
| GRCh38.p14 chr 15 | NC_000015.10:g.22867247AG[3] |
| GRCh37.p13 chr 15 | NC_000015.9:g.23005818CT[1] |
| GRCh37.p13 chr 15 | NC_000015.9:g.23005818CT[3] |
| CYFIP1 RefSeqGene | NG_054889.1:g.118657CT[1] |
| CYFIP1 RefSeqGene | NG_054889.1:g.118657CT[3] |
| NIPA2 RefSeqGene | NG_021303.1:g.33607AG[1] |
| NIPA2 RefSeqGene | NG_021303.1:g.33607AG[3] |
| GRCh38.p14 chr 15 fix patch HG2365_PATCH | NW_021160017.1:g.3761322AG[1] |
| GRCh38.p14 chr 15 fix patch HG2365_PATCH | NW_021160017.1:g.3761322AG[3] |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| CYFIP1 transcript variant 3 |
NM_001324120.2:c.*2778_*2… NM_001324120.2:c.*2778_*2781= |
N/A | 3 Prime UTR Variant |
| CYFIP1 transcript variant 5 |
NM_001324119.2:c.*2778_*2… NM_001324119.2:c.*2778_*2781= |
N/A | 3 Prime UTR Variant |
| CYFIP1 transcript variant 1 | NM_014608.6:c.*2778_*2781= | N/A | 3 Prime UTR Variant |
| CYFIP1 transcript variant 2 |
NM_001287810.4:c.*2778_*2… NM_001287810.4:c.*2778_*2781= |
N/A | 3 Prime UTR Variant |
| CYFIP1 transcript variant 9 |
NM_001324122.3:c.*2778_*2… NM_001324122.3:c.*2778_*2781= |
N/A | 3 Prime UTR Variant |
| CYFIP1 transcript variant 7 |
NM_001324125.3:c.*2778_*2… NM_001324125.3:c.*2778_*2781= |
N/A | 3 Prime UTR Variant |
| CYFIP1 transcript variant 8 |
NM_001324126.3:c.*2778_*2… NM_001324126.3:c.*2778_*2781= |
N/A | 3 Prime UTR Variant |
| CYFIP1 transcript variant 4 |
NM_001324123.3:c.*2778_*2… NM_001324123.3:c.*2778_*2781= |
N/A | 3 Prime UTR Variant |
| CYFIP1 transcript variant 6 |
NM_001324124.3:c.*2778_*2… NM_001324124.3:c.*2778_*2781= |
N/A | 3 Prime UTR Variant |
| CYFIP1 transcript variant 10 |
NM_001033028.3:c.*2778_*2… NM_001033028.3:c.*2778_*2781= |
N/A | 3 Prime UTR Variant |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| NIPA2 transcript variant 2 |
NM_001008860.3:c.*400_*40… NM_001008860.3:c.*400_*403= |
N/A | 3 Prime UTR Variant |
| NIPA2 transcript variant 6 |
NM_001184888.2:c.*400_*40… NM_001184888.2:c.*400_*403= |
N/A | 3 Prime UTR Variant |
| NIPA2 transcript variant 3 |
NM_001008892.3:c.*400_*40… NM_001008892.3:c.*400_*403= |
N/A | 3 Prime UTR Variant |
| NIPA2 transcript variant 1 | NM_030922.7:c.*400_*403= | N/A | 3 Prime UTR Variant |
| NIPA2 transcript variant 4 |
NM_001008894.3:c.*400_*40… NM_001008894.3:c.*400_*403= |
N/A | 3 Prime UTR Variant |
| NIPA2 transcript variant 5 |
NM_001184889.2:c.*400_*40… NM_001184889.2:c.*400_*403= |
N/A | 3 Prime UTR Variant |
| NIPA2 transcript variant X1 |
XM_005272546.4:c.*400_*40… XM_005272546.4:c.*400_*403= |
N/A | 3 Prime UTR Variant |
| NIPA2 transcript variant X2 |
XM_005272547.5:c.*400_*40… XM_005272547.5:c.*400_*403= |
N/A | 3 Prime UTR Variant |
| NIPA2 transcript variant X3 |
XM_017022645.2:c.*400_*40… XM_017022645.2:c.*400_*403= |
N/A | 3 Prime UTR Variant |
| NIPA2 transcript variant X4 |
XM_011543877.3:c.*400_*40… XM_011543877.3:c.*400_*403= |
N/A | 3 Prime UTR Variant |
| NIPA2 transcript variant X5 |
XM_006720364.3:c.*400_*40… XM_006720364.3:c.*400_*403= |
N/A | 3 Prime UTR Variant |
| NIPA2 transcript variant X6 |
XM_017022646.2:c.*400_*40… XM_017022646.2:c.*400_*403= |
N/A | 3 Prime UTR Variant |
| NIPA2 transcript variant X7 |
XM_017022647.2:c.*400_*40… XM_017022647.2:c.*400_*403= |
N/A | 3 Prime UTR Variant |
| NIPA2 transcript variant X8 |
XM_005272550.4:c.*400_*40… XM_005272550.4:c.*400_*403= |
N/A | 3 Prime UTR Variant |
| NIPA2 transcript variant X9 |
XM_017022648.2:c.*400_*40… XM_017022648.2:c.*400_*403= |
N/A | 3 Prime UTR Variant |
| NIPA2 transcript variant X10 |
XM_005272548.4:c.*400_*40… XM_005272548.4:c.*400_*403= |
N/A | 3 Prime UTR Variant |
| NIPA2 transcript variant X11 |
XM_011543880.4:c.*400_*40… XM_011543880.4:c.*400_*403= |
N/A | 3 Prime UTR Variant |
| NIPA2 transcript variant X12 |
XM_017022649.3:c.*400_*40… XM_017022649.3:c.*400_*403= |
N/A | 3 Prime UTR Variant |
| NIPA2 transcript variant X13 |
XM_011543878.4:c.*400_*40… XM_011543878.4:c.*400_*403= |
N/A | 3 Prime UTR Variant |
| NIPA2 transcript variant X14 |
XM_011543879.4:c.*400_*40… XM_011543879.4:c.*400_*403= |
N/A | 3 Prime UTR Variant |
| NIPA2 transcript variant X15 |
XM_017022650.3:c.*400_*40… XM_017022650.3:c.*400_*403= |
N/A | 3 Prime UTR Variant |
| NIPA2 transcript variant X16 |
XM_047433150.1:c.*400_*40… XM_047433150.1:c.*400_*403= |
N/A | 3 Prime UTR Variant |
| NIPA2 transcript variant X17 |
XM_017022652.3:c.*400_*40… XM_017022652.3:c.*400_*403= |
N/A | 3 Prime UTR Variant |
| NIPA2 transcript variant X18 |
XM_017022651.3:c.*400_*40… XM_017022651.3:c.*400_*403= |
N/A | 3 Prime UTR Variant |
| NIPA2 transcript variant X19 |
XM_047433151.1:c.*400_*40… XM_047433151.1:c.*400_*403= |
N/A | 3 Prime UTR Variant |
| NIPA2 transcript variant X20 |
XM_047433152.1:c.*400_*40… XM_047433152.1:c.*400_*403= |
N/A | 3 Prime UTR Variant |
| NIPA2 transcript variant X21 |
XM_047433153.1:c.*400_*40… XM_047433153.1:c.*400_*403= |
N/A | 3 Prime UTR Variant |
| NIPA2 transcript variant X22 |
XM_047433154.1:c.*400_*40… XM_047433154.1:c.*400_*403= |
N/A | 3 Prime UTR Variant |
| NIPA2 transcript variant X23 |
XM_017022653.3:c.*400_*40… XM_017022653.3:c.*400_*403= |
N/A | 3 Prime UTR Variant |
| NIPA2 transcript variant X24 |
XM_005272552.5:c.*400_*40… XM_005272552.5:c.*400_*403= |
N/A | 3 Prime UTR Variant |
| NIPA2 transcript variant X25 |
XM_047433155.1:c.*400_*40… XM_047433155.1:c.*400_*403= |
N/A | 3 Prime UTR Variant |
| NIPA2 transcript variant X26 |
XM_047433156.1:c.*400_*40… XM_047433156.1:c.*400_*403= |
N/A | 3 Prime UTR Variant |
| NIPA2 transcript variant X27 |
XM_005272553.6:c.*400_*40… XM_005272553.6:c.*400_*403= |
N/A | 3 Prime UTR Variant |
| NIPA2 transcript variant X28 |
XM_047433157.1:c.*400_*40… XM_047433157.1:c.*400_*403= |
N/A | 3 Prime UTR Variant |
| NIPA2 transcript variant X29 |
XM_017022654.3:c.*400_*40… XM_017022654.3:c.*400_*403= |
N/A | 3 Prime UTR Variant |
| NIPA2 transcript variant X30 |
XM_006720367.2:c.*400_*40… XM_006720367.2:c.*400_*403= |
N/A | 3 Prime UTR Variant |
| NIPA2 transcript variant X31 |
XM_017022655.2:c.*400_*40… XM_017022655.2:c.*400_*403= |
N/A | 3 Prime UTR Variant |
| NIPA2 transcript variant X32 |
XM_017022656.2:c.*400_*40… XM_017022656.2:c.*400_*403= |
N/A | 3 Prime UTR Variant |
| NIPA2 transcript variant X33 |
XM_047433158.1:c.*400_*40… XM_047433158.1:c.*400_*403= |
N/A | 3 Prime UTR Variant |
| NIPA2 transcript variant X34 |
XM_017022657.2:c.*400_*40… XM_017022657.2:c.*400_*403= |
N/A | 3 Prime UTR Variant |
| NIPA2 transcript variant X35 |
XM_047433159.1:c.*400_*40… XM_047433159.1:c.*400_*403= |
N/A | 3 Prime UTR Variant |
| NIPA2 transcript variant X36 |
XM_047433160.1:c.*400_*40… XM_047433160.1:c.*400_*403= |
N/A | 3 Prime UTR Variant |
| NIPA2 transcript variant X37 |
XM_047433161.1:c.*400_*40… XM_047433161.1:c.*400_*403= |
N/A | 3 Prime UTR Variant |
| NIPA2 transcript variant X38 |
XM_017022658.2:c.*400_*40… XM_017022658.2:c.*400_*403= |
N/A | 3 Prime UTR Variant |
| NIPA2 transcript variant X39 |
XM_047433162.1:c.*400_*40… XM_047433162.1:c.*400_*403= |
N/A | 3 Prime UTR Variant |
| NIPA2 transcript variant X40 |
XM_017022660.2:c.*400_*40… XM_017022660.2:c.*400_*403= |
N/A | 3 Prime UTR Variant |
| NIPA2 transcript variant X41 |
XM_017022659.2:c.*400_*40… XM_017022659.2:c.*400_*403= |
N/A | 3 Prime UTR Variant |
| NIPA2 transcript variant X42 |
XM_017022661.2:c.*400_*40… XM_017022661.2:c.*400_*403= |
N/A | 3 Prime UTR Variant |
| NIPA2 transcript variant X43 |
XM_047433163.1:c.*400_*40… XM_047433163.1:c.*400_*403= |
N/A | 3 Prime UTR Variant |
| NIPA2 transcript variant X44 |
XM_017022662.2:c.*400_*40… XM_017022662.2:c.*400_*403= |
N/A | 3 Prime UTR Variant |
| NIPA2 transcript variant X45 |
XM_017022663.2:c.*400_*40… XM_017022663.2:c.*400_*403= |
N/A | 3 Prime UTR 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 | AGAG= | delAG | dupAG |
|---|---|---|---|
| GRCh38.p14 chr 15 | NC_000015.10:g.22867247_22867250= | NC_000015.10:g.22867247AG[1] | NC_000015.10:g.22867247AG[3] |
| GRCh37.p13 chr 15 | NC_000015.9:g.23005818_23005821= | NC_000015.9:g.23005818CT[1] | NC_000015.9:g.23005818CT[3] |
| CYFIP1 RefSeqGene | NG_054889.1:g.118657_118660= | NG_054889.1:g.118657CT[1] | NG_054889.1:g.118657CT[3] |
| CYFIP1 transcript variant 1 | NM_014608.6:c.*2778_*2781= | NM_014608.6:c.*2778CT[1] | NM_014608.6:c.*2778CT[3] |
| CYFIP1 transcript variant 1 | NM_014608.5:c.*2778_*2781= | NM_014608.5:c.*2778CT[1] | NM_014608.5:c.*2778CT[3] |
| CYFIP1 transcript variant 2 | NM_001287810.4:c.*2778_*2781= | NM_001287810.4:c.*2778CT[1] | NM_001287810.4:c.*2778CT[3] |
| CYFIP1 transcript variant 2 | NM_001287810.3:c.*2778_*2781= | NM_001287810.3:c.*2778CT[1] | NM_001287810.3:c.*2778CT[3] |
| CYFIP1 transcript variant 9 | NM_001324122.3:c.*2778_*2781= | NM_001324122.3:c.*2778CT[1] | NM_001324122.3:c.*2778CT[3] |
| CYFIP1 transcript variant 9 | NM_001324122.2:c.*2778_*2781= | NM_001324122.2:c.*2778CT[1] | NM_001324122.2:c.*2778CT[3] |
| CYFIP1 transcript variant 4 | NM_001324123.3:c.*2778_*2781= | NM_001324123.3:c.*2778CT[1] | NM_001324123.3:c.*2778CT[3] |
| CYFIP1 transcript variant 4 | NM_001324123.2:c.*2778_*2781= | NM_001324123.2:c.*2778CT[1] | NM_001324123.2:c.*2778CT[3] |
| CYFIP1 transcript variant 6 | NM_001324124.3:c.*2778_*2781= | NM_001324124.3:c.*2778CT[1] | NM_001324124.3:c.*2778CT[3] |
| CYFIP1 transcript variant 6 | NM_001324124.2:c.*2778_*2781= | NM_001324124.2:c.*2778CT[1] | NM_001324124.2:c.*2778CT[3] |
| CYFIP1 transcript variant 8 | NM_001324126.3:c.*2778_*2781= | NM_001324126.3:c.*2778CT[1] | NM_001324126.3:c.*2778CT[3] |
| CYFIP1 transcript variant 8 | NM_001324126.2:c.*2778_*2781= | NM_001324126.2:c.*2778CT[1] | NM_001324126.2:c.*2778CT[3] |
| CYFIP1 transcript variant 7 | NM_001324125.3:c.*2778_*2781= | NM_001324125.3:c.*2778CT[1] | NM_001324125.3:c.*2778CT[3] |
| CYFIP1 transcript variant 7 | NM_001324125.2:c.*2778_*2781= | NM_001324125.2:c.*2778CT[1] | NM_001324125.2:c.*2778CT[3] |
| CYFIP1 transcript variant 10 | NM_001033028.3:c.*2778_*2781= | NM_001033028.3:c.*2778CT[1] | NM_001033028.3:c.*2778CT[3] |
| CYFIP1 transcript variant 10 | NM_001033028.2:c.*2778_*2781= | NM_001033028.2:c.*2778CT[1] | NM_001033028.2:c.*2778CT[3] |
| CYFIP1 transcript variant 3 | NM_001324120.2:c.*2778_*2781= | NM_001324120.2:c.*2778CT[1] | NM_001324120.2:c.*2778CT[3] |
| CYFIP1 transcript variant 5 | NM_001324119.2:c.*2778_*2781= | NM_001324119.2:c.*2778CT[1] | NM_001324119.2:c.*2778CT[3] |
| NIPA2 RefSeqGene | NG_021303.1:g.33607_33610= | NG_021303.1:g.33607AG[1] | NG_021303.1:g.33607AG[3] |
| NIPA2 transcript variant 1 | NM_030922.7:c.*400_*403= | NM_030922.7:c.*400AG[1] | NM_030922.7:c.*400AG[3] |
| NIPA2 transcript variant 1 | NM_030922.6:c.*400_*403= | NM_030922.6:c.*400AG[1] | NM_030922.6:c.*400AG[3] |
| NIPA2 transcript variant 2 | NM_001008860.3:c.*400_*403= | NM_001008860.3:c.*400AG[1] | NM_001008860.3:c.*400AG[3] |
| NIPA2 transcript variant 2 | NM_001008860.2:c.*400_*403= | NM_001008860.2:c.*400AG[1] | NM_001008860.2:c.*400AG[3] |
| NIPA2 transcript variant 3 | NM_001008892.3:c.*400_*403= | NM_001008892.3:c.*400AG[1] | NM_001008892.3:c.*400AG[3] |
| NIPA2 transcript variant 3 | NM_001008892.2:c.*400_*403= | NM_001008892.2:c.*400AG[1] | NM_001008892.2:c.*400AG[3] |
| NIPA2 transcript variant 4 | NM_001008894.3:c.*400_*403= | NM_001008894.3:c.*400AG[1] | NM_001008894.3:c.*400AG[3] |
| NIPA2 transcript variant 4 | NM_001008894.2:c.*400_*403= | NM_001008894.2:c.*400AG[1] | NM_001008894.2:c.*400AG[3] |
| NIPA2 transcript variant 5 | NM_001184889.2:c.*400_*403= | NM_001184889.2:c.*400AG[1] | NM_001184889.2:c.*400AG[3] |
| NIPA2 transcript variant 5 | NM_001184889.1:c.*400_*403= | NM_001184889.1:c.*400AG[1] | NM_001184889.1:c.*400AG[3] |
| NIPA2 transcript variant 6 | NM_001184888.2:c.*400_*403= | NM_001184888.2:c.*400AG[1] | NM_001184888.2:c.*400AG[3] |
| NIPA2 transcript variant 6 | NM_001184888.1:c.*400_*403= | NM_001184888.1:c.*400AG[1] | NM_001184888.1:c.*400AG[3] |
| GRCh38.p14 chr 15 fix patch HG2365_PATCH | NW_021160017.1:g.3761322_3761325= | NW_021160017.1:g.3761322AG[1] | NW_021160017.1:g.3761322AG[3] |
| NIPA2 transcript variant X10 | XM_005272548.4:c.*400_*403= | XM_005272548.4:c.*400AG[1] | XM_005272548.4:c.*400AG[3] |
| NIPA2 transcript variant X11 | XM_005272548.3:c.*400_*403= | XM_005272548.3:c.*400AG[1] | XM_005272548.3:c.*400AG[3] |
| NIPA2 transcript variant X6 | XM_005272548.2:c.*400_*403= | XM_005272548.2:c.*400AG[1] | XM_005272548.2:c.*400AG[3] |
| NIPA2 transcript variant X3 | XM_005272548.1:c.*400_*403= | XM_005272548.1:c.*400AG[1] | XM_005272548.1:c.*400AG[3] |
| NIPA2 transcript variant X27 | XM_005272553.6:c.*400_*403= | XM_005272553.6:c.*400AG[1] | XM_005272553.6:c.*400AG[3] |
| NIPA2 transcript variant X23 | XM_005272553.5:c.*400_*403= | XM_005272553.5:c.*400AG[1] | XM_005272553.5:c.*400AG[3] |
| NIPA2 transcript variant X22 | XM_005272553.4:c.*400_*403= | XM_005272553.4:c.*400AG[1] | XM_005272553.4:c.*400AG[3] |
| NIPA2 transcript variant X13 | XM_005272553.3:c.*400_*403= | XM_005272553.3:c.*400AG[1] | XM_005272553.3:c.*400AG[3] |
| NIPA2 transcript variant X8 | XM_005272553.2:c.*400_*403= | XM_005272553.2:c.*400AG[1] | XM_005272553.2:c.*400AG[3] |
| NIPA2 transcript variant X8 | XM_005272553.1:c.*400_*403= | XM_005272553.1:c.*400AG[1] | XM_005272553.1:c.*400AG[3] |
| NIPA2 transcript variant X13 | XM_011543878.4:c.*400_*403= | XM_011543878.4:c.*400AG[1] | XM_011543878.4:c.*400AG[3] |
| NIPA2 transcript variant X13 | XM_011543878.3:c.*400_*403= | XM_011543878.3:c.*400AG[1] | XM_011543878.3:c.*400AG[3] |
| NIPA2 transcript variant X12 | XM_011543878.2:c.*400_*403= | XM_011543878.2:c.*400AG[1] | XM_011543878.2:c.*400AG[3] |
| NIPA2 transcript variant X8 | XM_011543878.1:c.*400_*403= | XM_011543878.1:c.*400AG[1] | XM_011543878.1:c.*400AG[3] |
| NIPA2 transcript variant X1 | XM_005272546.4:c.*400_*403= | XM_005272546.4:c.*400AG[1] | XM_005272546.4:c.*400AG[3] |
| NIPA2 transcript variant X1 | XM_005272546.3:c.*400_*403= | XM_005272546.3:c.*400AG[1] | XM_005272546.3:c.*400AG[3] |
| NIPA2 transcript variant X1 | XM_005272546.2:c.*400_*403= | XM_005272546.2:c.*400AG[1] | XM_005272546.2:c.*400AG[3] |
| NIPA2 transcript variant X1 | XM_005272546.1:c.*400_*403= | XM_005272546.1:c.*400AG[1] | XM_005272546.1:c.*400AG[3] |
| NIPA2 transcript variant X2 | XM_005272547.5:c.*400_*403= | XM_005272547.5:c.*400AG[1] | XM_005272547.5:c.*400AG[3] |
| NIPA2 transcript variant X3 | XM_005272547.4:c.*400_*403= | XM_005272547.4:c.*400AG[1] | XM_005272547.4:c.*400AG[3] |
| NIPA2 transcript variant X2 | XM_005272547.3:c.*400_*403= | XM_005272547.3:c.*400AG[1] | XM_005272547.3:c.*400AG[3] |
| NIPA2 transcript variant X2 | XM_005272547.2:c.*400_*403= | XM_005272547.2:c.*400AG[1] | XM_005272547.2:c.*400AG[3] |
| NIPA2 transcript variant X2 | XM_005272547.1:c.*400_*403= | XM_005272547.1:c.*400AG[1] | XM_005272547.1:c.*400AG[3] |
| NIPA2 transcript variant X24 | XM_005272552.5:c.*400_*403= | XM_005272552.5:c.*400AG[1] | XM_005272552.5:c.*400AG[3] |
| NIPA2 transcript variant X21 | XM_005272552.4:c.*400_*403= | XM_005272552.4:c.*400AG[1] | XM_005272552.4:c.*400AG[3] |
| NIPA2 transcript variant X20 | XM_005272552.3:c.*400_*403= | XM_005272552.3:c.*400AG[1] | XM_005272552.3:c.*400AG[3] |
| NIPA2 transcript variant X12 | XM_005272552.2:c.*400_*403= | XM_005272552.2:c.*400AG[1] | XM_005272552.2:c.*400AG[3] |
| NIPA2 transcript variant X7 | XM_005272552.1:c.*400_*403= | XM_005272552.1:c.*400AG[1] | XM_005272552.1:c.*400AG[3] |
| NIPA2 transcript variant X11 | XM_011543880.4:c.*400_*403= | XM_011543880.4:c.*400AG[1] | XM_011543880.4:c.*400AG[3] |
| NIPA2 transcript variant X14 | XM_011543880.3:c.*400_*403= | XM_011543880.3:c.*400AG[1] | XM_011543880.3:c.*400AG[3] |
| NIPA2 transcript variant X13 | XM_011543880.2:c.*400_*403= | XM_011543880.2:c.*400AG[1] | XM_011543880.2:c.*400AG[3] |
| NIPA2 transcript variant X10 | XM_011543880.1:c.*400_*403= | XM_011543880.1:c.*400AG[1] | XM_011543880.1:c.*400AG[3] |
| NIPA2 transcript variant X8 | XM_005272550.4:c.*400_*403= | XM_005272550.4:c.*400AG[1] | XM_005272550.4:c.*400AG[3] |
| NIPA2 transcript variant X10 | XM_005272550.3:c.*400_*403= | XM_005272550.3:c.*400AG[1] | XM_005272550.3:c.*400AG[3] |
| NIPA2 transcript variant X5 | XM_005272550.2:c.*400_*403= | XM_005272550.2:c.*400AG[1] | XM_005272550.2:c.*400AG[3] |
| NIPA2 transcript variant X5 | XM_005272550.1:c.*400_*403= | XM_005272550.1:c.*400AG[1] | XM_005272550.1:c.*400AG[3] |
| NIPA2 transcript variant X14 | XM_011543879.4:c.*400_*403= | XM_011543879.4:c.*400AG[1] | XM_011543879.4:c.*400AG[3] |
| NIPA2 transcript variant X15 | XM_011543879.3:c.*400_*403= | XM_011543879.3:c.*400AG[1] | XM_011543879.3:c.*400AG[3] |
| NIPA2 transcript variant X14 | XM_011543879.2:c.*400_*403= | XM_011543879.2:c.*400AG[1] | XM_011543879.2:c.*400AG[3] |
| NIPA2 transcript variant X9 | XM_011543879.1:c.*400_*403= | XM_011543879.1:c.*400AG[1] | XM_011543879.1:c.*400AG[3] |
| NIPA2 transcript variant X18 | XM_017022651.3:c.*400_*403= | XM_017022651.3:c.*400AG[1] | XM_017022651.3:c.*400AG[3] |
| NIPA2 transcript variant X18 | XM_017022651.2:c.*400_*403= | XM_017022651.2:c.*400AG[1] | XM_017022651.2:c.*400AG[3] |
| NIPA2 transcript variant X16 | XM_017022651.1:c.*400_*403= | XM_017022651.1:c.*400AG[1] | XM_017022651.1:c.*400AG[3] |
| NIPA2 transcript variant X23 | XM_017022653.3:c.*400_*403= | XM_017022653.3:c.*400AG[1] | XM_017022653.3:c.*400AG[3] |
| NIPA2 transcript variant X19 | XM_017022653.2:c.*400_*403= | XM_017022653.2:c.*400AG[1] | XM_017022653.2:c.*400AG[3] |
| NIPA2 transcript variant X19 | XM_017022653.1:c.*400_*403= | XM_017022653.1:c.*400AG[1] | XM_017022653.1:c.*400AG[3] |
| NIPA2 transcript variant X4 | XM_011543877.3:c.*400_*403= | XM_011543877.3:c.*400AG[1] | XM_011543877.3:c.*400AG[3] |
| NIPA2 transcript variant X4 | XM_011543877.2:c.*400_*403= | XM_011543877.2:c.*400AG[1] | XM_011543877.2:c.*400AG[3] |
| NIPA2 transcript variant X3 | XM_011543877.1:c.*400_*403= | XM_011543877.1:c.*400AG[1] | XM_011543877.1:c.*400AG[3] |
| NIPA2 transcript variant X12 | XM_017022649.3:c.*400_*403= | XM_017022649.3:c.*400AG[1] | XM_017022649.3:c.*400AG[3] |
| NIPA2 transcript variant X12 | XM_017022649.2:c.*400_*403= | XM_017022649.2:c.*400AG[1] | XM_017022649.2:c.*400AG[3] |
| NIPA2 transcript variant X11 | XM_017022649.1:c.*400_*403= | XM_017022649.1:c.*400AG[1] | XM_017022649.1:c.*400AG[3] |
| NIPA2 transcript variant X15 | XM_017022650.3:c.*400_*403= | XM_017022650.3:c.*400AG[1] | XM_017022650.3:c.*400AG[3] |
| NIPA2 transcript variant X16 | XM_017022650.2:c.*400_*403= | XM_017022650.2:c.*400AG[1] | XM_017022650.2:c.*400AG[3] |
| NIPA2 transcript variant X15 | XM_017022650.1:c.*400_*403= | XM_017022650.1:c.*400AG[1] | XM_017022650.1:c.*400AG[3] |
| NIPA2 transcript variant X5 | XM_006720364.3:c.*400_*403= | XM_006720364.3:c.*400AG[1] | XM_006720364.3:c.*400AG[3] |
| NIPA2 transcript variant X6 | XM_006720364.2:c.*400_*403= | XM_006720364.2:c.*400AG[1] | XM_006720364.2:c.*400AG[3] |
| NIPA2 transcript variant X4 | XM_006720364.1:c.*400_*403= | XM_006720364.1:c.*400AG[1] | XM_006720364.1:c.*400AG[3] |
| NIPA2 transcript variant X17 | XM_017022652.3:c.*400_*403= | XM_017022652.3:c.*400AG[1] | XM_017022652.3:c.*400AG[3] |
| NIPA2 transcript variant X17 | XM_017022652.2:c.*400_*403= | XM_017022652.2:c.*400AG[1] | XM_017022652.2:c.*400AG[3] |
| NIPA2 transcript variant X17 | XM_017022652.1:c.*400_*403= | XM_017022652.1:c.*400AG[1] | XM_017022652.1:c.*400AG[3] |
| NIPA2 transcript variant X29 | XM_017022654.3:c.*400_*403= | XM_017022654.3:c.*400AG[1] | XM_017022654.3:c.*400AG[3] |
| NIPA2 transcript variant X22 | XM_017022654.2:c.*400_*403= | XM_017022654.2:c.*400AG[1] | XM_017022654.2:c.*400AG[3] |
| NIPA2 transcript variant X21 | XM_017022654.1:c.*400_*403= | XM_017022654.1:c.*400AG[1] | XM_017022654.1:c.*400AG[3] |
| NIPA2 transcript variant X3 | XM_017022645.2:c.*400_*403= | XM_017022645.2:c.*400AG[1] | XM_017022645.2:c.*400AG[3] |
| NIPA2 transcript variant X5 | XM_017022645.1:c.*400_*403= | XM_017022645.1:c.*400AG[1] | XM_017022645.1:c.*400AG[3] |
| NIPA2 transcript variant X6 | XM_017022646.2:c.*400_*403= | XM_017022646.2:c.*400AG[1] | XM_017022646.2:c.*400AG[3] |
| NIPA2 transcript variant X7 | XM_017022646.1:c.*400_*403= | XM_017022646.1:c.*400AG[1] | XM_017022646.1:c.*400AG[3] |
| NIPA2 transcript variant X7 | XM_017022647.2:c.*400_*403= | XM_017022647.2:c.*400AG[1] | XM_017022647.2:c.*400AG[3] |
| NIPA2 transcript variant X8 | XM_017022647.1:c.*400_*403= | XM_017022647.1:c.*400AG[1] | XM_017022647.1:c.*400AG[3] |
| NIPA2 transcript variant X40 | XM_017022660.2:c.*400_*403= | XM_017022660.2:c.*400AG[1] | XM_017022660.2:c.*400AG[3] |
| NIPA2 transcript variant X31 | XM_017022660.1:c.*400_*403= | XM_017022660.1:c.*400AG[1] | XM_017022660.1:c.*400AG[3] |
| NIPA2 transcript variant X34 | XM_017022657.2:c.*400_*403= | XM_017022657.2:c.*400AG[1] | XM_017022657.2:c.*400AG[3] |
| NIPA2 transcript variant X28 | XM_017022657.1:c.*400_*403= | XM_017022657.1:c.*400AG[1] | XM_017022657.1:c.*400AG[3] |
| NIPA2 transcript variant X41 | XM_017022659.2:c.*400_*403= | XM_017022659.2:c.*400AG[1] | XM_017022659.2:c.*400AG[3] |
| NIPA2 transcript variant X30 | XM_017022659.1:c.*400_*403= | XM_017022659.1:c.*400AG[1] | XM_017022659.1:c.*400AG[3] |
| NIPA2 transcript variant X32 | XM_017022656.2:c.*400_*403= | XM_017022656.2:c.*400AG[1] | XM_017022656.2:c.*400AG[3] |
| NIPA2 transcript variant X27 | XM_017022656.1:c.*400_*403= | XM_017022656.1:c.*400AG[1] | XM_017022656.1:c.*400AG[3] |
| NIPA2 transcript variant X31 | XM_017022655.2:c.*400_*403= | XM_017022655.2:c.*400AG[1] | XM_017022655.2:c.*400AG[3] |
| NIPA2 transcript variant X26 | XM_017022655.1:c.*400_*403= | XM_017022655.1:c.*400AG[1] | XM_017022655.1:c.*400AG[3] |
| NIPA2 transcript variant X44 | XM_017022662.2:c.*400_*403= | XM_017022662.2:c.*400AG[1] | XM_017022662.2:c.*400AG[3] |
| NIPA2 transcript variant X33 | XM_017022662.1:c.*400_*403= | XM_017022662.1:c.*400AG[1] | XM_017022662.1:c.*400AG[3] |
| NIPA2 transcript variant X42 | XM_017022661.2:c.*400_*403= | XM_017022661.2:c.*400AG[1] | XM_017022661.2:c.*400AG[3] |
| NIPA2 transcript variant X32 | XM_017022661.1:c.*400_*403= | XM_017022661.1:c.*400AG[1] | XM_017022661.1:c.*400AG[3] |
| NIPA2 transcript variant X38 | XM_017022658.2:c.*400_*403= | XM_017022658.2:c.*400AG[1] | XM_017022658.2:c.*400AG[3] |
| NIPA2 transcript variant X29 | XM_017022658.1:c.*400_*403= | XM_017022658.1:c.*400AG[1] | XM_017022658.1:c.*400AG[3] |
| NIPA2 transcript variant X45 | XM_017022663.2:c.*400_*403= | XM_017022663.2:c.*400AG[1] | XM_017022663.2:c.*400AG[3] |
| NIPA2 transcript variant X34 | XM_017022663.1:c.*400_*403= | XM_017022663.1:c.*400AG[1] | XM_017022663.1:c.*400AG[3] |
| NIPA2 transcript variant X9 | XM_017022648.2:c.*400_*403= | XM_017022648.2:c.*400AG[1] | XM_017022648.2:c.*400AG[3] |
| NIPA2 transcript variant X9 | XM_017022648.1:c.*400_*403= | XM_017022648.1:c.*400AG[1] | XM_017022648.1:c.*400AG[3] |
| NIPA2 transcript variant X30 | XM_006720367.2:c.*400_*403= | XM_006720367.2:c.*400AG[1] | XM_006720367.2:c.*400AG[3] |
| NIPA2 transcript variant X25 | XM_006720367.1:c.*400_*403= | XM_006720367.1:c.*400AG[1] | XM_006720367.1:c.*400AG[3] |
| NIPA2 transcript variant X26 | XM_047433156.1:c.*400_*403= | XM_047433156.1:c.*400AG[1] | XM_047433156.1:c.*400AG[3] |
| NIPA2 transcript variant X16 | XM_047433150.1:c.*400_*403= | XM_047433150.1:c.*400AG[1] | XM_047433150.1:c.*400AG[3] |
| NIPA2 transcript variant X25 | XM_047433155.1:c.*400_*403= | XM_047433155.1:c.*400AG[1] | XM_047433155.1:c.*400AG[3] |
| NIPA2 transcript variant X33 | XM_047433158.1:c.*400_*403= | XM_047433158.1:c.*400AG[1] | XM_047433158.1:c.*400AG[3] |
| NIPA2 transcript variant X19 | XM_047433151.1:c.*400_*403= | XM_047433151.1:c.*400AG[1] | XM_047433151.1:c.*400AG[3] |
| NIPA2 transcript variant X39 | XM_047433162.1:c.*400_*403= | XM_047433162.1:c.*400AG[1] | XM_047433162.1:c.*400AG[3] |
| NIPA2 transcript variant X22 | XM_047433154.1:c.*400_*403= | XM_047433154.1:c.*400AG[1] | XM_047433154.1:c.*400AG[3] |
| NIPA2 transcript variant X28 | XM_047433157.1:c.*400_*403= | XM_047433157.1:c.*400AG[1] | XM_047433157.1:c.*400AG[3] |
| NIPA2 transcript variant X21 | XM_047433153.1:c.*400_*403= | XM_047433153.1:c.*400AG[1] | XM_047433153.1:c.*400AG[3] |
| NIPA2 transcript variant X43 | XM_047433163.1:c.*400_*403= | XM_047433163.1:c.*400AG[1] | XM_047433163.1:c.*400AG[3] |
| NIPA2 transcript variant X20 | XM_047433152.1:c.*400_*403= | XM_047433152.1:c.*400AG[1] | XM_047433152.1:c.*400AG[3] |
| NIPA2 transcript variant X37 | XM_047433161.1:c.*400_*403= | XM_047433161.1:c.*400AG[1] | XM_047433161.1:c.*400AG[3] |
| NIPA2 transcript variant X35 | XM_047433159.1:c.*400_*403= | XM_047433159.1:c.*400AG[1] | XM_047433159.1:c.*400AG[3] |
| NIPA2 transcript variant X36 | XM_047433160.1:c.*400_*403= | XM_047433160.1:c.*400AG[1] | XM_047433160.1:c.*400AG[3] |
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 | EVA-GONL | ss991579138 | Aug 21, 2014 (142) |
| 2 | EVA_DECODE | ss3697504763 | Jul 13, 2019 (153) |
| 3 | GNOMAD | ss4285267192 | Apr 27, 2021 (155) |
| 4 | GNOMAD | ss4285267194 | Apr 27, 2021 (155) |
| 5 | TOPMED | ss4984408938 | Apr 27, 2021 (155) |
| 6 | TOPMED | ss4984408939 | Apr 27, 2021 (155) |
| 7 | TOMMO_GENOMICS | ss5215209887 | Apr 27, 2021 (155) |
| 8 | TOMMO_GENOMICS | ss5768734726 | Oct 16, 2022 (156) |
| 9 |
gnomAD - Genomes
Submission ignored due to conflicting rows: |
- | Apr 27, 2021 (155) |
| 10 |
gnomAD - Genomes
Submission ignored due to conflicting rows: |
- | Apr 27, 2021 (155) |
| 11 | Genome of the Netherlands Release 5 | NC_000015.9 - 23005818 | Apr 27, 2020 (154) |
| 12 | 8.3KJPN | NC_000015.9 - 23005818 | Apr 27, 2021 (155) |
| 13 | 14KJPN | NC_000015.10 - 22867247 | Oct 16, 2022 (156) |
| 14 |
TopMed
Submission ignored due to conflicting rows: |
- | Apr 27, 2021 (155) |
| 15 |
TopMed
Submission ignored due to conflicting rows: |
- | Apr 27, 2021 (155) |
| 16 | ALFA | NC_000015.10 - 22867247 | Apr 27, 2021 (155) |
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).
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| 16294460, 73179194, ss991579138, ss5215209887 | NC_000015.9:23005817:CT: | NC_000015.10:22867246:AGAG:AG | (self) |
| 102571830, ss3697504763, ss4285267194, ss4984408939, ss5768734726 | NC_000015.10:22867246:AG: | NC_000015.10:22867246:AGAG:AG | (self) |
| 16853659368 | NC_000015.10:22867246:AGAG:AG | NC_000015.10:22867246:AGAG:AG | (self) |
| ss4285267192, ss4984408938 | NC_000015.10:22867246::AG | NC_000015.10:22867246:AGAG:AGAGAG | (self) |
| 16853659368 | NC_000015.10:22867246:AGAG:AGAGAG | NC_000015.10:22867246:AGAG:AGAGAG | (self) |
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
No publications for rs552579436
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genomic regions, transcripts, and products
Top▲
Help
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.