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.
rs1488456248
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr3:134550086 (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
- T>G
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
- G=0.000004 (1/251014, GnomAD_exome)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- CEP63 : Synonymous Variant
- Publications
- 0 citations
- Genomic View
- See rs on genome
Help
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 | 251014 | T=0.999996 | G=0.000004 |
| gnomAD - Exomes | European | Sub | 135048 | T=1.000000 | G=0.000000 |
| gnomAD - Exomes | Asian | Sub | 48990 | T=1.00000 | G=0.00000 |
| gnomAD - Exomes | American | Sub | 34566 | T=0.99997 | G=0.00003 |
| gnomAD - Exomes | African | Sub | 16236 | T=1.00000 | G=0.00000 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 10070 | T=1.00000 | G=0.00000 |
| gnomAD - Exomes | Other | Sub | 6104 | T=1.0000 | G=0.0000 |
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 3 | NC_000003.12:g.134550086T>G |
| GRCh37.p13 chr 3 | NC_000003.11:g.134268928T>G |
| CEP63 RefSeqGene | NG_032870.1:g.69354T>G |
Gene: CEP63, centrosomal protein 63
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| CEP63 transcript variant 4 | NM_001042384.2:c.1068T>G | G [GGT] > G [GGG] | Coding Sequence Variant |
| centrosomal protein of 63 kDa isoform d | NP_001035843.1:p.Gly356= | G (Gly) > G (Gly) | Synonymous Variant |
| CEP63 transcript variant 3 | NM_001042383.2:c.1068T>G | G [GGT] > G [GGG] | Coding Sequence Variant |
| centrosomal protein of 63 kDa isoform c | NP_001035842.1:p.Gly356= | G (Gly) > G (Gly) | Synonymous Variant |
| CEP63 transcript variant 6 | NM_001353109.1:c.1068T>G | G [GGT] > G [GGG] | Coding Sequence Variant |
| centrosomal protein of 63 kDa isoform e | NP_001340038.1:p.Gly356= | G (Gly) > G (Gly) | Synonymous Variant |
| CEP63 transcript variant 7 | NM_001353110.1:c.1206T>G | G [GGT] > G [GGG] | Coding Sequence Variant |
| centrosomal protein of 63 kDa isoform b | NP_001340039.1:p.Gly402= | G (Gly) > G (Gly) | Synonymous Variant |
| CEP63 transcript variant 10 | NM_001353113.1:c.1206T>G | G [GGT] > G [GGG] | Coding Sequence Variant |
| centrosomal protein of 63 kDa isoform f | NP_001340042.1:p.Gly402= | G (Gly) > G (Gly) | Synonymous Variant |
| CEP63 transcript variant 12 | NM_001353118.1:c.1095T>G | G [GGT] > G [GGG] | Coding Sequence Variant |
| centrosomal protein of 63 kDa isoform g | NP_001340047.1:p.Gly365= | G (Gly) > G (Gly) | Synonymous Variant |
| CEP63 transcript variant 16 | NM_001353122.1:c.1068T>G | G [GGT] > G [GGG] | Coding Sequence Variant |
| centrosomal protein of 63 kDa isoform c | NP_001340051.1:p.Gly356= | G (Gly) > G (Gly) | Synonymous Variant |
| CEP63 transcript variant 5 | NM_001353108.3:c.1206T>G | G [GGT] > G [GGG] | Coding Sequence Variant |
| centrosomal protein of 63 kDa isoform a | NP_001340037.1:p.Gly402= | G (Gly) > G (Gly) | Synonymous Variant |
| CEP63 transcript variant 18 | NM_001353123.2:c.1068T>G | G [GGT] > G [GGG] | Coding Sequence Variant |
| centrosomal protein of 63 kDa isoform d | NP_001340052.1:p.Gly356= | G (Gly) > G (Gly) | Synonymous Variant |
| CEP63 transcript variant 17 | NM_001353124.2:c.1068T>G | G [GGT] > G [GGG] | Coding Sequence Variant |
| centrosomal protein of 63 kDa isoform d | NP_001340053.1:p.Gly356= | G (Gly) > G (Gly) | Synonymous Variant |
| CEP63 transcript variant 9 | NM_001353112.2:c.1206T>G | G [GGT] > G [GGG] | Coding Sequence Variant |
| centrosomal protein of 63 kDa isoform b | NP_001340041.1:p.Gly402= | G (Gly) > G (Gly) | Synonymous Variant |
| CEP63 transcript variant 2 | NM_001042400.3:c.1206T>G | G [GGT] > G [GGG] | Coding Sequence Variant |
| centrosomal protein of 63 kDa isoform b | NP_001035859.1:p.Gly402= | G (Gly) > G (Gly) | Synonymous Variant |
| CEP63 transcript variant 19 | NM_001353125.2:c.984T>G | G [GGT] > G [GGG] | Coding Sequence Variant |
| centrosomal protein of 63 kDa isoform h | NP_001340054.1:p.Gly328= | G (Gly) > G (Gly) | Synonymous Variant |
| CEP63 transcript variant 15 | NM_001353121.2:c.1068T>G | G [GGT] > G [GGG] | Coding Sequence Variant |
| centrosomal protein of 63 kDa isoform c | NP_001340050.1:p.Gly356= | G (Gly) > G (Gly) | Synonymous Variant |
| CEP63 transcript variant 8 | NM_001353111.2:c.1206T>G | G [GGT] > G [GGG] | Coding Sequence Variant |
| centrosomal protein of 63 kDa isoform b | NP_001340040.1:p.Gly402= | G (Gly) > G (Gly) | Synonymous Variant |
| CEP63 transcript variant 13 | NM_001353119.2:c.1068T>G | G [GGT] > G [GGG] | Coding Sequence Variant |
| centrosomal protein of 63 kDa isoform c | NP_001340048.1:p.Gly356= | G (Gly) > G (Gly) | Synonymous Variant |
| CEP63 transcript variant 20 | NM_001353126.2:c.705T>G | G [GGT] > G [GGG] | Coding Sequence Variant |
| centrosomal protein of 63 kDa isoform i | NP_001340055.1:p.Gly235= | G (Gly) > G (Gly) | Synonymous Variant |
| CEP63 transcript variant 1 | NM_025180.5:c.1206T>G | G [GGT] > G [GGG] | Coding Sequence Variant |
| centrosomal protein of 63 kDa isoform a | NP_079456.2:p.Gly402= | G (Gly) > G (Gly) | Synonymous Variant |
| CEP63 transcript variant 11 | NM_001353117.2:c.1206T>G | G [GGT] > G [GGG] | Coding Sequence Variant |
| centrosomal protein of 63 kDa isoform f | NP_001340046.1:p.Gly402= | G (Gly) > G (Gly) | Synonymous Variant |
| CEP63 transcript variant 14 | NM_001353120.2:c.1068T>G | G [GGT] > G [GGG] | Coding Sequence Variant |
| centrosomal protein of 63 kDa isoform c | NP_001340049.1:p.Gly356= | G (Gly) > G (Gly) | Synonymous Variant |
| CEP63 transcript variant 24 | NR_148355.1:n.1422T>G | N/A | Non Coding Transcript Variant |
| CEP63 transcript variant 21 | NR_148352.2:n.1593T>G | N/A | Non Coding Transcript Variant |
| CEP63 transcript variant 22 | NR_148353.2:n.1593T>G | N/A | Non Coding Transcript Variant |
| CEP63 transcript variant 23 | NR_148354.2:n.1727T>G | N/A | Non Coding Transcript Variant |
| CEP63 transcript variant X1 | XM_024453768.2:c.1239T>G | G [GGT] > G [GGG] | Coding Sequence Variant |
| centrosomal protein of 63 kDa isoform X1 | XP_024309536.1:p.Gly413= | G (Gly) > G (Gly) | Synonymous Variant |
| CEP63 transcript variant X2 | XM_005247795.6:c.1233T>G | G [GGT] > G [GGG] | Coding Sequence Variant |
| centrosomal protein of 63 kDa isoform X2 | XP_005247852.1:p.Gly411= | G (Gly) > G (Gly) | Synonymous Variant |
| CEP63 transcript variant X3 | XM_006713760.5:c.1206T>G | G [GGT] > G [GGG] | Coding Sequence Variant |
| centrosomal protein of 63 kDa isoform X3 | XP_006713823.1:p.Gly402= | G (Gly) > G (Gly) | Synonymous Variant |
| CEP63 transcript variant X4 | XM_005247797.4:c.1206T>G | G [GGT] > G [GGG] | Coding Sequence Variant |
| centrosomal protein of 63 kDa isoform X3 | XP_005247854.1:p.Gly402= | G (Gly) > G (Gly) | Synonymous Variant |
| CEP63 transcript variant X5 | XM_047448996.1:c.1206T>G | G [GGT] > G [GGG] | Coding Sequence Variant |
| centrosomal protein of 63 kDa isoform X3 | XP_047304952.1:p.Gly402= | G (Gly) > G (Gly) | Synonymous Variant |
| CEP63 transcript variant X6 | XM_024453769.2:c.1122T>G | G [GGT] > G [GGG] | Coding Sequence Variant |
| centrosomal protein of 63 kDa isoform X4 | XP_024309537.1:p.Gly374= | G (Gly) > G (Gly) | Synonymous Variant |
| CEP63 transcript variant X7 | XM_024453771.2:c.1122T>G | G [GGT] > G [GGG] | Coding Sequence Variant |
| centrosomal protein of 63 kDa isoform X4 | XP_024309539.1:p.Gly374= | G (Gly) > G (Gly) | Synonymous Variant |
| CEP63 transcript variant X8 | XM_047448998.1:c.1101T>G | G [GGT] > G [GGG] | Coding Sequence Variant |
| centrosomal protein of 63 kDa isoform X5 | XP_047304954.1:p.Gly367= | G (Gly) > G (Gly) | Synonymous Variant |
| CEP63 transcript variant X9 | XM_047448999.1:c.1095T>G | G [GGT] > G [GGG] | Coding Sequence Variant |
| centrosomal protein of 63 kDa isoform X6 | XP_047304955.1:p.Gly365= | G (Gly) > G (Gly) | Synonymous Variant |
| CEP63 transcript variant X10 | XM_017007247.3:c.1068T>G | G [GGT] > G [GGG] | Coding Sequence Variant |
| centrosomal protein of 63 kDa isoform X7 | XP_016862736.1:p.Gly356= | G (Gly) > G (Gly) | Synonymous Variant |
| CEP63 transcript variant X11 | XM_017007248.3:c.1068T>G | G [GGT] > G [GGG] | Coding Sequence Variant |
| centrosomal protein of 63 kDa isoform X7 | XP_016862737.1:p.Gly356= | G (Gly) > G (Gly) | Synonymous Variant |
| CEP63 transcript variant X12 | XM_017007249.2:c.1068T>G | G [GGT] > G [GGG] | Coding Sequence Variant |
| centrosomal protein of 63 kDa isoform X7 | XP_016862738.1:p.Gly356= | G (Gly) > G (Gly) | Synonymous Variant |
| CEP63 transcript variant X13 | XM_024453772.2:c.1122T>G | G [GGT] > G [GGG] | Coding Sequence Variant |
| centrosomal protein of 63 kDa isoform X8 | XP_024309540.1:p.Gly374= | G (Gly) > G (Gly) | Synonymous Variant |
| CEP63 transcript variant X14 | XM_047449000.1:c.984T>G | G [GGT] > G [GGG] | Coding Sequence Variant |
| centrosomal protein of 63 kDa isoform X9 | XP_047304956.1:p.Gly328= | G (Gly) > G (Gly) | Synonymous Variant |
| CEP63 transcript variant X15 | XM_047449001.1:c.984T>G | G [GGT] > G [GGG] | Coding Sequence Variant |
| centrosomal protein of 63 kDa isoform X9 | XP_047304957.1:p.Gly328= | G (Gly) > G (Gly) | Synonymous Variant |
| CEP63 transcript variant X16 | XM_047449002.1:c.1206T>G | G [GGT] > G [GGG] | Coding Sequence Variant |
| centrosomal protein of 63 kDa isoform X10 | XP_047304958.1:p.Gly402= | G (Gly) > G (Gly) | Synonymous Variant |
| CEP63 transcript variant X17 | XM_047449003.1:c.1206T>G | G [GGT] > G [GGG] | Coding Sequence Variant |
| centrosomal protein of 63 kDa isoform X10 | XP_047304959.1:p.Gly402= | G (Gly) > G (Gly) | Synonymous Variant |
| CEP63 transcript variant X18 | XM_047449005.1:c.1206T>G | G [GGT] > G [GGG] | Coding Sequence Variant |
| centrosomal protein of 63 kDa isoform X10 | XP_047304961.1:p.Gly402= | G (Gly) > G (Gly) | Synonymous Variant |
| CEP63 transcript variant X19 | XM_047449006.1:c.1101T>G | G [GGT] > G [GGG] | Coding Sequence Variant |
| centrosomal protein of 63 kDa isoform X11 | XP_047304962.1:p.Gly367= | G (Gly) > G (Gly) | Synonymous Variant |
| CEP63 transcript variant X20 | XM_047449007.1:c.1068T>G | G [GGT] > G [GGG] | Coding Sequence Variant |
| centrosomal protein of 63 kDa isoform X12 | XP_047304963.1:p.Gly356= | G (Gly) > G (Gly) | Synonymous Variant |
| CEP63 transcript variant X21 | XM_047449008.1:c.1068T>G | G [GGT] > G [GGG] | Coding Sequence Variant |
| centrosomal protein of 63 kDa isoform X12 | XP_047304964.1:p.Gly356= | G (Gly) > G (Gly) | Synonymous Variant |
| CEP63 transcript variant X22 | XM_047449009.1:c.1068T>G | G [GGT] > G [GGG] | Coding Sequence Variant |
| centrosomal protein of 63 kDa isoform X12 | XP_047304965.1:p.Gly356= | G (Gly) > G (Gly) | Synonymous Variant |
| CEP63 transcript variant X23 | XM_047449010.1:c.1233T>G | G [GGT] > G [GGG] | Coding Sequence Variant |
| centrosomal protein of 63 kDa isoform X13 | XP_047304966.1:p.Gly411= | G (Gly) > G (Gly) | Synonymous Variant |
| CEP63 transcript variant X24 | XM_047449011.1:c.984T>G | G [GGT] > G [GGG] | Coding Sequence Variant |
| centrosomal protein of 63 kDa isoform X14 | XP_047304967.1:p.Gly328= | G (Gly) > G (Gly) | Synonymous Variant |
| CEP63 transcript variant X28 | XM_024453777.2:c.1233T>G | G [GGT] > G [GGG] | Coding Sequence Variant |
| centrosomal protein of 63 kDa isoform X15 | XP_024309545.2:p.Gly411= | G (Gly) > G (Gly) | Synonymous Variant |
| CEP63 transcript variant X31 | XM_047449013.1:c.1122T>G | G [GGT] > G [GGG] | Coding Sequence Variant |
| centrosomal protein of 63 kDa isoform X16 | XP_047304969.1:p.Gly374= | G (Gly) > G (Gly) | Synonymous Variant |
| CEP63 transcript variant X32 | XM_047449014.1:c.1122T>G | G [GGT] > G [GGG] | Coding Sequence Variant |
| centrosomal protein of 63 kDa isoform X17 | XP_047304970.1:p.Gly374= | G (Gly) > G (Gly) | Synonymous Variant |
| CEP63 transcript variant X33 | XM_047449015.1:c.1206T>G | G [GGT] > G [GGG] | Coding Sequence Variant |
| centrosomal protein of 63 kDa isoform X18 | XP_047304971.1:p.Gly402= | G (Gly) > G (Gly) | Synonymous Variant |
| CEP63 transcript variant X37 | XM_024453778.2:c.984T>G | G [GGT] > G [GGG] | Coding Sequence Variant |
| centrosomal protein of 63 kDa isoform X19 | XP_024309546.1:p.Gly328= | G (Gly) > G (Gly) | Synonymous Variant |
| CEP63 transcript variant X25 | XR_007095729.1:n.1227T>G | N/A | Non Coding Transcript Variant |
| CEP63 transcript variant X26 | XR_007095730.1:n.1227T>G | N/A | Non Coding Transcript Variant |
| CEP63 transcript variant X27 | XR_007095731.1:n.1227T>G | N/A | Non Coding Transcript Variant |
| CEP63 transcript variant X29 | XR_007095732.1:n.1332T>G | N/A | Non Coding Transcript Variant |
| CEP63 transcript variant X30 | XR_007095733.1:n.1731T>G | N/A | Non Coding Transcript Variant |
| CEP63 transcript variant X34 | XR_007095734.1:n.1403T>G | N/A | Non Coding Transcript Variant |
| CEP63 transcript variant X35 | XR_002959589.2:n.1194T>G | N/A | Non Coding Transcript Variant |
| CEP63 transcript variant X36 | XR_007095735.1:n.1239T>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 | T= | G |
|---|---|---|
| GRCh38.p14 chr 3 | NC_000003.12:g.134550086= | NC_000003.12:g.134550086T>G |
| GRCh37.p13 chr 3 | NC_000003.11:g.134268928= | NC_000003.11:g.134268928T>G |
| CEP63 RefSeqGene | NG_032870.1:g.69354= | NG_032870.1:g.69354T>G |
| CEP63 transcript variant 1 | NM_025180.5:c.1206= | NM_025180.5:c.1206T>G |
| CEP63 transcript variant 1 | NM_025180.4:c.1206= | NM_025180.4:c.1206T>G |
| CEP63 transcript variant 1 | NM_025180.3:c.1206= | NM_025180.3:c.1206T>G |
| CEP63 transcript variant 5 | NM_001353108.3:c.1206= | NM_001353108.3:c.1206T>G |
| CEP63 transcript variant 5 | NM_001353108.2:c.1206= | NM_001353108.2:c.1206T>G |
| CEP63 transcript variant 5 | NM_001353108.1:c.1206= | NM_001353108.1:c.1206T>G |
| CEP63 transcript variant 2 | NM_001042400.3:c.1206= | NM_001042400.3:c.1206T>G |
| CEP63 transcript variant 2 | NM_001042400.2:c.1206= | NM_001042400.2:c.1206T>G |
| CEP63 transcript variant 2 | NM_001042400.1:c.1206= | NM_001042400.1:c.1206T>G |
| CEP63 transcript variant 21 | NR_148352.2:n.1593= | NR_148352.2:n.1593T>G |
| CEP63 transcript variant 21 | NR_148352.1:n.1477= | NR_148352.1:n.1477T>G |
| CEP63 transcript variant 9 | NM_001353112.2:c.1206= | NM_001353112.2:c.1206T>G |
| CEP63 transcript variant 9 | NM_001353112.1:c.1206= | NM_001353112.1:c.1206T>G |
| CEP63 transcript variant 22 | NR_148353.2:n.1593= | NR_148353.2:n.1593T>G |
| CEP63 transcript variant 22 | NR_148353.1:n.1477= | NR_148353.1:n.1477T>G |
| CEP63 transcript variant 8 | NM_001353111.2:c.1206= | NM_001353111.2:c.1206T>G |
| CEP63 transcript variant 8 | NM_001353111.1:c.1206= | NM_001353111.1:c.1206T>G |
| CEP63 transcript variant 23 | NR_148354.2:n.1727= | NR_148354.2:n.1727T>G |
| CEP63 transcript variant 23 | NR_148354.1:n.1611= | NR_148354.1:n.1611T>G |
| CEP63 transcript variant 20 | NM_001353126.2:c.705= | NM_001353126.2:c.705T>G |
| CEP63 transcript variant 20 | NM_001353126.1:c.705= | NM_001353126.1:c.705T>G |
| CEP63 transcript variant 15 | NM_001353121.2:c.1068= | NM_001353121.2:c.1068T>G |
| CEP63 transcript variant 15 | NM_001353121.1:c.1068= | NM_001353121.1:c.1068T>G |
| CEP63 transcript variant 13 | NM_001353119.2:c.1068= | NM_001353119.2:c.1068T>G |
| CEP63 transcript variant 13 | NM_001353119.1:c.1068= | NM_001353119.1:c.1068T>G |
| CEP63 transcript variant 19 | NM_001353125.2:c.984= | NM_001353125.2:c.984T>G |
| CEP63 transcript variant 19 | NM_001353125.1:c.984= | NM_001353125.1:c.984T>G |
| CEP63 transcript variant 3 | NM_001042383.2:c.1068= | NM_001042383.2:c.1068T>G |
| CEP63 transcript variant 3 | NM_001042383.1:c.1068= | NM_001042383.1:c.1068T>G |
| CEP63 transcript variant 14 | NM_001353120.2:c.1068= | NM_001353120.2:c.1068T>G |
| CEP63 transcript variant 14 | NM_001353120.1:c.1068= | NM_001353120.1:c.1068T>G |
| CEP63 transcript variant 17 | NM_001353124.2:c.1068= | NM_001353124.2:c.1068T>G |
| CEP63 transcript variant 17 | NM_001353124.1:c.1068= | NM_001353124.1:c.1068T>G |
| CEP63 transcript variant 4 | NM_001042384.2:c.1068= | NM_001042384.2:c.1068T>G |
| CEP63 transcript variant 4 | NM_001042384.1:c.1068= | NM_001042384.1:c.1068T>G |
| CEP63 transcript variant 11 | NM_001353117.2:c.1206= | NM_001353117.2:c.1206T>G |
| CEP63 transcript variant 11 | NM_001353117.1:c.1206= | NM_001353117.1:c.1206T>G |
| CEP63 transcript variant 18 | NM_001353123.2:c.1068= | NM_001353123.2:c.1068T>G |
| CEP63 transcript variant 18 | NM_001353123.1:c.1068= | NM_001353123.1:c.1068T>G |
| CEP63 transcript variant 6 | NM_001353109.1:c.1068= | NM_001353109.1:c.1068T>G |
| CEP63 transcript variant 24 | NR_148355.1:n.1422= | NR_148355.1:n.1422T>G |
| CEP63 transcript variant 7 | NM_001353110.1:c.1206= | NM_001353110.1:c.1206T>G |
| CEP63 transcript variant 16 | NM_001353122.1:c.1068= | NM_001353122.1:c.1068T>G |
| CEP63 transcript variant 12 | NM_001353118.1:c.1095= | NM_001353118.1:c.1095T>G |
| CEP63 transcript variant 10 | NM_001353113.1:c.1206= | NM_001353113.1:c.1206T>G |
| CEP63 transcript variant X2 | XM_005247795.6:c.1233= | XM_005247795.6:c.1233T>G |
| CEP63 transcript variant X2 | XM_005247795.5:c.1233= | XM_005247795.5:c.1233T>G |
| CEP63 transcript variant X2 | XM_005247795.4:c.1233= | XM_005247795.4:c.1233T>G |
| CEP63 transcript variant X2 | XM_005247795.3:c.1233= | XM_005247795.3:c.1233T>G |
| CEP63 transcript variant X1 | XM_005247795.2:c.1233= | XM_005247795.2:c.1233T>G |
| CEP63 transcript variant X1 | XM_005247795.1:c.1233= | XM_005247795.1:c.1233T>G |
| CEP63 transcript variant X3 | XM_006713760.5:c.1206= | XM_006713760.5:c.1206T>G |
| CEP63 transcript variant X3 | XM_006713760.4:c.1206= | XM_006713760.4:c.1206T>G |
| CEP63 transcript variant X3 | XM_006713760.3:c.1206= | XM_006713760.3:c.1206T>G |
| CEP63 transcript variant X4 | XM_006713760.2:c.1206= | XM_006713760.2:c.1206T>G |
| CEP63 transcript variant X7 | XM_006713760.1:c.1206= | XM_006713760.1:c.1206T>G |
| CEP63 transcript variant X4 | XM_005247797.4:c.1206= | XM_005247797.4:c.1206T>G |
| CEP63 transcript variant X4 | XM_005247797.3:c.1206= | XM_005247797.3:c.1206T>G |
| CEP63 transcript variant X5 | XM_005247797.2:c.1206= | XM_005247797.2:c.1206T>G |
| CEP63 transcript variant X3 | XM_005247797.1:c.1206= | XM_005247797.1:c.1206T>G |
| CEP63 transcript variant X11 | XM_017007248.3:c.1068= | XM_017007248.3:c.1068T>G |
| CEP63 transcript variant X8 | XM_017007248.2:c.1068= | XM_017007248.2:c.1068T>G |
| CEP63 transcript variant X9 | XM_017007248.1:c.1068= | XM_017007248.1:c.1068T>G |
| CEP63 transcript variant X10 | XM_017007247.3:c.1068= | XM_017007247.3:c.1068T>G |
| CEP63 transcript variant X7 | XM_017007247.2:c.1068= | XM_017007247.2:c.1068T>G |
| CEP63 transcript variant X8 | XM_017007247.1:c.1068= | XM_017007247.1:c.1068T>G |
| CEP63 transcript variant X35 | XR_002959589.2:n.1194= | XR_002959589.2:n.1194T>G |
| CEP63 transcript variant X22 | XR_002959589.1:n.1122= | XR_002959589.1:n.1122T>G |
| CEP63 transcript variant X12 | XM_017007249.2:c.1068= | XM_017007249.2:c.1068T>G |
| CEP63 transcript variant X9 | XM_017007249.1:c.1068= | XM_017007249.1:c.1068T>G |
| CEP63 transcript variant X1 | XM_024453768.2:c.1239= | XM_024453768.2:c.1239T>G |
| CEP63 transcript variant X1 | XM_024453768.1:c.1239= | XM_024453768.1:c.1239T>G |
| CEP63 transcript variant X6 | XM_024453769.2:c.1122= | XM_024453769.2:c.1122T>G |
| CEP63 transcript variant X5 | XM_024453769.1:c.1122= | XM_024453769.1:c.1122T>G |
| CEP63 transcript variant X7 | XM_024453771.2:c.1122= | XM_024453771.2:c.1122T>G |
| CEP63 transcript variant X10 | XM_024453771.1:c.1122= | XM_024453771.1:c.1122T>G |
| CEP63 transcript variant X13 | XM_024453772.2:c.1122= | XM_024453772.2:c.1122T>G |
| CEP63 transcript variant X11 | XM_024453772.1:c.1122= | XM_024453772.1:c.1122T>G |
| CEP63 transcript variant X37 | XM_024453778.2:c.984= | XM_024453778.2:c.984T>G |
| CEP63 transcript variant X24 | XM_024453778.1:c.984= | XM_024453778.1:c.984T>G |
| CEP63 transcript variant X28 | XM_024453777.2:c.1233= | XM_024453777.2:c.1233T>G |
| CEP63 transcript variant X18 | XM_024453777.1:c.1122= | XM_024453777.1:c.1122T>G |
| CEP63 transcript variant X34 | XR_007095734.1:n.1403= | XR_007095734.1:n.1403T>G |
| CEP63 transcript variant X29 | XR_007095732.1:n.1332= | XR_007095732.1:n.1332T>G |
| CEP63 transcript variant X36 | XR_007095735.1:n.1239= | XR_007095735.1:n.1239T>G |
| CEP63 transcript variant X26 | XR_007095730.1:n.1227= | XR_007095730.1:n.1227T>G |
| CEP63 transcript variant X30 | XR_007095733.1:n.1731= | XR_007095733.1:n.1731T>G |
| CEP63 transcript variant X18 | XM_047449005.1:c.1206= | XM_047449005.1:c.1206T>G |
| CEP63 transcript variant X14 | XM_047449000.1:c.984= | XM_047449000.1:c.984T>G |
| CEP63 transcript variant X21 | XM_047449008.1:c.1068= | XM_047449008.1:c.1068T>G |
| CEP63 transcript variant X8 | XM_047448998.1:c.1101= | XM_047448998.1:c.1101T>G |
| CEP63 transcript variant X19 | XM_047449006.1:c.1101= | XM_047449006.1:c.1101T>G |
| CEP63 transcript variant X17 | XM_047449003.1:c.1206= | XM_047449003.1:c.1206T>G |
| CEP63 transcript variant X5 | XM_047448996.1:c.1206= | XM_047448996.1:c.1206T>G |
| CEP63 transcript variant X15 | XM_047449001.1:c.984= | XM_047449001.1:c.984T>G |
| CEP63 transcript variant X16 | XM_047449002.1:c.1206= | XM_047449002.1:c.1206T>G |
| CEP63 transcript variant X9 | XM_047448999.1:c.1095= | XM_047448999.1:c.1095T>G |
| CEP63 transcript variant X22 | XM_047449009.1:c.1068= | XM_047449009.1:c.1068T>G |
| CEP63 transcript variant X24 | XM_047449011.1:c.984= | XM_047449011.1:c.984T>G |
| CEP63 transcript variant X20 | XM_047449007.1:c.1068= | XM_047449007.1:c.1068T>G |
| CEP63 transcript variant X31 | XM_047449013.1:c.1122= | XM_047449013.1:c.1122T>G |
| CEP63 transcript variant X23 | XM_047449010.1:c.1233= | XM_047449010.1:c.1233T>G |
| CEP63 transcript variant X27 | XR_007095731.1:n.1227= | XR_007095731.1:n.1227T>G |
| CEP63 transcript variant X25 | XR_007095729.1:n.1227= | XR_007095729.1:n.1227T>G |
| CEP63 transcript variant X33 | XM_047449015.1:c.1206= | XM_047449015.1:c.1206T>G |
| CEP63 transcript variant X32 | XM_047449014.1:c.1122= | XM_047449014.1:c.1122T>G |
| centrosomal protein of 63 kDa isoform a | NP_079456.2:p.Gly402= | NP_079456.2:p.Gly402= |
| centrosomal protein of 63 kDa isoform a | NP_001340037.1:p.Gly402= | NP_001340037.1:p.Gly402= |
| centrosomal protein of 63 kDa isoform b | NP_001035859.1:p.Gly402= | NP_001035859.1:p.Gly402= |
| centrosomal protein of 63 kDa isoform b | NP_001340041.1:p.Gly402= | NP_001340041.1:p.Gly402= |
| centrosomal protein of 63 kDa isoform b | NP_001340040.1:p.Gly402= | NP_001340040.1:p.Gly402= |
| centrosomal protein of 63 kDa isoform i | NP_001340055.1:p.Gly235= | NP_001340055.1:p.Gly235= |
| centrosomal protein of 63 kDa isoform c | NP_001340050.1:p.Gly356= | NP_001340050.1:p.Gly356= |
| centrosomal protein of 63 kDa isoform c | NP_001340048.1:p.Gly356= | NP_001340048.1:p.Gly356= |
| centrosomal protein of 63 kDa isoform h | NP_001340054.1:p.Gly328= | NP_001340054.1:p.Gly328= |
| centrosomal protein of 63 kDa isoform c | NP_001035842.1:p.Gly356= | NP_001035842.1:p.Gly356= |
| centrosomal protein of 63 kDa isoform c | NP_001340049.1:p.Gly356= | NP_001340049.1:p.Gly356= |
| centrosomal protein of 63 kDa isoform d | NP_001340053.1:p.Gly356= | NP_001340053.1:p.Gly356= |
| centrosomal protein of 63 kDa isoform d | NP_001035843.1:p.Gly356= | NP_001035843.1:p.Gly356= |
| centrosomal protein of 63 kDa isoform f | NP_001340046.1:p.Gly402= | NP_001340046.1:p.Gly402= |
| centrosomal protein of 63 kDa isoform d | NP_001340052.1:p.Gly356= | NP_001340052.1:p.Gly356= |
| centrosomal protein of 63 kDa isoform e | NP_001340038.1:p.Gly356= | NP_001340038.1:p.Gly356= |
| centrosomal protein of 63 kDa isoform b | NP_001340039.1:p.Gly402= | NP_001340039.1:p.Gly402= |
| centrosomal protein of 63 kDa isoform c | NP_001340051.1:p.Gly356= | NP_001340051.1:p.Gly356= |
| centrosomal protein of 63 kDa isoform g | NP_001340047.1:p.Gly365= | NP_001340047.1:p.Gly365= |
| centrosomal protein of 63 kDa isoform f | NP_001340042.1:p.Gly402= | NP_001340042.1:p.Gly402= |
| centrosomal protein of 63 kDa isoform X2 | XP_005247852.1:p.Gly411= | XP_005247852.1:p.Gly411= |
| centrosomal protein of 63 kDa isoform X3 | XP_006713823.1:p.Gly402= | XP_006713823.1:p.Gly402= |
| centrosomal protein of 63 kDa isoform X3 | XP_005247854.1:p.Gly402= | XP_005247854.1:p.Gly402= |
| centrosomal protein of 63 kDa isoform X7 | XP_016862737.1:p.Gly356= | XP_016862737.1:p.Gly356= |
| centrosomal protein of 63 kDa isoform X7 | XP_016862736.1:p.Gly356= | XP_016862736.1:p.Gly356= |
| centrosomal protein of 63 kDa isoform X7 | XP_016862738.1:p.Gly356= | XP_016862738.1:p.Gly356= |
| centrosomal protein of 63 kDa isoform X1 | XP_024309536.1:p.Gly413= | XP_024309536.1:p.Gly413= |
| centrosomal protein of 63 kDa isoform X4 | XP_024309537.1:p.Gly374= | XP_024309537.1:p.Gly374= |
| centrosomal protein of 63 kDa isoform X4 | XP_024309539.1:p.Gly374= | XP_024309539.1:p.Gly374= |
| centrosomal protein of 63 kDa isoform X8 | XP_024309540.1:p.Gly374= | XP_024309540.1:p.Gly374= |
| centrosomal protein of 63 kDa isoform X19 | XP_024309546.1:p.Gly328= | XP_024309546.1:p.Gly328= |
| centrosomal protein of 63 kDa isoform X15 | XP_024309545.2:p.Gly411= | XP_024309545.2:p.Gly411= |
| centrosomal protein of 63 kDa isoform X10 | XP_047304961.1:p.Gly402= | XP_047304961.1:p.Gly402= |
| centrosomal protein of 63 kDa isoform X9 | XP_047304956.1:p.Gly328= | XP_047304956.1:p.Gly328= |
| centrosomal protein of 63 kDa isoform X12 | XP_047304964.1:p.Gly356= | XP_047304964.1:p.Gly356= |
| centrosomal protein of 63 kDa isoform X5 | XP_047304954.1:p.Gly367= | XP_047304954.1:p.Gly367= |
| centrosomal protein of 63 kDa isoform X11 | XP_047304962.1:p.Gly367= | XP_047304962.1:p.Gly367= |
| centrosomal protein of 63 kDa isoform X10 | XP_047304959.1:p.Gly402= | XP_047304959.1:p.Gly402= |
| centrosomal protein of 63 kDa isoform X3 | XP_047304952.1:p.Gly402= | XP_047304952.1:p.Gly402= |
| centrosomal protein of 63 kDa isoform X9 | XP_047304957.1:p.Gly328= | XP_047304957.1:p.Gly328= |
| centrosomal protein of 63 kDa isoform X10 | XP_047304958.1:p.Gly402= | XP_047304958.1:p.Gly402= |
| centrosomal protein of 63 kDa isoform X6 | XP_047304955.1:p.Gly365= | XP_047304955.1:p.Gly365= |
| centrosomal protein of 63 kDa isoform X12 | XP_047304965.1:p.Gly356= | XP_047304965.1:p.Gly356= |
| centrosomal protein of 63 kDa isoform X14 | XP_047304967.1:p.Gly328= | XP_047304967.1:p.Gly328= |
| centrosomal protein of 63 kDa isoform X12 | XP_047304963.1:p.Gly356= | XP_047304963.1:p.Gly356= |
| centrosomal protein of 63 kDa isoform X16 | XP_047304969.1:p.Gly374= | XP_047304969.1:p.Gly374= |
| centrosomal protein of 63 kDa isoform X13 | XP_047304966.1:p.Gly411= | XP_047304966.1:p.Gly411= |
| centrosomal protein of 63 kDa isoform X18 | XP_047304971.1:p.Gly402= | XP_047304971.1:p.Gly402= |
| centrosomal protein of 63 kDa isoform X17 | XP_047304970.1:p.Gly374= | XP_047304970.1:p.Gly374= |
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#.
1 SubSNP,
1 Frequency
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | GNOMAD | ss2734091281 | Nov 08, 2017 (151) |
| 2 | gnomAD - Exomes | NC_000003.11 - 134268928 | Jul 13, 2019 (153) |
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 rs1488456248
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.