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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.

rs1488626915

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:118465533 (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
G>C
Variation Type
SNV Single Nucleotide Variation
Frequency
None
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CEP85L : Missense Variant
LOC105377971 : 2KB Upstream 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").

None
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 6 NC_000006.12:g.118465533G>C
GRCh37.p13 chr 6 NC_000006.11:g.118786696G>C
CEP85L RefSeqGene NG_021248.1:g.249543C>G
Gene: CEP85L, centrosomal protein 85 like (minus strand)
Molecule type Change Amino acid[Codon] SO Term
CEP85L transcript variant 2 NM_206921.3:c. N/A Genic Downstream Transcript Variant
CEP85L transcript variant 1 NM_001042475.3:c.2290C>G H [CAC] > D [GAC] Coding Sequence Variant
centrosomal protein of 85 kDa-like isoform a NP_001035940.1:p.His764Asp H (His) > D (Asp) Missense Variant
CEP85L transcript variant 3 NM_001178035.2:c.2299C>G H [CAC] > D [GAC] Coding Sequence Variant
centrosomal protein of 85 kDa-like isoform c NP_001171506.1:p.His767Asp H (His) > D (Asp) Missense Variant
CEP85L transcript variant X1 XM_017010846.2:c.2299C>G H [CAC] > D [GAC] Coding Sequence Variant
centrosomal protein of 85 kDa-like isoform X1 XP_016866335.1:p.His767Asp H (His) > D (Asp) Missense Variant
CEP85L transcript variant X2 XM_047418758.1:c.2299C>G H [CAC] > D [GAC] Coding Sequence Variant
centrosomal protein of 85 kDa-like isoform X1 XP_047274714.1:p.His767Asp H (His) > D (Asp) Missense Variant
CEP85L transcript variant X3 XM_047418759.1:c.2299C>G H [CAC] > D [GAC] Coding Sequence Variant
centrosomal protein of 85 kDa-like isoform X1 XP_047274715.1:p.His767Asp H (His) > D (Asp) Missense Variant
CEP85L transcript variant X4 XM_047418760.1:c.2299C>G H [CAC] > D [GAC] Coding Sequence Variant
centrosomal protein of 85 kDa-like isoform X1 XP_047274716.1:p.His767Asp H (His) > D (Asp) Missense Variant
CEP85L transcript variant X5 XM_011535810.3:c.2119C>G H [CAC] > D [GAC] Coding Sequence Variant
centrosomal protein of 85 kDa-like isoform X2 XP_011534112.1:p.His707Asp H (His) > D (Asp) Missense Variant
CEP85L transcript variant X6 XM_047418761.1:c.2110C>G H [CAC] > D [GAC] Coding Sequence Variant
centrosomal protein of 85 kDa-like isoform X3 XP_047274717.1:p.His704Asp H (His) > D (Asp) Missense Variant
CEP85L transcript variant X7 XM_005266970.2:c.1984C>G H [CAC] > D [GAC] Coding Sequence Variant
centrosomal protein of 85 kDa-like isoform X4 XP_005267027.1:p.His662Asp H (His) > D (Asp) Missense Variant
CEP85L transcript variant X8 XM_011535811.2:c.1984C>G H [CAC] > D [GAC] Coding Sequence Variant
centrosomal protein of 85 kDa-like isoform X4 XP_011534113.1:p.His662Asp H (His) > D (Asp) Missense Variant
CEP85L transcript variant X9 XM_005266971.2:c.1984C>G H [CAC] > D [GAC] Coding Sequence Variant
centrosomal protein of 85 kDa-like isoform X4 XP_005267028.1:p.His662Asp H (His) > D (Asp) Missense Variant
CEP85L transcript variant X10 XM_005266972.5:c.1204C>G H [CAC] > D [GAC] Coding Sequence Variant
centrosomal protein of 85 kDa-like isoform X5 XP_005267029.1:p.His402Asp H (His) > D (Asp) Missense Variant
CEP85L transcript variant X11 XM_047418762.1:c.1204C>G H [CAC] > D [GAC] Coding Sequence Variant
centrosomal protein of 85 kDa-like isoform X5 XP_047274718.1:p.His402Asp H (His) > D (Asp) Missense Variant
Gene: LOC105377971, uncharacterized LOC105377971 (plus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
LOC105377971 transcript variant X1 XR_001743822.3:n. N/A Upstream Transcript Variant
LOC105377971 transcript variant X3 XR_001743823.3:n. N/A Upstream Transcript Variant
LOC105377971 transcript variant X2 XR_001743824.3:n. N/A Upstream 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 G= C
GRCh38.p14 chr 6 NC_000006.12:g.118465533= NC_000006.12:g.118465533G>C
GRCh37.p13 chr 6 NC_000006.11:g.118786696= NC_000006.11:g.118786696G>C
CEP85L RefSeqGene NG_021248.1:g.249543= NG_021248.1:g.249543C>G
CEP85L transcript variant 1 NM_001042475.3:c.2290= NM_001042475.3:c.2290C>G
CEP85L transcript variant 1 NM_001042475.2:c.2290= NM_001042475.2:c.2290C>G
CEP85L transcript variant 3 NM_001178035.2:c.2299= NM_001178035.2:c.2299C>G
CEP85L transcript variant 3 NM_001178035.1:c.2299= NM_001178035.1:c.2299C>G
CEP85L transcript variant X10 XM_005266972.5:c.1204= XM_005266972.5:c.1204C>G
CEP85L transcript variant X10 XM_005266972.4:c.1204= XM_005266972.4:c.1204C>G
CEP85L transcript variant X8 XM_005266972.3:c.1204= XM_005266972.3:c.1204C>G
CEP85L transcript variant X3 XM_005266972.2:c.1204= XM_005266972.2:c.1204C>G
CEP85L transcript variant X3 XM_005266972.1:c.1204= XM_005266972.1:c.1204C>G
CEP85L transcript variant X5 XM_011535810.3:c.2119= XM_011535810.3:c.2119C>G
CEP85L transcript variant X4 XM_011535810.2:c.2119= XM_011535810.2:c.2119C>G
CEP85L transcript variant X3 XM_011535810.1:c.2119= XM_011535810.1:c.2119C>G
CEP85L transcript variant X7 XM_005266970.2:c.1984= XM_005266970.2:c.1984C>G
CEP85L transcript variant X6 XM_005266970.1:c.1984= XM_005266970.1:c.1984C>G
CEP85L transcript variant X9 XM_005266971.2:c.1984= XM_005266971.2:c.1984C>G
CEP85L transcript variant X9 XM_005266971.1:c.1984= XM_005266971.1:c.1984C>G
CEP85L transcript variant X1 XM_017010846.2:c.2299= XM_017010846.2:c.2299C>G
CEP85L transcript variant X1 XM_017010846.1:c.2299= XM_017010846.1:c.2299C>G
CEP85L transcript variant X8 XM_011535811.2:c.1984= XM_011535811.2:c.1984C>G
CEP85L transcript variant X8 XM_011535811.1:c.1984= XM_011535811.1:c.1984C>G
CEP85L transcript variant X4 XM_047418760.1:c.2299= XM_047418760.1:c.2299C>G
CEP85L transcript variant X2 XM_047418758.1:c.2299= XM_047418758.1:c.2299C>G
CEP85L transcript variant X3 XM_047418759.1:c.2299= XM_047418759.1:c.2299C>G
CEP85L transcript variant X6 XM_047418761.1:c.2110= XM_047418761.1:c.2110C>G
CEP85L transcript variant X11 XM_047418762.1:c.1204= XM_047418762.1:c.1204C>G
centrosomal protein of 85 kDa-like isoform a NP_001035940.1:p.His764= NP_001035940.1:p.His764Asp
centrosomal protein of 85 kDa-like isoform c NP_001171506.1:p.His767= NP_001171506.1:p.His767Asp
centrosomal protein of 85 kDa-like isoform X5 XP_005267029.1:p.His402= XP_005267029.1:p.His402Asp
centrosomal protein of 85 kDa-like isoform X2 XP_011534112.1:p.His707= XP_011534112.1:p.His707Asp
centrosomal protein of 85 kDa-like isoform X4 XP_005267027.1:p.His662= XP_005267027.1:p.His662Asp
centrosomal protein of 85 kDa-like isoform X4 XP_005267028.1:p.His662= XP_005267028.1:p.His662Asp
centrosomal protein of 85 kDa-like isoform X1 XP_016866335.1:p.His767= XP_016866335.1:p.His767Asp
centrosomal protein of 85 kDa-like isoform X4 XP_011534113.1:p.His662= XP_011534113.1:p.His662Asp
centrosomal protein of 85 kDa-like isoform X1 XP_047274716.1:p.His767= XP_047274716.1:p.His767Asp
centrosomal protein of 85 kDa-like isoform X1 XP_047274714.1:p.His767= XP_047274714.1:p.His767Asp
centrosomal protein of 85 kDa-like isoform X1 XP_047274715.1:p.His767= XP_047274715.1:p.His767Asp
centrosomal protein of 85 kDa-like isoform X3 XP_047274717.1:p.His704= XP_047274717.1:p.His704Asp
centrosomal protein of 85 kDa-like isoform X5 XP_047274718.1:p.His402= XP_047274718.1:p.His402Asp
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 submission
No Submitter Submission ID Date (Build)
1 GNOMAD ss2736031308 Nov 08, 2017 (151)
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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss2736031308 NC_000006.11:118786695:G:C NC_000006.12:118465532:G:C (self)
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 rs1488626915

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
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.

Software version is: 2.0.1.post820+afb47a3d