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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.

rs1485230517

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr2:178395555-178395556 (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
delG
Variation Type
Indel Insertion and Deletion
Frequency
delG=0.000004 (1/250582, GnomAD_exome)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
OSBPL6 : Frameshift 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 250582 GG=0.999996 delG=0.000004
gnomAD - Exomes European Sub 135144 GG=1.000000 delG=0.000000
gnomAD - Exomes Asian Sub 48706 GG=1.00000 delG=0.00000
gnomAD - Exomes American Sub 34356 GG=0.99997 delG=0.00003
gnomAD - Exomes African Sub 16234 GG=1.00000 delG=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10042 GG=1.00000 delG=0.00000
gnomAD - Exomes Other Sub 6100 GG=1.0000 delG=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 2 NC_000002.12:g.178395556del
GRCh37.p13 chr 2 NC_000002.11:g.179260283del
Gene: OSBPL6, oxysterol binding protein like 6 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
OSBPL6 transcript variant 1 NM_032523.4:c.2802del W [TGG] > C [TG] Coding Sequence Variant
oxysterol-binding protein-related protein 6 isoform a NP_115912.1:p.Trp934fs W (Trp) > C (Cys) Frameshift Variant
OSBPL6 transcript variant 3 NM_001201480.2:c.2877del W [TGG] > C [TG] Coding Sequence Variant
oxysterol-binding protein-related protein 6 isoform c NP_001188409.1:p.Trp959fs W (Trp) > C (Cys) Frameshift Variant
OSBPL6 transcript variant 4 NM_001201481.2:c.2709del W [TGG] > C [TG] Coding Sequence Variant
oxysterol-binding protein-related protein 6 isoform d NP_001188410.1:p.Trp903fs W (Trp) > C (Cys) Frameshift Variant
OSBPL6 transcript variant 2 NM_145739.3:c.2814del W [TGG] > C [TG] Coding Sequence Variant
oxysterol-binding protein-related protein 6 isoform b NP_665682.1:p.Trp938fs W (Trp) > C (Cys) Frameshift Variant
OSBPL6 transcript variant 5 NM_001201482.2:c.2694del W [TGG] > C [TG] Coding Sequence Variant
oxysterol-binding protein-related protein 6 isoform e NP_001188411.1:p.Trp898fs W (Trp) > C (Cys) Frameshift Variant
OSBPL6 transcript variant X45 XM_047443169.1:c. N/A Genic Downstream Transcript Variant
OSBPL6 transcript variant X1 XM_017003265.3:c.2943del W [TGG] > C [TG] Coding Sequence Variant
oxysterol-binding protein-related protein 6 isoform X1 XP_016858754.1:p.Trp981fs W (Trp) > C (Cys) Frameshift Variant
OSBPL6 transcript variant X2 XM_047443123.1:c.2943del W [TGG] > C [TG] Coding Sequence Variant
oxysterol-binding protein-related protein 6 isoform X1 XP_047299079.1:p.Trp981fs W (Trp) > C (Cys) Frameshift Variant
OSBPL6 transcript variant X3 XM_017003266.2:c.2877del W [TGG] > C [TG] Coding Sequence Variant
oxysterol-binding protein-related protein 6 isoform X2 XP_016858755.1:p.Trp959fs W (Trp) > C (Cys) Frameshift Variant
OSBPL6 transcript variant X4 XM_047443124.1:c.2877del W [TGG] > C [TG] Coding Sequence Variant
oxysterol-binding protein-related protein 6 isoform X2 XP_047299080.1:p.Trp959fs W (Trp) > C (Cys) Frameshift Variant
OSBPL6 transcript variant X5 XM_017003267.3:c.2877del W [TGG] > C [TG] Coding Sequence Variant
oxysterol-binding protein-related protein 6 isoform X2 XP_016858756.1:p.Trp959fs W (Trp) > C (Cys) Frameshift Variant
OSBPL6 transcript variant X6 XM_047443125.1:c.2868del W [TGG] > C [TG] Coding Sequence Variant
oxysterol-binding protein-related protein 6 isoform X3 XP_047299081.1:p.Trp956fs W (Trp) > C (Cys) Frameshift Variant
OSBPL6 transcript variant X7 XM_047443126.1:c.2802del W [TGG] > C [TG] Coding Sequence Variant
oxysterol-binding protein-related protein 6 isoform X4 XP_047299082.1:p.Trp934fs W (Trp) > C (Cys) Frameshift Variant
OSBPL6 transcript variant X8 XM_047443127.1:c.2802del W [TGG] > C [TG] Coding Sequence Variant
oxysterol-binding protein-related protein 6 isoform X4 XP_047299083.1:p.Trp934fs W (Trp) > C (Cys) Frameshift Variant
OSBPL6 transcript variant X9 XM_047443129.1:c.2802del W [TGG] > C [TG] Coding Sequence Variant
oxysterol-binding protein-related protein 6 isoform X4 XP_047299085.1:p.Trp934fs W (Trp) > C (Cys) Frameshift Variant
OSBPL6 transcript variant X10 XM_047443130.1:c.2802del W [TGG] > C [TG] Coding Sequence Variant
oxysterol-binding protein-related protein 6 isoform X4 XP_047299086.1:p.Trp934fs W (Trp) > C (Cys) Frameshift Variant
OSBPL6 transcript variant X11 XM_047443131.1:c.2802del W [TGG] > C [TG] Coding Sequence Variant
oxysterol-binding protein-related protein 6 isoform X4 XP_047299087.1:p.Trp934fs W (Trp) > C (Cys) Frameshift Variant
OSBPL6 transcript variant X12 XM_047443132.1:c.2802del W [TGG] > C [TG] Coding Sequence Variant
oxysterol-binding protein-related protein 6 isoform X4 XP_047299088.1:p.Trp934fs W (Trp) > C (Cys) Frameshift Variant
OSBPL6 transcript variant X13 XM_047443134.1:c.2784del W [TGG] > C [TG] Coding Sequence Variant
oxysterol-binding protein-related protein 6 isoform X5 XP_047299090.1:p.Trp928fs W (Trp) > C (Cys) Frameshift Variant
OSBPL6 transcript variant X14 XM_011510539.3:c.2784del W [TGG] > C [TG] Coding Sequence Variant
oxysterol-binding protein-related protein 6 isoform X6 XP_011508841.1:p.Trp928fs W (Trp) > C (Cys) Frameshift Variant
OSBPL6 transcript variant X15 XM_047443144.1:c.2784del W [TGG] > C [TG] Coding Sequence Variant
oxysterol-binding protein-related protein 6 isoform X5 XP_047299100.1:p.Trp928fs W (Trp) > C (Cys) Frameshift Variant
OSBPL6 transcript variant X16 XM_047443145.1:c.2784del W [TGG] > C [TG] Coding Sequence Variant
oxysterol-binding protein-related protein 6 isoform X6 XP_047299101.1:p.Trp928fs W (Trp) > C (Cys) Frameshift Variant
OSBPL6 transcript variant X17 XM_047443146.1:c.2784del W [TGG] > C [TG] Coding Sequence Variant
oxysterol-binding protein-related protein 6 isoform X6 XP_047299102.1:p.Trp928fs W (Trp) > C (Cys) Frameshift Variant
OSBPL6 transcript variant X18 XM_047443147.1:c.2775del W [TGG] > C [TG] Coding Sequence Variant
oxysterol-binding protein-related protein 6 isoform X7 XP_047299103.1:p.Trp925fs W (Trp) > C (Cys) Frameshift Variant
OSBPL6 transcript variant X19 XM_017003268.3:c.2769del W [TGG] > C [TG] Coding Sequence Variant
oxysterol-binding protein-related protein 6 isoform X8 XP_016858757.1:p.Trp923fs W (Trp) > C (Cys) Frameshift Variant
OSBPL6 transcript variant X20 XM_047443149.1:c.2769del W [TGG] > C [TG] Coding Sequence Variant
oxysterol-binding protein-related protein 6 isoform X8 XP_047299105.1:p.Trp923fs W (Trp) > C (Cys) Frameshift Variant
OSBPL6 transcript variant X21 XM_047443150.1:c.2769del W [TGG] > C [TG] Coding Sequence Variant
oxysterol-binding protein-related protein 6 isoform X8 XP_047299106.1:p.Trp923fs W (Trp) > C (Cys) Frameshift Variant
OSBPL6 transcript variant X22 XM_017003269.3:c.2769del W [TGG] > C [TG] Coding Sequence Variant
oxysterol-binding protein-related protein 6 isoform X8 XP_016858758.1:p.Trp923fs W (Trp) > C (Cys) Frameshift Variant
OSBPL6 transcript variant X23 XM_047443151.1:c.2709del W [TGG] > C [TG] Coding Sequence Variant
oxysterol-binding protein-related protein 6 isoform X9 XP_047299107.1:p.Trp903fs W (Trp) > C (Cys) Frameshift Variant
OSBPL6 transcript variant X24 XM_047443152.1:c.2709del W [TGG] > C [TG] Coding Sequence Variant
oxysterol-binding protein-related protein 6 isoform X10 XP_047299108.1:p.Trp903fs W (Trp) > C (Cys) Frameshift Variant
OSBPL6 transcript variant X25 XM_047443153.1:c.2709del W [TGG] > C [TG] Coding Sequence Variant
oxysterol-binding protein-related protein 6 isoform X10 XP_047299109.1:p.Trp903fs W (Trp) > C (Cys) Frameshift Variant
OSBPL6 transcript variant X26 XM_047443154.1:c.2709del W [TGG] > C [TG] Coding Sequence Variant
oxysterol-binding protein-related protein 6 isoform X10 XP_047299110.1:p.Trp903fs W (Trp) > C (Cys) Frameshift Variant
OSBPL6 transcript variant X27 XM_047443155.1:c.2709del W [TGG] > C [TG] Coding Sequence Variant
oxysterol-binding protein-related protein 6 isoform X10 XP_047299111.1:p.Trp903fs W (Trp) > C (Cys) Frameshift Variant
OSBPL6 transcript variant X28 XM_047443156.1:c.2709del W [TGG] > C [TG] Coding Sequence Variant
oxysterol-binding protein-related protein 6 isoform X9 XP_047299112.1:p.Trp903fs W (Trp) > C (Cys) Frameshift Variant
OSBPL6 transcript variant X29 XM_047443158.1:c.2709del W [TGG] > C [TG] Coding Sequence Variant
oxysterol-binding protein-related protein 6 isoform X9 XP_047299114.1:p.Trp903fs W (Trp) > C (Cys) Frameshift Variant
OSBPL6 transcript variant X30 XM_047443159.1:c.2694del W [TGG] > C [TG] Coding Sequence Variant
oxysterol-binding protein-related protein 6 isoform X11 XP_047299115.1:p.Trp898fs W (Trp) > C (Cys) Frameshift Variant
OSBPL6 transcript variant X31 XM_047443160.1:c.2694del W [TGG] > C [TG] Coding Sequence Variant
oxysterol-binding protein-related protein 6 isoform X11 XP_047299116.1:p.Trp898fs W (Trp) > C (Cys) Frameshift Variant
OSBPL6 transcript variant X32 XM_017003271.3:c.2694del W [TGG] > C [TG] Coding Sequence Variant
oxysterol-binding protein-related protein 6 isoform X11 XP_016858760.1:p.Trp898fs W (Trp) > C (Cys) Frameshift Variant
OSBPL6 transcript variant X33 XM_047443161.1:c.2691del W [TGG] > C [TG] Coding Sequence Variant
oxysterol-binding protein-related protein 6 isoform X12 XP_047299117.1:p.Trp897fs W (Trp) > C (Cys) Frameshift Variant
OSBPL6 transcript variant X34 XM_047443162.1:c.2676del W [TGG] > C [TG] Coding Sequence Variant
oxysterol-binding protein-related protein 6 isoform X13 XP_047299118.1:p.Trp892fs W (Trp) > C (Cys) Frameshift Variant
OSBPL6 transcript variant X35 XM_017003272.3:c.2676del W [TGG] > C [TG] Coding Sequence Variant
oxysterol-binding protein-related protein 6 isoform X14 XP_016858761.1:p.Trp892fs W (Trp) > C (Cys) Frameshift Variant
OSBPL6 transcript variant X36 XM_017003273.3:c.2616del W [TGG] > C [TG] Coding Sequence Variant
oxysterol-binding protein-related protein 6 isoform X15 XP_016858762.1:p.Trp872fs W (Trp) > C (Cys) Frameshift Variant
OSBPL6 transcript variant X37 XM_047443163.1:c.2616del W [TGG] > C [TG] Coding Sequence Variant
oxysterol-binding protein-related protein 6 isoform X15 XP_047299119.1:p.Trp872fs W (Trp) > C (Cys) Frameshift Variant
OSBPL6 transcript variant X38 XM_017003274.3:c.2601del W [TGG] > C [TG] Coding Sequence Variant
oxysterol-binding protein-related protein 6 isoform X16 XP_016858763.1:p.Trp867fs W (Trp) > C (Cys) Frameshift Variant
OSBPL6 transcript variant X39 XM_047443165.1:c.2601del W [TGG] > C [TG] Coding Sequence Variant
oxysterol-binding protein-related protein 6 isoform X16 XP_047299121.1:p.Trp867fs W (Trp) > C (Cys) Frameshift Variant
OSBPL6 transcript variant X40 XM_017003276.3:c.2601del W [TGG] > C [TG] Coding Sequence Variant
oxysterol-binding protein-related protein 6 isoform X17 XP_016858765.1:p.Trp867fs W (Trp) > C (Cys) Frameshift Variant
OSBPL6 transcript variant X41 XM_047443166.1:c.2601del W [TGG] > C [TG] Coding Sequence Variant
oxysterol-binding protein-related protein 6 isoform X16 XP_047299122.1:p.Trp867fs W (Trp) > C (Cys) Frameshift Variant
OSBPL6 transcript variant X42 XM_047443167.1:c.2526del W [TGG] > C [TG] Coding Sequence Variant
oxysterol-binding protein-related protein 6 isoform X18 XP_047299123.1:p.Trp842fs W (Trp) > C (Cys) Frameshift Variant
OSBPL6 transcript variant X43 XM_017003277.3:c.2508del W [TGG] > C [TG] Coding Sequence Variant
oxysterol-binding protein-related protein 6 isoform X19 XP_016858766.1:p.Trp836fs W (Trp) > C (Cys) Frameshift Variant
OSBPL6 transcript variant X44 XM_047443168.1:c.2508del W [TGG] > C [TG] Coding Sequence Variant
oxysterol-binding protein-related protein 6 isoform X19 XP_047299124.1:p.Trp836fs W (Trp) > C (Cys) Frameshift 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 GG= delG
GRCh38.p14 chr 2 NC_000002.12:g.178395555_178395556= NC_000002.12:g.178395556del
GRCh37.p13 chr 2 NC_000002.11:g.179260282_179260283= NC_000002.11:g.179260283del
OSBPL6 transcript variant 1 NM_032523.4:c.2801_2802= NM_032523.4:c.2802del
OSBPL6 transcript variant 1 NM_032523.3:c.2801_2802= NM_032523.3:c.2802del
OSBPL6 transcript variant X1 XM_017003265.3:c.2942_2943= XM_017003265.3:c.2943del
OSBPL6 transcript variant X1 XM_017003265.2:c.2942_2943= XM_017003265.2:c.2943del
OSBPL6 transcript variant X1 XM_017003265.1:c.2942_2943= XM_017003265.1:c.2943del
OSBPL6 transcript variant X5 XM_017003267.3:c.2876_2877= XM_017003267.3:c.2877del
OSBPL6 transcript variant X3 XM_017003267.2:c.2876_2877= XM_017003267.2:c.2877del
OSBPL6 transcript variant X3 XM_017003267.1:c.2876_2877= XM_017003267.1:c.2877del
OSBPL6 transcript variant X14 XM_011510539.3:c.2783_2784= XM_011510539.3:c.2784del
OSBPL6 transcript variant X4 XM_011510539.2:c.2783_2784= XM_011510539.2:c.2784del
OSBPL6 transcript variant X4 XM_011510539.1:c.2783_2784= XM_011510539.1:c.2784del
OSBPL6 transcript variant X19 XM_017003268.3:c.2768_2769= XM_017003268.3:c.2769del
OSBPL6 transcript variant X5 XM_017003268.2:c.2768_2769= XM_017003268.2:c.2769del
OSBPL6 transcript variant X5 XM_017003268.1:c.2768_2769= XM_017003268.1:c.2769del
OSBPL6 transcript variant X22 XM_017003269.3:c.2768_2769= XM_017003269.3:c.2769del
OSBPL6 transcript variant X6 XM_017003269.2:c.2768_2769= XM_017003269.2:c.2769del
OSBPL6 transcript variant X6 XM_017003269.1:c.2768_2769= XM_017003269.1:c.2769del
OSBPL6 transcript variant X35 XM_017003272.3:c.2675_2676= XM_017003272.3:c.2676del
OSBPL6 transcript variant X9 XM_017003272.2:c.2675_2676= XM_017003272.2:c.2676del
OSBPL6 transcript variant X9 XM_017003272.1:c.2675_2676= XM_017003272.1:c.2676del
OSBPL6 transcript variant X32 XM_017003271.3:c.2693_2694= XM_017003271.3:c.2694del
OSBPL6 transcript variant X8 XM_017003271.2:c.2693_2694= XM_017003271.2:c.2694del
OSBPL6 transcript variant X8 XM_017003271.1:c.2693_2694= XM_017003271.1:c.2694del
OSBPL6 transcript variant X36 XM_017003273.3:c.2615_2616= XM_017003273.3:c.2616del
OSBPL6 transcript variant X10 XM_017003273.2:c.2615_2616= XM_017003273.2:c.2616del
OSBPL6 transcript variant X10 XM_017003273.1:c.2615_2616= XM_017003273.1:c.2616del
OSBPL6 transcript variant X40 XM_017003276.3:c.2600_2601= XM_017003276.3:c.2601del
OSBPL6 transcript variant X13 XM_017003276.2:c.2600_2601= XM_017003276.2:c.2601del
OSBPL6 transcript variant X13 XM_017003276.1:c.2600_2601= XM_017003276.1:c.2601del
OSBPL6 transcript variant X38 XM_017003274.3:c.2600_2601= XM_017003274.3:c.2601del
OSBPL6 transcript variant X11 XM_017003274.2:c.2600_2601= XM_017003274.2:c.2601del
OSBPL6 transcript variant X11 XM_017003274.1:c.2600_2601= XM_017003274.1:c.2601del
OSBPL6 transcript variant X43 XM_017003277.3:c.2507_2508= XM_017003277.3:c.2508del
OSBPL6 transcript variant X14 XM_017003277.2:c.2507_2508= XM_017003277.2:c.2508del
OSBPL6 transcript variant X14 XM_017003277.1:c.2507_2508= XM_017003277.1:c.2508del
OSBPL6 transcript variant 2 NM_145739.3:c.2813_2814= NM_145739.3:c.2814del
OSBPL6 transcript variant 2 NM_145739.2:c.2813_2814= NM_145739.2:c.2814del
OSBPL6 transcript variant X3 XM_017003266.2:c.2876_2877= XM_017003266.2:c.2877del
OSBPL6 transcript variant X2 XM_017003266.1:c.2876_2877= XM_017003266.1:c.2877del
OSBPL6 transcript variant 3 NM_001201480.2:c.2876_2877= NM_001201480.2:c.2877del
OSBPL6 transcript variant 3 NM_001201480.1:c.2876_2877= NM_001201480.1:c.2877del
OSBPL6 transcript variant 4 NM_001201481.2:c.2708_2709= NM_001201481.2:c.2709del
OSBPL6 transcript variant 4 NM_001201481.1:c.2708_2709= NM_001201481.1:c.2709del
OSBPL6 transcript variant 5 NM_001201482.2:c.2693_2694= NM_001201482.2:c.2694del
OSBPL6 transcript variant 5 NM_001201482.1:c.2693_2694= NM_001201482.1:c.2694del
OSBPL6 transcript variant X2 XM_047443123.1:c.2942_2943= XM_047443123.1:c.2943del
OSBPL6 transcript variant X9 XM_047443129.1:c.2801_2802= XM_047443129.1:c.2802del
OSBPL6 transcript variant X4 XM_047443124.1:c.2876_2877= XM_047443124.1:c.2877del
OSBPL6 transcript variant X20 XM_047443149.1:c.2768_2769= XM_047443149.1:c.2769del
OSBPL6 transcript variant X7 XM_047443126.1:c.2801_2802= XM_047443126.1:c.2802del
OSBPL6 transcript variant X8 XM_047443127.1:c.2801_2802= XM_047443127.1:c.2802del
OSBPL6 transcript variant X6 XM_047443125.1:c.2867_2868= XM_047443125.1:c.2868del
OSBPL6 transcript variant X16 XM_047443145.1:c.2783_2784= XM_047443145.1:c.2784del
OSBPL6 transcript variant X15 XM_047443144.1:c.2783_2784= XM_047443144.1:c.2784del
OSBPL6 transcript variant X12 XM_047443132.1:c.2801_2802= XM_047443132.1:c.2802del
OSBPL6 transcript variant X10 XM_047443130.1:c.2801_2802= XM_047443130.1:c.2802del
OSBPL6 transcript variant X28 XM_047443156.1:c.2708_2709= XM_047443156.1:c.2709del
OSBPL6 transcript variant X24 XM_047443152.1:c.2708_2709= XM_047443152.1:c.2709del
OSBPL6 transcript variant X25 XM_047443153.1:c.2708_2709= XM_047443153.1:c.2709del
OSBPL6 transcript variant X17 XM_047443146.1:c.2783_2784= XM_047443146.1:c.2784del
OSBPL6 transcript variant X18 XM_047443147.1:c.2774_2775= XM_047443147.1:c.2775del
OSBPL6 transcript variant X13 XM_047443134.1:c.2783_2784= XM_047443134.1:c.2784del
OSBPL6 transcript variant X30 XM_047443159.1:c.2693_2694= XM_047443159.1:c.2694del
OSBPL6 transcript variant X31 XM_047443160.1:c.2693_2694= XM_047443160.1:c.2694del
OSBPL6 transcript variant X21 XM_047443150.1:c.2768_2769= XM_047443150.1:c.2769del
OSBPL6 transcript variant X11 XM_047443131.1:c.2801_2802= XM_047443131.1:c.2802del
OSBPL6 transcript variant X26 XM_047443154.1:c.2708_2709= XM_047443154.1:c.2709del
OSBPL6 transcript variant X23 XM_047443151.1:c.2708_2709= XM_047443151.1:c.2709del
OSBPL6 transcript variant X33 XM_047443161.1:c.2690_2691= XM_047443161.1:c.2691del
OSBPL6 transcript variant X34 XM_047443162.1:c.2675_2676= XM_047443162.1:c.2676del
OSBPL6 transcript variant X29 XM_047443158.1:c.2708_2709= XM_047443158.1:c.2709del
OSBPL6 transcript variant X27 XM_047443155.1:c.2708_2709= XM_047443155.1:c.2709del
OSBPL6 transcript variant X39 XM_047443165.1:c.2600_2601= XM_047443165.1:c.2601del
OSBPL6 transcript variant X37 XM_047443163.1:c.2615_2616= XM_047443163.1:c.2616del
OSBPL6 transcript variant X41 XM_047443166.1:c.2600_2601= XM_047443166.1:c.2601del
OSBPL6 transcript variant X44 XM_047443168.1:c.2507_2508= XM_047443168.1:c.2508del
OSBPL6 transcript variant X42 XM_047443167.1:c.2525_2526= XM_047443167.1:c.2526del
oxysterol-binding protein-related protein 6 isoform a NP_115912.1:p.Trp934= NP_115912.1:p.Trp934fs
oxysterol-binding protein-related protein 6 isoform X1 XP_016858754.1:p.Trp981= XP_016858754.1:p.Trp981fs
oxysterol-binding protein-related protein 6 isoform X2 XP_016858756.1:p.Trp959= XP_016858756.1:p.Trp959fs
oxysterol-binding protein-related protein 6 isoform X6 XP_011508841.1:p.Trp928= XP_011508841.1:p.Trp928fs
oxysterol-binding protein-related protein 6 isoform X8 XP_016858757.1:p.Trp923= XP_016858757.1:p.Trp923fs
oxysterol-binding protein-related protein 6 isoform X8 XP_016858758.1:p.Trp923= XP_016858758.1:p.Trp923fs
oxysterol-binding protein-related protein 6 isoform X14 XP_016858761.1:p.Trp892= XP_016858761.1:p.Trp892fs
oxysterol-binding protein-related protein 6 isoform X11 XP_016858760.1:p.Trp898= XP_016858760.1:p.Trp898fs
oxysterol-binding protein-related protein 6 isoform X15 XP_016858762.1:p.Trp872= XP_016858762.1:p.Trp872fs
oxysterol-binding protein-related protein 6 isoform X17 XP_016858765.1:p.Trp867= XP_016858765.1:p.Trp867fs
oxysterol-binding protein-related protein 6 isoform X16 XP_016858763.1:p.Trp867= XP_016858763.1:p.Trp867fs
oxysterol-binding protein-related protein 6 isoform X19 XP_016858766.1:p.Trp836= XP_016858766.1:p.Trp836fs
oxysterol-binding protein-related protein 6 isoform b NP_665682.1:p.Trp938= NP_665682.1:p.Trp938fs
oxysterol-binding protein-related protein 6 isoform X2 XP_016858755.1:p.Trp959= XP_016858755.1:p.Trp959fs
oxysterol-binding protein-related protein 6 isoform c NP_001188409.1:p.Trp959= NP_001188409.1:p.Trp959fs
oxysterol-binding protein-related protein 6 isoform d NP_001188410.1:p.Trp903= NP_001188410.1:p.Trp903fs
oxysterol-binding protein-related protein 6 isoform e NP_001188411.1:p.Trp898= NP_001188411.1:p.Trp898fs
oxysterol-binding protein-related protein 6 isoform X1 XP_047299079.1:p.Trp981= XP_047299079.1:p.Trp981fs
oxysterol-binding protein-related protein 6 isoform X4 XP_047299085.1:p.Trp934= XP_047299085.1:p.Trp934fs
oxysterol-binding protein-related protein 6 isoform X2 XP_047299080.1:p.Trp959= XP_047299080.1:p.Trp959fs
oxysterol-binding protein-related protein 6 isoform X8 XP_047299105.1:p.Trp923= XP_047299105.1:p.Trp923fs
oxysterol-binding protein-related protein 6 isoform X4 XP_047299082.1:p.Trp934= XP_047299082.1:p.Trp934fs
oxysterol-binding protein-related protein 6 isoform X4 XP_047299083.1:p.Trp934= XP_047299083.1:p.Trp934fs
oxysterol-binding protein-related protein 6 isoform X3 XP_047299081.1:p.Trp956= XP_047299081.1:p.Trp956fs
oxysterol-binding protein-related protein 6 isoform X6 XP_047299101.1:p.Trp928= XP_047299101.1:p.Trp928fs
oxysterol-binding protein-related protein 6 isoform X5 XP_047299100.1:p.Trp928= XP_047299100.1:p.Trp928fs
oxysterol-binding protein-related protein 6 isoform X4 XP_047299088.1:p.Trp934= XP_047299088.1:p.Trp934fs
oxysterol-binding protein-related protein 6 isoform X4 XP_047299086.1:p.Trp934= XP_047299086.1:p.Trp934fs
oxysterol-binding protein-related protein 6 isoform X9 XP_047299112.1:p.Trp903= XP_047299112.1:p.Trp903fs
oxysterol-binding protein-related protein 6 isoform X10 XP_047299108.1:p.Trp903= XP_047299108.1:p.Trp903fs
oxysterol-binding protein-related protein 6 isoform X10 XP_047299109.1:p.Trp903= XP_047299109.1:p.Trp903fs
oxysterol-binding protein-related protein 6 isoform X6 XP_047299102.1:p.Trp928= XP_047299102.1:p.Trp928fs
oxysterol-binding protein-related protein 6 isoform X7 XP_047299103.1:p.Trp925= XP_047299103.1:p.Trp925fs
oxysterol-binding protein-related protein 6 isoform X5 XP_047299090.1:p.Trp928= XP_047299090.1:p.Trp928fs
oxysterol-binding protein-related protein 6 isoform X11 XP_047299115.1:p.Trp898= XP_047299115.1:p.Trp898fs
oxysterol-binding protein-related protein 6 isoform X11 XP_047299116.1:p.Trp898= XP_047299116.1:p.Trp898fs
oxysterol-binding protein-related protein 6 isoform X8 XP_047299106.1:p.Trp923= XP_047299106.1:p.Trp923fs
oxysterol-binding protein-related protein 6 isoform X4 XP_047299087.1:p.Trp934= XP_047299087.1:p.Trp934fs
oxysterol-binding protein-related protein 6 isoform X10 XP_047299110.1:p.Trp903= XP_047299110.1:p.Trp903fs
oxysterol-binding protein-related protein 6 isoform X9 XP_047299107.1:p.Trp903= XP_047299107.1:p.Trp903fs
oxysterol-binding protein-related protein 6 isoform X12 XP_047299117.1:p.Trp897= XP_047299117.1:p.Trp897fs
oxysterol-binding protein-related protein 6 isoform X13 XP_047299118.1:p.Trp892= XP_047299118.1:p.Trp892fs
oxysterol-binding protein-related protein 6 isoform X9 XP_047299114.1:p.Trp903= XP_047299114.1:p.Trp903fs
oxysterol-binding protein-related protein 6 isoform X10 XP_047299111.1:p.Trp903= XP_047299111.1:p.Trp903fs
oxysterol-binding protein-related protein 6 isoform X16 XP_047299121.1:p.Trp867= XP_047299121.1:p.Trp867fs
oxysterol-binding protein-related protein 6 isoform X15 XP_047299119.1:p.Trp872= XP_047299119.1:p.Trp872fs
oxysterol-binding protein-related protein 6 isoform X16 XP_047299122.1:p.Trp867= XP_047299122.1:p.Trp867fs
oxysterol-binding protein-related protein 6 isoform X19 XP_047299124.1:p.Trp836= XP_047299124.1:p.Trp836fs
oxysterol-binding protein-related protein 6 isoform X18 XP_047299123.1:p.Trp842= XP_047299123.1:p.Trp842fs
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 ss2733140237 Nov 08, 2017 (151)
2 gnomAD - Exomes NC_000002.11 - 179260282 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
2200585, ss2733140237 NC_000002.11:179260281:G: NC_000002.12:178395554:GG:G (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1485230517

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