Name: rs1491540340
Published: September 21, 2022
License: Open Access

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.

rs1491540340

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chrX:13722209-13722210 (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: insG / insGC / insGC(A)₄₆G / insGC…
insG / insGC / insGC(A)₄₆G / insGC(A)₁₂G / insGCAGC / insGCC
Variation Type: Insertion
Frequency: insG=0.0000 (0/8830, ALFA)
insGC=0.0000 (0/8830, ALFA)
insGCAGC=0.0000 (0/8830, ALFA) (+ 2 more)
insGCC=0.0000 (0/8830, ALFA)
-=0.2 (2/8, KOREAN)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: OFD1 : Intron Variant
TRAPPC2 : Intron 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.

Release Version: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	HWEP
Total	Global	8830	=1.0000	G=0.0000, GC=0.0000, GCAGC=0.0000, GCC=0.0000	1.0	N/A
European	Sub	5692	=1.0000	G=0.0000, GC=0.0000, GCAGC=0.0000, GCC=0.0000	1.0	N/A
African	Sub	1996	=1.0000	G=0.0000, GC=0.0000, GCAGC=0.0000, GCC=0.0000	1.0	N/A
African Others	Sub	76	=1.00	G=0.00, GC=0.00, GCAGC=0.00, GCC=0.00	1.0	N/A
African American	Sub	1920	=1.0000	G=0.0000, GC=0.0000, GCAGC=0.0000, GCC=0.0000	1.0	N/A
Asian	Sub	86	=1.00	G=0.00, GC=0.00, GCAGC=0.00, GCC=0.00	1.0	N/A
East Asian	Sub	72	=1.00	G=0.00, GC=0.00, GCAGC=0.00, GCC=0.00	1.0	N/A
Other Asian	Sub	14	=1.00	G=0.00, GC=0.00, GCAGC=0.00, GCC=0.00	1.0	N/A
Latin American 1	Sub	118	=1.000	G=0.000, GC=0.000, GCAGC=0.000, GCC=0.000	1.0	N/A
Latin American 2	Sub	510	=1.000	G=0.000, GC=0.000, GCAGC=0.000, GCC=0.000	1.0	N/A
South Asian	Sub	74	=1.00	G=0.00, GC=0.00, GCAGC=0.00, GCC=0.00	1.0	N/A
Other	Sub	354	=1.000	G=0.000, GC=0.000, GCAGC=0.000, GCC=0.000	1.0	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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	8830	- No frequency provided	insG=0.0000, insGC=0.0000, insGCAGC=0.0000, insGCC=0.0000
Allele Frequency Aggregator	European	Sub	5692	- No frequency provided	insG=0.0000, insGC=0.0000, insGCAGC=0.0000, insGCC=0.0000
Allele Frequency Aggregator	African	Sub	1996	- No frequency provided	insG=0.0000, insGC=0.0000, insGCAGC=0.0000, insGCC=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	510	- No frequency provided	insG=0.000, insGC=0.000, insGCAGC=0.000, insGCC=0.000
Allele Frequency Aggregator	Other	Sub	354	- No frequency provided	insG=0.000, insGC=0.000, insGCAGC=0.000, insGCC=0.000
Allele Frequency Aggregator	Latin American 1	Sub	118	- No frequency provided	insG=0.000, insGC=0.000, insGCAGC=0.000, insGCC=0.000
Allele Frequency Aggregator	Asian	Sub	86	- No frequency provided	insG=0.00, insGC=0.00, insGCAGC=0.00, insGCC=0.00
Allele Frequency Aggregator	South Asian	Sub	74	- No frequency provided	insG=0.00, insGC=0.00, insGCAGC=0.00, insGCC=0.00
KOREAN population from KRGDB	KOREAN	Study-wide	8	- No frequency provided	insGC=0.8

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 X	NC_000023.11:g.13722209_13722210insG
GRCh38.p14 chr X	NC_000023.11:g.13722209_13722210insGC
GRCh38.p14 chr X	NC_000023.11:g.13722209_13722210insGCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG
GRCh38.p14 chr X	NC_000023.11:g.13722209_13722210insGCAAAAAAAAAAAAG
GRCh38.p14 chr X	NC_000023.11:g.13722209_13722210insGCAGC
GRCh38.p14 chr X	NC_000023.11:g.13722209_13722210insGCC
GRCh37.p13 chr X	NC_000023.10:g.13740328_13740329insG
GRCh37.p13 chr X	NC_000023.10:g.13740328_13740329insGC
GRCh37.p13 chr X	NC_000023.10:g.13740328_13740329insGCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG
GRCh37.p13 chr X	NC_000023.10:g.13740328_13740329insGCAAAAAAAAAAAAG
GRCh37.p13 chr X	NC_000023.10:g.13740328_13740329insGCAGC
GRCh37.p13 chr X	NC_000023.10:g.13740328_13740329insGCC
TRAPPC2 RefSeqGene	NG_011555.1:g.17414_17415insC
TRAPPC2 RefSeqGene	NG_011555.1:g.17414_17415insGC
TRAPPC2 RefSeqGene	NG_011555.1:g.17414_17415insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGC
TRAPPC2 RefSeqGene	NG_011555.1:g.17414_17415insCTTTTTTTTTTTTGC
TRAPPC2 RefSeqGene	NG_011555.1:g.17414_17415insGCTGC
TRAPPC2 RefSeqGene	NG_011555.1:g.17414_17415insGGC

Gene: TRAPPC2, trafficking protein particle complex subunit 2 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
TRAPPC2 transcript variant 1	NM_001011658.4:c.-19-2228… NM_001011658.4:c.-19-2228_-19-2227insC	N/A	Intron Variant
TRAPPC2 transcript variant 3	NM_001128835.3:c.84-2228_… NM_001128835.3:c.84-2228_84-2227insC	N/A	Intron Variant
TRAPPC2 transcript variant 2	NM_014563.6:c.-19-2228_-1… NM_014563.6:c.-19-2228_-19-2227insC	N/A	Intron Variant
TRAPPC2 transcript variant X2	XM_011545566.3:c.-89-1713… XM_011545566.3:c.-89-1713_-89-1712insC	N/A	Intron Variant
TRAPPC2 transcript variant X3	XM_047442351.1:c.-19-2228… XM_047442351.1:c.-19-2228_-19-2227insC	N/A	Intron Variant
TRAPPC2 transcript variant X1	XM_047442352.1:c.-89-1713… XM_047442352.1:c.-89-1713_-89-1712insC	N/A	Intron Variant

Gene: OFD1, OFD1 centriole and centriolar satellite protein (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
OFD1 transcript variant 2	NM_001330209.2:c.	N/A	Genic Upstream Transcript Variant
OFD1 transcript variant 3	NM_001330210.2:c.	N/A	Genic Upstream Transcript Variant
OFD1 transcript variant 1	NM_003611.3:c.	N/A	Genic Upstream Transcript Variant
OFD1 transcript variant X1	XM_047442583.1:c.33+6415_… XM_047442583.1:c.33+6415_33+6416insG	N/A	Intron Variant
OFD1 transcript variant X2	XM_047442584.1:c.33+6415_… XM_047442584.1:c.33+6415_33+6416insG	N/A	Intron Variant
OFD1 transcript variant X3	XM_047442585.1:c.33+6415_… XM_047442585.1:c.33+6415_33+6416insG	N/A	Intron Variant
OFD1 transcript variant X4	XM_047442586.1:c.33+6415_… XM_047442586.1:c.33+6415_33+6416insG	N/A	Intron Variant
OFD1 transcript variant X6	XM_047442588.1:c.33+6415_… XM_047442588.1:c.33+6415_33+6416insG	N/A	Intron Variant
OFD1 transcript variant X7	XM_047442589.1:c.33+6415_… XM_047442589.1:c.33+6415_33+6416insG	N/A	Intron Variant
OFD1 transcript variant X9	XM_047442591.1:c.33+6415_… XM_047442591.1:c.33+6415_33+6416insG	N/A	Intron Variant
OFD1 transcript variant X12	XM_047442593.1:c.33+6415_… XM_047442593.1:c.33+6415_33+6416insG	N/A	Intron Variant
OFD1 transcript variant X13	XM_047442594.1:c.33+6415_… XM_047442594.1:c.33+6415_33+6416insG	N/A	Intron Variant
OFD1 transcript variant X18	XM_011545598.2:c.	N/A	Genic Upstream Transcript Variant
OFD1 transcript variant X10	XM_017029909.2:c.	N/A	Genic Upstream Transcript Variant
OFD1 transcript variant X17	XM_017029911.2:c.	N/A	Genic Upstream Transcript Variant
OFD1 transcript variant X5	XM_047442587.1:c.	N/A	Genic Upstream Transcript Variant
OFD1 transcript variant X8	XM_047442590.1:c.	N/A	Genic Upstream Transcript Variant
OFD1 transcript variant X11	XM_047442592.1:c.	N/A	Genic Upstream Transcript Variant
OFD1 transcript variant X14	XM_047442595.1:c.	N/A	Genic Upstream Transcript Variant
OFD1 transcript variant X15	XM_047442596.1:c.	N/A	Genic Upstream Transcript Variant
OFD1 transcript variant X16	XM_047442597.1:c.	N/A	Genic Upstream Transcript Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

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	=	insG	insGC	insGC(A)₄₆G	insGC(A)₁₂G	insGCAGC	insGCC
GRCh38.p14 chr X	NC_000023.11:g.13722209_13722210=	NC_000023.11:g.13722209_13722210insG	NC_000023.11:g.13722209_13722210insGC	NC_000023.11:g.13722209_13722210insGCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	NC_000023.11:g.13722209_13722210insGCAAAAAAAAAAAAG	NC_000023.11:g.13722209_13722210insGCAGC	NC_000023.11:g.13722209_13722210insGCC
GRCh37.p13 chr X	NC_000023.10:g.13740328_13740329=	NC_000023.10:g.13740328_13740329insG	NC_000023.10:g.13740328_13740329insGC	NC_000023.10:g.13740328_13740329insGCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	NC_000023.10:g.13740328_13740329insGCAAAAAAAAAAAAG	NC_000023.10:g.13740328_13740329insGCAGC	NC_000023.10:g.13740328_13740329insGCC
TRAPPC2 RefSeqGene	NG_011555.1:g.17414_17415=	NG_011555.1:g.17414_17415insC	NG_011555.1:g.17414_17415insGC	NG_011555.1:g.17414_17415insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGC	NG_011555.1:g.17414_17415insCTTTTTTTTTTTTGC	NG_011555.1:g.17414_17415insGCTGC	NG_011555.1:g.17414_17415insGGC
TRAPPC2 transcript variant 1	NM_001011658.3:c.-19-2228=	NM_001011658.3:c.-19-2228_-19-2227insC	NM_001011658.3:c.-19-2228_-19-2227insGC	NM_001011658.3:c.-19-2228_-19-2227insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGC	NM_001011658.3:c.-19-2228_-19-2227insCTTTTTTTTTTTTGC	NM_001011658.3:c.-19-2228_-19-2227insGCTGC	NM_001011658.3:c.-19-2228_-19-2227insGGC
TRAPPC2 transcript variant 1	NM_001011658.4:c.-19-2228=	NM_001011658.4:c.-19-2228_-19-2227insC	NM_001011658.4:c.-19-2228_-19-2227insGC	NM_001011658.4:c.-19-2228_-19-2227insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGC	NM_001011658.4:c.-19-2228_-19-2227insCTTTTTTTTTTTTGC	NM_001011658.4:c.-19-2228_-19-2227insGCTGC	NM_001011658.4:c.-19-2228_-19-2227insGGC
TRAPPC2 transcript variant 3	NM_001128835.2:c.84-2228=	NM_001128835.2:c.84-2228_84-2227insC	NM_001128835.2:c.84-2228_84-2227insGC	NM_001128835.2:c.84-2228_84-2227insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGC	NM_001128835.2:c.84-2228_84-2227insCTTTTTTTTTTTTGC	NM_001128835.2:c.84-2228_84-2227insGCTGC	NM_001128835.2:c.84-2228_84-2227insGGC
TRAPPC2 transcript variant 3	NM_001128835.3:c.84-2228=	NM_001128835.3:c.84-2228_84-2227insC	NM_001128835.3:c.84-2228_84-2227insGC	NM_001128835.3:c.84-2228_84-2227insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGC	NM_001128835.3:c.84-2228_84-2227insCTTTTTTTTTTTTGC	NM_001128835.3:c.84-2228_84-2227insGCTGC	NM_001128835.3:c.84-2228_84-2227insGGC
TRAPPC2 transcript variant 2	NM_014563.5:c.-19-2228=	NM_014563.5:c.-19-2228_-19-2227insC	NM_014563.5:c.-19-2228_-19-2227insGC	NM_014563.5:c.-19-2228_-19-2227insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGC	NM_014563.5:c.-19-2228_-19-2227insCTTTTTTTTTTTTGC	NM_014563.5:c.-19-2228_-19-2227insGCTGC	NM_014563.5:c.-19-2228_-19-2227insGGC
TRAPPC2 transcript variant 2	NM_014563.6:c.-19-2228=	NM_014563.6:c.-19-2228_-19-2227insC	NM_014563.6:c.-19-2228_-19-2227insGC	NM_014563.6:c.-19-2228_-19-2227insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGC	NM_014563.6:c.-19-2228_-19-2227insCTTTTTTTTTTTTGC	NM_014563.6:c.-19-2228_-19-2227insGCTGC	NM_014563.6:c.-19-2228_-19-2227insGGC
OFD1 transcript variant X1	XM_005274599.1:c.33+6416=	XM_005274599.1:c.33+6415_33+6416insG	XM_005274599.1:c.33+6415_33+6416insGC	XM_005274599.1:c.33+6415_33+6416insGCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	XM_005274599.1:c.33+6415_33+6416insGCAAAAAAAAAAAAG	XM_005274599.1:c.33+6415_33+6416insGCAGC	XM_005274599.1:c.33+6415_33+6416insGCC
OFD1 transcript variant X2	XM_005274600.1:c.33+6416=	XM_005274600.1:c.33+6415_33+6416insG	XM_005274600.1:c.33+6415_33+6416insGC	XM_005274600.1:c.33+6415_33+6416insGCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	XM_005274600.1:c.33+6415_33+6416insGCAAAAAAAAAAAAG	XM_005274600.1:c.33+6415_33+6416insGCAGC	XM_005274600.1:c.33+6415_33+6416insGCC
OFD1 transcript variant X4	XM_005274602.1:c.33+6416=	XM_005274602.1:c.33+6415_33+6416insG	XM_005274602.1:c.33+6415_33+6416insGC	XM_005274602.1:c.33+6415_33+6416insGCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	XM_005274602.1:c.33+6415_33+6416insGCAAAAAAAAAAAAG	XM_005274602.1:c.33+6415_33+6416insGCAGC	XM_005274602.1:c.33+6415_33+6416insGCC
OFD1 transcript variant X5	XM_005274603.1:c.33+6416=	XM_005274603.1:c.33+6415_33+6416insG	XM_005274603.1:c.33+6415_33+6416insGC	XM_005274603.1:c.33+6415_33+6416insGCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	XM_005274603.1:c.33+6415_33+6416insGCAAAAAAAAAAAAG	XM_005274603.1:c.33+6415_33+6416insGCAGC	XM_005274603.1:c.33+6415_33+6416insGCC
TRAPPC2 transcript variant X2	XM_011545566.3:c.-89-1713=	XM_011545566.3:c.-89-1713_-89-1712insC	XM_011545566.3:c.-89-1713_-89-1712insGC	XM_011545566.3:c.-89-1713_-89-1712insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGC	XM_011545566.3:c.-89-1713_-89-1712insCTTTTTTTTTTTTGC	XM_011545566.3:c.-89-1713_-89-1712insGCTGC	XM_011545566.3:c.-89-1713_-89-1712insGGC
TRAPPC2 transcript variant X3	XM_047442351.1:c.-19-2228=	XM_047442351.1:c.-19-2228_-19-2227insC	XM_047442351.1:c.-19-2228_-19-2227insGC	XM_047442351.1:c.-19-2228_-19-2227insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGC	XM_047442351.1:c.-19-2228_-19-2227insCTTTTTTTTTTTTGC	XM_047442351.1:c.-19-2228_-19-2227insGCTGC	XM_047442351.1:c.-19-2228_-19-2227insGGC
TRAPPC2 transcript variant X1	XM_047442352.1:c.-89-1713=	XM_047442352.1:c.-89-1713_-89-1712insC	XM_047442352.1:c.-89-1713_-89-1712insGC	XM_047442352.1:c.-89-1713_-89-1712insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGC	XM_047442352.1:c.-89-1713_-89-1712insCTTTTTTTTTTTTGC	XM_047442352.1:c.-89-1713_-89-1712insGCTGC	XM_047442352.1:c.-89-1713_-89-1712insGGC
OFD1 transcript variant X1	XM_047442583.1:c.33+6416=	XM_047442583.1:c.33+6415_33+6416insG	XM_047442583.1:c.33+6415_33+6416insGC	XM_047442583.1:c.33+6415_33+6416insGCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	XM_047442583.1:c.33+6415_33+6416insGCAAAAAAAAAAAAG	XM_047442583.1:c.33+6415_33+6416insGCAGC	XM_047442583.1:c.33+6415_33+6416insGCC
OFD1 transcript variant X2	XM_047442584.1:c.33+6416=	XM_047442584.1:c.33+6415_33+6416insG	XM_047442584.1:c.33+6415_33+6416insGC	XM_047442584.1:c.33+6415_33+6416insGCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	XM_047442584.1:c.33+6415_33+6416insGCAAAAAAAAAAAAG	XM_047442584.1:c.33+6415_33+6416insGCAGC	XM_047442584.1:c.33+6415_33+6416insGCC
OFD1 transcript variant X3	XM_047442585.1:c.33+6416=	XM_047442585.1:c.33+6415_33+6416insG	XM_047442585.1:c.33+6415_33+6416insGC	XM_047442585.1:c.33+6415_33+6416insGCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	XM_047442585.1:c.33+6415_33+6416insGCAAAAAAAAAAAAG	XM_047442585.1:c.33+6415_33+6416insGCAGC	XM_047442585.1:c.33+6415_33+6416insGCC
OFD1 transcript variant X4	XM_047442586.1:c.33+6416=	XM_047442586.1:c.33+6415_33+6416insG	XM_047442586.1:c.33+6415_33+6416insGC	XM_047442586.1:c.33+6415_33+6416insGCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	XM_047442586.1:c.33+6415_33+6416insGCAAAAAAAAAAAAG	XM_047442586.1:c.33+6415_33+6416insGCAGC	XM_047442586.1:c.33+6415_33+6416insGCC
OFD1 transcript variant X6	XM_047442588.1:c.33+6416=	XM_047442588.1:c.33+6415_33+6416insG	XM_047442588.1:c.33+6415_33+6416insGC	XM_047442588.1:c.33+6415_33+6416insGCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	XM_047442588.1:c.33+6415_33+6416insGCAAAAAAAAAAAAG	XM_047442588.1:c.33+6415_33+6416insGCAGC	XM_047442588.1:c.33+6415_33+6416insGCC
OFD1 transcript variant X7	XM_047442589.1:c.33+6416=	XM_047442589.1:c.33+6415_33+6416insG	XM_047442589.1:c.33+6415_33+6416insGC	XM_047442589.1:c.33+6415_33+6416insGCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	XM_047442589.1:c.33+6415_33+6416insGCAAAAAAAAAAAAG	XM_047442589.1:c.33+6415_33+6416insGCAGC	XM_047442589.1:c.33+6415_33+6416insGCC
OFD1 transcript variant X9	XM_047442591.1:c.33+6416=	XM_047442591.1:c.33+6415_33+6416insG	XM_047442591.1:c.33+6415_33+6416insGC	XM_047442591.1:c.33+6415_33+6416insGCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	XM_047442591.1:c.33+6415_33+6416insGCAAAAAAAAAAAAG	XM_047442591.1:c.33+6415_33+6416insGCAGC	XM_047442591.1:c.33+6415_33+6416insGCC
OFD1 transcript variant X12	XM_047442593.1:c.33+6416=	XM_047442593.1:c.33+6415_33+6416insG	XM_047442593.1:c.33+6415_33+6416insGC	XM_047442593.1:c.33+6415_33+6416insGCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	XM_047442593.1:c.33+6415_33+6416insGCAAAAAAAAAAAAG	XM_047442593.1:c.33+6415_33+6416insGCAGC	XM_047442593.1:c.33+6415_33+6416insGCC
OFD1 transcript variant X13	XM_047442594.1:c.33+6416=	XM_047442594.1:c.33+6415_33+6416insG	XM_047442594.1:c.33+6415_33+6416insGC	XM_047442594.1:c.33+6415_33+6416insGCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	XM_047442594.1:c.33+6415_33+6416insGCAAAAAAAAAAAAG	XM_047442594.1:c.33+6415_33+6416insGCAGC	XM_047442594.1:c.33+6415_33+6416insGCC

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#.

12 SubSNP, 10 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	KRGDB	ss3941371311	Apr 27, 2020 (154)
2	GNOMAD	ss4368226688	Apr 26, 2021 (155)
3	GNOMAD	ss4368226689	Apr 26, 2021 (155)
4	GNOMAD	ss4368226690	Apr 26, 2021 (155)
5	TOMMO_GENOMICS	ss5233614337	Apr 26, 2021 (155)
6	TOMMO_GENOMICS	ss5233614338	Apr 26, 2021 (155)
7	TOMMO_GENOMICS	ss5233614339	Apr 26, 2021 (155)
8	1000G_HIGH_COVERAGE	ss5311859956	Oct 16, 2022 (156)
9	HUGCELL_USP	ss5503603218	Oct 16, 2022 (156)
10	TOMMO_GENOMICS	ss5795066919	Oct 16, 2022 (156)
11	TOMMO_GENOMICS	ss5795066920	Oct 16, 2022 (156)
12	YY_MCH	ss5818899800	Oct 16, 2022 (156)
13	gnomAD - Genomes Submission ignored due to conflicting rows: Row 575624350 (NC_000023.11:13722209::G 6/18687) Row 575624351 (NC_000023.11:13722209::GC 118/18587) Row 575624352 (NC_000023.11:13722209::GCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG 1/18687)	-	Apr 26, 2021 (155)
14	gnomAD - Genomes Submission ignored due to conflicting rows: Row 575624350 (NC_000023.11:13722209::G 6/18687) Row 575624351 (NC_000023.11:13722209::GC 118/18587) Row 575624352 (NC_000023.11:13722209::GCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG 1/18687)	-	Apr 26, 2021 (155)
15	gnomAD - Genomes Submission ignored due to conflicting rows: Row 575624350 (NC_000023.11:13722209::G 6/18687) Row 575624351 (NC_000023.11:13722209::GC 118/18587) Row 575624352 (NC_000023.11:13722209::GCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG 1/18687)	-	Apr 26, 2021 (155)
16	KOREAN population from KRGDB	NC_000023.10 - 13740329	Apr 27, 2020 (154)
17	8.3KJPN Submission ignored due to conflicting rows: Row 91583644 (NC_000023.10:13740328::GC 390/11002) Row 91583645 (NC_000023.10:13740328::G 1/11002) Row 91583646 (NC_000023.10:13740328::GCAAAAAAAAAAAAG 2/11002)	-	Apr 26, 2021 (155)
18	8.3KJPN Submission ignored due to conflicting rows: Row 91583644 (NC_000023.10:13740328::GC 390/11002) Row 91583645 (NC_000023.10:13740328::G 1/11002) Row 91583646 (NC_000023.10:13740328::GCAAAAAAAAAAAAG 2/11002)	-	Apr 26, 2021 (155)
19	8.3KJPN Submission ignored due to conflicting rows: Row 91583644 (NC_000023.10:13740328::GC 390/11002) Row 91583645 (NC_000023.10:13740328::G 1/11002) Row 91583646 (NC_000023.10:13740328::GCAAAAAAAAAAAAG 2/11002)	-	Apr 26, 2021 (155)
20	14KJPN Submission ignored due to conflicting rows: Row 128904023 (NC_000023.11:13722209::GC 617/20395) Row 128904024 (NC_000023.11:13722209::G 5/20395)	-	Oct 16, 2022 (156)
21	14KJPN Submission ignored due to conflicting rows: Row 128904023 (NC_000023.11:13722209::GC 617/20395) Row 128904024 (NC_000023.11:13722209::G 5/20395)	-	Oct 16, 2022 (156)
22	ALFA	NC_000023.11 - 13722210	Apr 26, 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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss5233614338	NC_000023.10:13740328::G	NC_000023.11:13722209::G	(self)
681093028, ss4368226688, ss5795066920	NC_000023.11:13722209::G	NC_000023.11:13722209::G	(self)
48548705, ss3941371311, ss5233614337	NC_000023.10:13740328::GC	NC_000023.11:13722209::GC	(self)
681093028, ss4368226689, ss5311859956, ss5503603218, ss5795066919, ss5818899800	NC_000023.11:13722209::GC	NC_000023.11:13722209::GC	(self)
ss4368226690	NC_000023.11:13722209::GCAAAAAAAAA… NC_000023.11:13722209::GCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	NC_000023.11:13722209::GCAAAAAAAAA… NC_000023.11:13722209::GCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	(self)
ss5233614339	NC_000023.10:13740328::GCAAAAAAAAA… NC_000023.10:13740328::GCAAAAAAAAAAAAG	NC_000023.11:13722209::GCAAAAAAAAA… NC_000023.11:13722209::GCAAAAAAAAAAAAG	(self)
681093028	NC_000023.11:13722209::GCAGC	NC_000023.11:13722209::GCAGC	(self)
681093028	NC_000023.11:13722209::GCC	NC_000023.11:13722209::GCC	(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 rs1491540340

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1491540340