Name: rs35262082
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.

rs35262082

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr15:49472021-49472034 (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: delAAA / delAA / delA / dupA / dup…
delAAA / delAA / delA / dupA / dupAA
Variation Type: Indel Insertion and Deletion
Frequency: delAAA=0.0 (0/2, ALFA)
delAA=0.0 (0/2, ALFA)
delA=0.0 (0/2, ALFA) (+ 1 more)
dupA=0.0 (0/2, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: FAM227B : Intron Variant
FGF7 : 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	Alt HMOZ	HTRZ	HWEP
Total	Global	2	AAAAAAAAAAAAAA=1.0	AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
European	Sub	0	AAAAAAAAAAAAAA=0	AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0	0	0	0	N/A
African	Sub	2	AAAAAAAAAAAAAA=1.0	AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
African Others	Sub	0	AAAAAAAAAAAAAA=0	AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0	0	0	0	N/A
African American	Sub	2	AAAAAAAAAAAAAA=1.0	AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Asian	Sub	0	AAAAAAAAAAAAAA=0	AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0	0	0	0	N/A
East Asian	Sub	0	AAAAAAAAAAAAAA=0	AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0	0	0	0	N/A
Other Asian	Sub	0	AAAAAAAAAAAAAA=0	AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 1	Sub	0	AAAAAAAAAAAAAA=0	AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 2	Sub	0	AAAAAAAAAAAAAA=0	AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0	0	0	0	N/A
South Asian	Sub	0	AAAAAAAAAAAAAA=0	AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0	0	0	0	N/A
Other	Sub	0	AAAAAAAAAAAAAA=0	AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0	0	0	0	N/A

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	2	(A)₁₄=1.0	delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0
Allele Frequency Aggregator	African	Sub	2	(A)₁₄=1.0	delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0
Allele Frequency Aggregator	European	Sub	0	(A)₁₄=0	delAAA=0, delAA=0, delA=0, dupA=0
Allele Frequency Aggregator	Latin American 1	Sub	0	(A)₁₄=0	delAAA=0, delAA=0, delA=0, dupA=0
Allele Frequency Aggregator	Latin American 2	Sub	0	(A)₁₄=0	delAAA=0, delAA=0, delA=0, dupA=0
Allele Frequency Aggregator	South Asian	Sub	0	(A)₁₄=0	delAAA=0, delAA=0, delA=0, dupA=0
Allele Frequency Aggregator	Other	Sub	0	(A)₁₄=0	delAAA=0, delAA=0, delA=0, dupA=0
Allele Frequency Aggregator	Asian	Sub	0	(A)₁₄=0	delAAA=0, delAA=0, delA=0, dupA=0

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 15	NC_000015.10:g.49472032_49472034del
GRCh38.p14 chr 15	NC_000015.10:g.49472033_49472034del
GRCh38.p14 chr 15	NC_000015.10:g.49472034del
GRCh38.p14 chr 15	NC_000015.10:g.49472034dup
GRCh38.p14 chr 15	NC_000015.10:g.49472033_49472034dup
GRCh37.p13 chr 15	NC_000015.9:g.49764229_49764231del
GRCh37.p13 chr 15	NC_000015.9:g.49764230_49764231del
GRCh37.p13 chr 15	NC_000015.9:g.49764231del
GRCh37.p13 chr 15	NC_000015.9:g.49764231dup
GRCh37.p13 chr 15	NC_000015.9:g.49764230_49764231dup
FGF7 RefSeqGene	NG_029159.1:g.53855_53857del
FGF7 RefSeqGene	NG_029159.1:g.53856_53857del
FGF7 RefSeqGene	NG_029159.1:g.53857del
FGF7 RefSeqGene	NG_029159.1:g.53857dup
FGF7 RefSeqGene	NG_029159.1:g.53856_53857dup

Gene: FAM227B, family with sequence similarity 227 member B (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
FAM227B transcript variant 2	NM_001330293.2:c.910+3618… NM_001330293.2:c.910+36188_910+36190del	N/A	Intron Variant
FAM227B transcript variant 1	NM_152647.3:c.1012+36188_… NM_152647.3:c.1012+36188_1012+36190del	N/A	Intron Variant
FAM227B transcript variant X2	XM_005254213.4:c.1012+361… XM_005254213.4:c.1012+36188_1012+36190del	N/A	Intron Variant
FAM227B transcript variant X1	XM_005254214.4:c.1012+361… XM_005254214.4:c.1012+36188_1012+36190del	N/A	Intron Variant
FAM227B transcript variant X5	XM_005254215.4:c.976+3618… XM_005254215.4:c.976+36188_976+36190del	N/A	Intron Variant
FAM227B transcript variant X6	XM_005254216.4:c.910+3618… XM_005254216.4:c.910+36188_910+36190del	N/A	Intron Variant
FAM227B transcript variant X4	XM_006720423.4:c.1012+361… XM_006720423.4:c.1012+36188_1012+36190del	N/A	Intron Variant
FAM227B transcript variant X8	XM_006720426.3:c.871+3618… XM_006720426.3:c.871+36188_871+36190del	N/A	Intron Variant
FAM227B transcript variant X16	XM_011521320.2:c.610+3618… XM_011521320.2:c.610+36188_610+36190del	N/A	Intron Variant
FAM227B transcript variant X17	XM_011521321.3:c.1012+361… XM_011521321.3:c.1012+36188_1012+36190del	N/A	Intron Variant
FAM227B transcript variant X18	XM_011521322.2:c.574+3618… XM_011521322.2:c.574+36188_574+36190del	N/A	Intron Variant
FAM227B transcript variant X23	XM_011521324.2:c.1012+361… XM_011521324.2:c.1012+36188_1012+36190del	N/A	Intron Variant
FAM227B transcript variant X22	XM_011521325.4:c.1013-327… XM_011521325.4:c.1013-32766_1013-32764del	N/A	Intron Variant
FAM227B transcript variant X10	XM_017021990.2:c.769+3618… XM_017021990.2:c.769+36188_769+36190del	N/A	Intron Variant
FAM227B transcript variant X12	XM_017021994.2:c.670+3618… XM_017021994.2:c.670+36188_670+36190del	N/A	Intron Variant
FAM227B transcript variant X14	XM_017021995.2:c.1012+361… XM_017021995.2:c.1012+36188_1012+36190del	N/A	Intron Variant
FAM227B transcript variant X15	XM_017021996.2:c.610+3618… XM_017021996.2:c.610+36188_610+36190del	N/A	Intron Variant
FAM227B transcript variant X26	XM_024449865.2:c.871+3618… XM_024449865.2:c.871+36188_871+36190del	N/A	Intron Variant
FAM227B transcript variant X3	XM_047432220.1:c.1012+361… XM_047432220.1:c.1012+36188_1012+36190del	N/A	Intron Variant
FAM227B transcript variant X7	XM_047432221.1:c.874+3618… XM_047432221.1:c.874+36188_874+36190del	N/A	Intron Variant
FAM227B transcript variant X9	XM_047432222.1:c.871+3618… XM_047432222.1:c.871+36188_871+36190del	N/A	Intron Variant
FAM227B transcript variant X11	XM_047432223.1:c.763+3618… XM_047432223.1:c.763+36188_763+36190del	N/A	Intron Variant
FAM227B transcript variant X13	XM_047432224.1:c.670+3618… XM_047432224.1:c.670+36188_670+36190del	N/A	Intron Variant
FAM227B transcript variant X19	XM_047432225.1:c.1012+361… XM_047432225.1:c.1012+36188_1012+36190del	N/A	Intron Variant
FAM227B transcript variant X20	XM_047432226.1:c.1012+361… XM_047432226.1:c.1012+36188_1012+36190del	N/A	Intron Variant
FAM227B transcript variant X21	XM_047432227.1:c.1012+361… XM_047432227.1:c.1012+36188_1012+36190del	N/A	Intron Variant
FAM227B transcript variant X25	XM_047432228.1:c.976+3618… XM_047432228.1:c.976+36188_976+36190del	N/A	Intron Variant
FAM227B transcript variant X24	XM_024449863.2:c.	N/A	Genic Downstream Transcript Variant

Gene: FGF7, fibroblast growth factor 7 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
FGF7 transcript	NM_002009.4:c.287-11119_2… NM_002009.4:c.287-11119_287-11117del	N/A	Intron 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	(A)₁₄=	delAAA	delAA	delA	dupA	dupAA
GRCh38.p14 chr 15	NC_000015.10:g.49472021_49472034=	NC_000015.10:g.49472032_49472034del	NC_000015.10:g.49472033_49472034del	NC_000015.10:g.49472034del	NC_000015.10:g.49472034dup	NC_000015.10:g.49472033_49472034dup
GRCh37.p13 chr 15	NC_000015.9:g.49764218_49764231=	NC_000015.9:g.49764229_49764231del	NC_000015.9:g.49764230_49764231del	NC_000015.9:g.49764231del	NC_000015.9:g.49764231dup	NC_000015.9:g.49764230_49764231dup
FGF7 RefSeqGene	NG_029159.1:g.53844_53857=	NG_029159.1:g.53855_53857del	NG_029159.1:g.53856_53857del	NG_029159.1:g.53857del	NG_029159.1:g.53857dup	NG_029159.1:g.53856_53857dup
FAM227B transcript variant 2	NM_001330293.2:c.910+36190=	NM_001330293.2:c.910+36188_910+36190del	NM_001330293.2:c.910+36189_910+36190del	NM_001330293.2:c.910+36190del	NM_001330293.2:c.910+36190dup	NM_001330293.2:c.910+36189_910+36190dup
FGF7 transcript	NM_002009.3:c.287-11130=	NM_002009.3:c.287-11119_287-11117del	NM_002009.3:c.287-11118_287-11117del	NM_002009.3:c.287-11117del	NM_002009.3:c.287-11117dup	NM_002009.3:c.287-11118_287-11117dup
FGF7 transcript	NM_002009.4:c.287-11130=	NM_002009.4:c.287-11119_287-11117del	NM_002009.4:c.287-11118_287-11117del	NM_002009.4:c.287-11117del	NM_002009.4:c.287-11117dup	NM_002009.4:c.287-11118_287-11117dup
FAM227B transcript variant 1	NM_152647.2:c.1012+36190=	NM_152647.2:c.1012+36188_1012+36190del	NM_152647.2:c.1012+36189_1012+36190del	NM_152647.2:c.1012+36190del	NM_152647.2:c.1012+36190dup	NM_152647.2:c.1012+36189_1012+36190dup
FAM227B transcript variant 1	NM_152647.3:c.1012+36190=	NM_152647.3:c.1012+36188_1012+36190del	NM_152647.3:c.1012+36189_1012+36190del	NM_152647.3:c.1012+36190del	NM_152647.3:c.1012+36190dup	NM_152647.3:c.1012+36189_1012+36190dup
FAM227B transcript variant X1	XM_005254213.1:c.1012+36190=	XM_005254213.1:c.1012+36188_1012+36190del	XM_005254213.1:c.1012+36189_1012+36190del	XM_005254213.1:c.1012+36190del	XM_005254213.1:c.1012+36190dup	XM_005254213.1:c.1012+36189_1012+36190dup
FAM227B transcript variant X2	XM_005254213.4:c.1012+36190=	XM_005254213.4:c.1012+36188_1012+36190del	XM_005254213.4:c.1012+36189_1012+36190del	XM_005254213.4:c.1012+36190del	XM_005254213.4:c.1012+36190dup	XM_005254213.4:c.1012+36189_1012+36190dup
FAM227B transcript variant X2	XM_005254214.1:c.1012+36190=	XM_005254214.1:c.1012+36188_1012+36190del	XM_005254214.1:c.1012+36189_1012+36190del	XM_005254214.1:c.1012+36190del	XM_005254214.1:c.1012+36190dup	XM_005254214.1:c.1012+36189_1012+36190dup
FAM227B transcript variant X1	XM_005254214.4:c.1012+36190=	XM_005254214.4:c.1012+36188_1012+36190del	XM_005254214.4:c.1012+36189_1012+36190del	XM_005254214.4:c.1012+36190del	XM_005254214.4:c.1012+36190dup	XM_005254214.4:c.1012+36189_1012+36190dup
FAM227B transcript variant X3	XM_005254215.1:c.976+36190=	XM_005254215.1:c.976+36188_976+36190del	XM_005254215.1:c.976+36189_976+36190del	XM_005254215.1:c.976+36190del	XM_005254215.1:c.976+36190dup	XM_005254215.1:c.976+36189_976+36190dup
FAM227B transcript variant X5	XM_005254215.4:c.976+36190=	XM_005254215.4:c.976+36188_976+36190del	XM_005254215.4:c.976+36189_976+36190del	XM_005254215.4:c.976+36190del	XM_005254215.4:c.976+36190dup	XM_005254215.4:c.976+36189_976+36190dup
FAM227B transcript variant X4	XM_005254216.1:c.910+36190=	XM_005254216.1:c.910+36188_910+36190del	XM_005254216.1:c.910+36189_910+36190del	XM_005254216.1:c.910+36190del	XM_005254216.1:c.910+36190dup	XM_005254216.1:c.910+36189_910+36190dup
FAM227B transcript variant X6	XM_005254216.4:c.910+36190=	XM_005254216.4:c.910+36188_910+36190del	XM_005254216.4:c.910+36189_910+36190del	XM_005254216.4:c.910+36190del	XM_005254216.4:c.910+36190dup	XM_005254216.4:c.910+36189_910+36190dup
FAM227B transcript variant X5	XM_005254217.1:c.763+36190=	XM_005254217.1:c.763+36188_763+36190del	XM_005254217.1:c.763+36189_763+36190del	XM_005254217.1:c.763+36190del	XM_005254217.1:c.763+36190dup	XM_005254217.1:c.763+36189_763+36190dup
FAM227B transcript variant X6	XM_005254218.1:c.610+36190=	XM_005254218.1:c.610+36188_610+36190del	XM_005254218.1:c.610+36189_610+36190del	XM_005254218.1:c.610+36190del	XM_005254218.1:c.610+36190dup	XM_005254218.1:c.610+36189_610+36190dup
FAM227B transcript variant X7	XM_005254219.1:c.1012+36190=	XM_005254219.1:c.1012+36188_1012+36190del	XM_005254219.1:c.1012+36189_1012+36190del	XM_005254219.1:c.1012+36190del	XM_005254219.1:c.1012+36190dup	XM_005254219.1:c.1012+36189_1012+36190dup
FAM227B transcript variant X9	XM_005254221.1:c.910+36190=	XM_005254221.1:c.910+36188_910+36190del	XM_005254221.1:c.910+36189_910+36190del	XM_005254221.1:c.910+36190del	XM_005254221.1:c.910+36190dup	XM_005254221.1:c.910+36189_910+36190dup
FAM227B transcript variant X4	XM_006720423.4:c.1012+36190=	XM_006720423.4:c.1012+36188_1012+36190del	XM_006720423.4:c.1012+36189_1012+36190del	XM_006720423.4:c.1012+36190del	XM_006720423.4:c.1012+36190dup	XM_006720423.4:c.1012+36189_1012+36190dup
FAM227B transcript variant X8	XM_006720426.3:c.871+36190=	XM_006720426.3:c.871+36188_871+36190del	XM_006720426.3:c.871+36189_871+36190del	XM_006720426.3:c.871+36190del	XM_006720426.3:c.871+36190dup	XM_006720426.3:c.871+36189_871+36190dup
FAM227B transcript variant X16	XM_011521320.2:c.610+36190=	XM_011521320.2:c.610+36188_610+36190del	XM_011521320.2:c.610+36189_610+36190del	XM_011521320.2:c.610+36190del	XM_011521320.2:c.610+36190dup	XM_011521320.2:c.610+36189_610+36190dup
FAM227B transcript variant X17	XM_011521321.3:c.1012+36190=	XM_011521321.3:c.1012+36188_1012+36190del	XM_011521321.3:c.1012+36189_1012+36190del	XM_011521321.3:c.1012+36190del	XM_011521321.3:c.1012+36190dup	XM_011521321.3:c.1012+36189_1012+36190dup
FAM227B transcript variant X18	XM_011521322.2:c.574+36190=	XM_011521322.2:c.574+36188_574+36190del	XM_011521322.2:c.574+36189_574+36190del	XM_011521322.2:c.574+36190del	XM_011521322.2:c.574+36190dup	XM_011521322.2:c.574+36189_574+36190dup
FAM227B transcript variant X23	XM_011521324.2:c.1012+36190=	XM_011521324.2:c.1012+36188_1012+36190del	XM_011521324.2:c.1012+36189_1012+36190del	XM_011521324.2:c.1012+36190del	XM_011521324.2:c.1012+36190dup	XM_011521324.2:c.1012+36189_1012+36190dup
FAM227B transcript variant X22	XM_011521325.4:c.1013-32764=	XM_011521325.4:c.1013-32766_1013-32764del	XM_011521325.4:c.1013-32765_1013-32764del	XM_011521325.4:c.1013-32764del	XM_011521325.4:c.1013-32764dup	XM_011521325.4:c.1013-32765_1013-32764dup
FAM227B transcript variant X10	XM_017021990.2:c.769+36190=	XM_017021990.2:c.769+36188_769+36190del	XM_017021990.2:c.769+36189_769+36190del	XM_017021990.2:c.769+36190del	XM_017021990.2:c.769+36190dup	XM_017021990.2:c.769+36189_769+36190dup
FAM227B transcript variant X12	XM_017021994.2:c.670+36190=	XM_017021994.2:c.670+36188_670+36190del	XM_017021994.2:c.670+36189_670+36190del	XM_017021994.2:c.670+36190del	XM_017021994.2:c.670+36190dup	XM_017021994.2:c.670+36189_670+36190dup
FAM227B transcript variant X14	XM_017021995.2:c.1012+36190=	XM_017021995.2:c.1012+36188_1012+36190del	XM_017021995.2:c.1012+36189_1012+36190del	XM_017021995.2:c.1012+36190del	XM_017021995.2:c.1012+36190dup	XM_017021995.2:c.1012+36189_1012+36190dup
FAM227B transcript variant X15	XM_017021996.2:c.610+36190=	XM_017021996.2:c.610+36188_610+36190del	XM_017021996.2:c.610+36189_610+36190del	XM_017021996.2:c.610+36190del	XM_017021996.2:c.610+36190dup	XM_017021996.2:c.610+36189_610+36190dup
FAM227B transcript variant X26	XM_024449865.2:c.871+36190=	XM_024449865.2:c.871+36188_871+36190del	XM_024449865.2:c.871+36189_871+36190del	XM_024449865.2:c.871+36190del	XM_024449865.2:c.871+36190dup	XM_024449865.2:c.871+36189_871+36190dup
FAM227B transcript variant X3	XM_047432220.1:c.1012+36190=	XM_047432220.1:c.1012+36188_1012+36190del	XM_047432220.1:c.1012+36189_1012+36190del	XM_047432220.1:c.1012+36190del	XM_047432220.1:c.1012+36190dup	XM_047432220.1:c.1012+36189_1012+36190dup
FAM227B transcript variant X7	XM_047432221.1:c.874+36190=	XM_047432221.1:c.874+36188_874+36190del	XM_047432221.1:c.874+36189_874+36190del	XM_047432221.1:c.874+36190del	XM_047432221.1:c.874+36190dup	XM_047432221.1:c.874+36189_874+36190dup
FAM227B transcript variant X9	XM_047432222.1:c.871+36190=	XM_047432222.1:c.871+36188_871+36190del	XM_047432222.1:c.871+36189_871+36190del	XM_047432222.1:c.871+36190del	XM_047432222.1:c.871+36190dup	XM_047432222.1:c.871+36189_871+36190dup
FAM227B transcript variant X11	XM_047432223.1:c.763+36190=	XM_047432223.1:c.763+36188_763+36190del	XM_047432223.1:c.763+36189_763+36190del	XM_047432223.1:c.763+36190del	XM_047432223.1:c.763+36190dup	XM_047432223.1:c.763+36189_763+36190dup
FAM227B transcript variant X13	XM_047432224.1:c.670+36190=	XM_047432224.1:c.670+36188_670+36190del	XM_047432224.1:c.670+36189_670+36190del	XM_047432224.1:c.670+36190del	XM_047432224.1:c.670+36190dup	XM_047432224.1:c.670+36189_670+36190dup
FAM227B transcript variant X19	XM_047432225.1:c.1012+36190=	XM_047432225.1:c.1012+36188_1012+36190del	XM_047432225.1:c.1012+36189_1012+36190del	XM_047432225.1:c.1012+36190del	XM_047432225.1:c.1012+36190dup	XM_047432225.1:c.1012+36189_1012+36190dup
FAM227B transcript variant X20	XM_047432226.1:c.1012+36190=	XM_047432226.1:c.1012+36188_1012+36190del	XM_047432226.1:c.1012+36189_1012+36190del	XM_047432226.1:c.1012+36190del	XM_047432226.1:c.1012+36190dup	XM_047432226.1:c.1012+36189_1012+36190dup
FAM227B transcript variant X21	XM_047432227.1:c.1012+36190=	XM_047432227.1:c.1012+36188_1012+36190del	XM_047432227.1:c.1012+36189_1012+36190del	XM_047432227.1:c.1012+36190del	XM_047432227.1:c.1012+36190dup	XM_047432227.1:c.1012+36189_1012+36190dup
FAM227B transcript variant X25	XM_047432228.1:c.976+36190=	XM_047432228.1:c.976+36188_976+36190del	XM_047432228.1:c.976+36189_976+36190del	XM_047432228.1:c.976+36190del	XM_047432228.1:c.976+36190dup	XM_047432228.1:c.976+36189_976+36190dup

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#.

58 SubSNP, 18 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss40539344	Dec 03, 2013 (138)
2	ABI	ss40612846	Mar 15, 2016 (147)
3	HGSV	ss82005731	Dec 14, 2007 (129)
4	HUMANGENOME_JCVI	ss95657804	Feb 04, 2009 (130)
5	HUMANGENOME_JCVI	ss96787867	Dec 05, 2013 (138)
6	BCMHGSC_JDW	ss103575384	Mar 15, 2016 (147)
7	BUSHMAN	ss193382519	Jul 04, 2010 (132)
8	GMI	ss287927540	May 09, 2011 (134)
9	GMI	ss287927541	Mar 15, 2016 (147)
10	GMI	ss289256290	May 04, 2012 (137)
11	GMI	ss289256291	May 04, 2012 (138)
12	PJP	ss294858801	May 09, 2011 (134)
13	PJP	ss294858802	May 09, 2011 (134)
14	BILGI_BIOE	ss666647914	Apr 25, 2013 (138)
15	DDI	ss1536805776	Apr 01, 2015 (144)
16	EVA_UK10K_ALSPAC	ss1708286354	Apr 01, 2015 (144)
17	EVA_UK10K_TWINSUK	ss1708286439	Apr 01, 2015 (144)
18	EVA_UK10K_TWINSUK	ss1710665827	Apr 01, 2015 (144)
19	EVA_UK10K_TWINSUK	ss1710665829	Apr 01, 2015 (144)
20	EVA_UK10K_ALSPAC	ss1710665837	Apr 01, 2015 (144)
21	EVA_UK10K_ALSPAC	ss1710665838	Apr 01, 2015 (144)
22	HAMMER_LAB	ss1808195325	Sep 08, 2015 (146)
23	SWEGEN	ss3013252957	Nov 08, 2017 (151)
24	MCHAISSO	ss3063817816	Nov 08, 2017 (151)
25	MCHAISSO	ss3064655173	Nov 08, 2017 (151)
26	MCHAISSO	ss3065586648	Nov 08, 2017 (151)
27	BEROUKHIMLAB	ss3644387215	Oct 12, 2018 (152)
28	BIOINF_KMB_FNS_UNIBA	ss3645381267	Oct 12, 2018 (152)
29	EVA_DECODE	ss3697856752	Jul 13, 2019 (153)
30	EVA_DECODE	ss3697856753	Jul 13, 2019 (153)
31	EVA_DECODE	ss3697856754	Jul 13, 2019 (153)
32	ACPOP	ss3740907232	Jul 13, 2019 (153)
33	ACPOP	ss3740907233	Jul 13, 2019 (153)
34	PACBIO	ss3787840404	Jul 13, 2019 (153)
35	PACBIO	ss3787840405	Jul 13, 2019 (153)
36	PACBIO	ss3792852995	Jul 13, 2019 (153)
37	PACBIO	ss3792852996	Jul 13, 2019 (153)
38	PACBIO	ss3797737474	Jul 13, 2019 (153)
39	PACBIO	ss3797737475	Jul 13, 2019 (153)
40	KHV_HUMAN_GENOMES	ss3818380027	Jul 13, 2019 (153)
41	EVA	ss3834224871	Apr 27, 2020 (154)
42	GNOMAD	ss4288471876	Apr 26, 2021 (155)
43	GNOMAD	ss4288471877	Apr 26, 2021 (155)
44	GNOMAD	ss4288471878	Apr 26, 2021 (155)
45	GNOMAD	ss4288471879	Apr 26, 2021 (155)
46	TOMMO_GENOMICS	ss5216111112	Apr 26, 2021 (155)
47	TOMMO_GENOMICS	ss5216111113	Apr 26, 2021 (155)
48	TOMMO_GENOMICS	ss5216111114	Apr 26, 2021 (155)
49	1000G_HIGH_COVERAGE	ss5298378858	Oct 17, 2022 (156)
50	1000G_HIGH_COVERAGE	ss5298378859	Oct 17, 2022 (156)
51	HUGCELL_USP	ss5492114608	Oct 17, 2022 (156)
52	HUGCELL_USP	ss5492114609	Oct 17, 2022 (156)
53	TOMMO_GENOMICS	ss5769893550	Oct 17, 2022 (156)
54	TOMMO_GENOMICS	ss5769893551	Oct 17, 2022 (156)
55	TOMMO_GENOMICS	ss5769893552	Oct 17, 2022 (156)
56	EVA	ss5828177376	Oct 17, 2022 (156)
57	EVA	ss5828177377	Oct 17, 2022 (156)
58	EVA	ss5828177378	Oct 17, 2022 (156)
59	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 36893312 (NC_000015.9:49764218:A: 1540/3854) Row 36893313 (NC_000015.9:49764217:AAA: 79/3854)	-	Oct 12, 2018 (152)
60	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 36893312 (NC_000015.9:49764218:A: 1540/3854) Row 36893313 (NC_000015.9:49764217:AAA: 79/3854)	-	Oct 12, 2018 (152)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 468551282 (NC_000015.10:49472020::AA 1/132640) Row 468551283 (NC_000015.10:49472020:A: 96673/132462) Row 468551284 (NC_000015.10:49472020:AA: 34932/132448)...	-	Apr 26, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 468551282 (NC_000015.10:49472020::AA 1/132640) Row 468551283 (NC_000015.10:49472020:A: 96673/132462) Row 468551284 (NC_000015.10:49472020:AA: 34932/132448)...	-	Apr 26, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 468551282 (NC_000015.10:49472020::AA 1/132640) Row 468551283 (NC_000015.10:49472020:A: 96673/132462) Row 468551284 (NC_000015.10:49472020:AA: 34932/132448)...	-	Apr 26, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 468551282 (NC_000015.10:49472020::AA 1/132640) Row 468551283 (NC_000015.10:49472020:A: 96673/132462) Row 468551284 (NC_000015.10:49472020:AA: 34932/132448)...	-	Apr 26, 2021 (155)
65	Northern Sweden Submission ignored due to conflicting rows: Row 14192097 (NC_000015.9:49764217:AA: 196/560) Row 14192098 (NC_000015.9:49764217:A: 323/560)	-	Jul 13, 2019 (153)
66	Northern Sweden Submission ignored due to conflicting rows: Row 14192097 (NC_000015.9:49764217:AA: 196/560) Row 14192098 (NC_000015.9:49764217:A: 323/560)	-	Jul 13, 2019 (153)
67	8.3KJPN Submission ignored due to conflicting rows: Row 74080419 (NC_000015.9:49764217:A: 14291/16760) Row 74080420 (NC_000015.9:49764217:AA: 2450/16760) Row 74080421 (NC_000015.9:49764217:AAA: 2/16760)	-	Apr 26, 2021 (155)
68	8.3KJPN Submission ignored due to conflicting rows: Row 74080419 (NC_000015.9:49764217:A: 14291/16760) Row 74080420 (NC_000015.9:49764217:AA: 2450/16760) Row 74080421 (NC_000015.9:49764217:AAA: 2/16760)	-	Apr 26, 2021 (155)
69	8.3KJPN Submission ignored due to conflicting rows: Row 74080419 (NC_000015.9:49764217:A: 14291/16760) Row 74080420 (NC_000015.9:49764217:AA: 2450/16760) Row 74080421 (NC_000015.9:49764217:AAA: 2/16760)	-	Apr 26, 2021 (155)
70	14KJPN Submission ignored due to conflicting rows: Row 103730654 (NC_000015.10:49472020:AA: 4090/28258) Row 103730655 (NC_000015.10:49472020:A: 24141/28258) Row 103730656 (NC_000015.10:49472020:AAA: 5/28258)	-	Oct 17, 2022 (156)
71	14KJPN Submission ignored due to conflicting rows: Row 103730654 (NC_000015.10:49472020:AA: 4090/28258) Row 103730655 (NC_000015.10:49472020:A: 24141/28258) Row 103730656 (NC_000015.10:49472020:AAA: 5/28258)	-	Oct 17, 2022 (156)
72	14KJPN Submission ignored due to conflicting rows: Row 103730654 (NC_000015.10:49472020:AA: 4090/28258) Row 103730655 (NC_000015.10:49472020:A: 24141/28258) Row 103730656 (NC_000015.10:49472020:AAA: 5/28258)	-	Oct 17, 2022 (156)
73	UK 10K study - Twins Submission ignored due to conflicting rows: Row 36893311 (NC_000015.9:49764219:A: 2143/3708) Row 36893312 (NC_000015.9:49764218:AA: 1500/3708) Row 36893313 (NC_000015.9:49764217:AAA: 65/3708)	-	Apr 27, 2020 (154)
74	UK 10K study - Twins Submission ignored due to conflicting rows: Row 36893312 (NC_000015.9:49764218:A: 1500/3708) Row 36893313 (NC_000015.9:49764217:AAA: 65/3708)	-	Oct 12, 2018 (152)
75	UK 10K study - Twins Submission ignored due to conflicting rows: Row 36893312 (NC_000015.9:49764218:A: 1500/3708) Row 36893313 (NC_000015.9:49764217:AAA: 65/3708)	-	Oct 12, 2018 (152)
76	ALFA	NC_000015.10 - 49472021	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).

Associated ID	History Updated (Build)
rs35811105	Apr 25, 2013 (138)
rs143792034	Oct 12, 2011 (135)
rs200343477	May 11, 2012 (137)
rs71432292	Dec 02, 2009 (131)
rs79729219	Oct 14, 2011 (136)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss1708286354, ss1708286439, ss5216111114, ss5828177378	NC_000015.9:49764217:AAA:	NC_000015.10:49472020:AAAAAAAAAAAA… NC_000015.10:49472020:AAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss3697856754, ss4288471879, ss5769893552	NC_000015.10:49472020:AAA:	NC_000015.10:49472020:AAAAAAAAAAAA… NC_000015.10:49472020:AAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
5089466277	NC_000015.10:49472020:AAAAAAAAAAAA… NC_000015.10:49472020:AAAAAAAAAAAAAA:AAAAAAAAAAA	NC_000015.10:49472020:AAAAAAAAAAAA… NC_000015.10:49472020:AAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss289256290	NC_000015.8:47551509:AA:	NC_000015.10:49472020:AAAAAAAAAAAA… NC_000015.10:49472020:AAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss666647914, ss1536805776, ss3013252957, ss3740907232, ss3787840405, ss3792852995, ss3797737474, ss5216111113, ss5828177377	NC_000015.9:49764217:AA:	NC_000015.10:49472020:AAAAAAAAAAAA… NC_000015.10:49472020:AAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss1710665829, ss1710665838	NC_000015.9:49764218:AA:	NC_000015.10:49472020:AAAAAAAAAAAA… NC_000015.10:49472020:AAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss4288471878, ss5298378859, ss5492114608, ss5769893550	NC_000015.10:49472020:AA:	NC_000015.10:49472020:AAAAAAAAAAAA… NC_000015.10:49472020:AAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
5089466277	NC_000015.10:49472020:AAAAAAAAAAAA… NC_000015.10:49472020:AAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000015.10:49472020:AAAAAAAAAAAA… NC_000015.10:49472020:AAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss3697856753	NC_000015.10:49472021:AA:	NC_000015.10:49472020:AAAAAAAAAAAA… NC_000015.10:49472020:AAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss40612846, ss287927541	NT_010194.17:20554774:AA:	NC_000015.10:49472020:AAAAAAAAAAAA… NC_000015.10:49472020:AAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss96787867, ss103575384	NT_010194.17:20554786:AA:	NC_000015.10:49472020:AAAAAAAAAAAA… NC_000015.10:49472020:AAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss289256291, ss294858801	NC_000015.8:47551509:A:	NC_000015.10:49472020:AAAAAAAAAAAA… NC_000015.10:49472020:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss82005731, ss294858802	NC_000015.8:47551522:A:	NC_000015.10:49472020:AAAAAAAAAAAA… NC_000015.10:49472020:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss1808195325, ss3644387215, ss3740907233, ss3787840404, ss3792852996, ss3797737475, ss3834224871, ss5216111112, ss5828177376	NC_000015.9:49764217:A:	NC_000015.10:49472020:AAAAAAAAAAAA… NC_000015.10:49472020:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
	NC_000015.9:49764218:A:	NC_000015.10:49472020:AAAAAAAAAAAA… NC_000015.10:49472020:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss1710665827, ss1710665837	NC_000015.9:49764219:A:	NC_000015.10:49472020:AAAAAAAAAAAA… NC_000015.10:49472020:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss3063817816, ss3064655173, ss3065586648, ss3645381267, ss3818380027, ss4288471877, ss5298378858, ss5492114609, ss5769893551	NC_000015.10:49472020:A:	NC_000015.10:49472020:AAAAAAAAAAAA… NC_000015.10:49472020:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
5089466277	NC_000015.10:49472020:AAAAAAAAAAAA… NC_000015.10:49472020:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000015.10:49472020:AAAAAAAAAAAA… NC_000015.10:49472020:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss3697856752	NC_000015.10:49472022:A:	NC_000015.10:49472020:AAAAAAAAAAAA… NC_000015.10:49472020:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss287927540	NT_010194.17:20554774:A:	NC_000015.10:49472020:AAAAAAAAAAAA… NC_000015.10:49472020:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss40612846	NT_010194.17:20554774:AA:A	NC_000015.10:49472020:AAAAAAAAAAAA… NC_000015.10:49472020:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss40539344	NT_010194.17:20554775:A:	NC_000015.10:49472020:AAAAAAAAAAAA… NC_000015.10:49472020:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss96787867	NT_010194.17:20554786:AA:A	NC_000015.10:49472020:AAAAAAAAAAAA… NC_000015.10:49472020:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss95657804	NT_010194.17:20554787:A:	NC_000015.10:49472020:AAAAAAAAAAAA… NC_000015.10:49472020:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss193382519	NT_010194.18:26195146:A:	NC_000015.10:49472020:AAAAAAAAAAAA… NC_000015.10:49472020:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
5089466277	NC_000015.10:49472020:AAAAAAAAAAAA… NC_000015.10:49472020:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000015.10:49472020:AAAAAAAAAAAA… NC_000015.10:49472020:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4288471876	NC_000015.10:49472020::AA	NC_000015.10:49472020:AAAAAAAAAAAA… NC_000015.10:49472020:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3227173713	NC_000015.10:49472020::A	NC_000015.10:49472020:AAAAAAAAAAAA… NC_000015.10:49472020:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs35262082

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs35262082