Name: rs775748401
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.

rs775748401

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr4:68666753-68666764 (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: del(T)₄ / delTTT / delTT / delT / …
del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₄ / dup(T)₅ / dup(T)₆ / dup(T)₇ / dup(T)₈ / dup(T)₉
Variation Type: Indel Insertion and Deletion
Frequency: dupT=0.04686 (495/10564, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: UGT2B15 : 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	10564	TTTTTTTTTTTT=0.93544	TTTTTTTT=0.00000, TTTTTTTTT=0.00000, TTTTTTTTTT=0.00000, TTTTTTTTTTT=0.00000, TTTTTTTTTTTTT=0.04686, TTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.00464, TTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTT=0.00549, TTTTTTTTTTTTTTTTTT=0.00303, TTTTTTTTTTTTTTTTTTT=0.00454, TTTTTTTTTTTTTTTTTTTT=0.00000	0.95688	0.009512	0.033608	32
European	Sub	7128	TTTTTTTTTTTT=0.9045	TTTTTTTT=0.0000, TTTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0694, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0067, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0081, TTTTTTTTTTTTTTTTTT=0.0045, TTTTTTTTTTTTTTTTTTT=0.0067, TTTTTTTTTTTTTTTTTTTT=0.0000	0.932338	0.014925	0.052736	32
African	Sub	2326	TTTTTTTTTTTT=1.0000	TTTTTTTT=0.0000, TTTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	100	TTTTTTTTTTTT=1.00	TTTTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African American	Sub	2226	TTTTTTTTTTTT=1.0000	TTTTTTTT=0.0000, TTTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	106	TTTTTTTTTTTT=1.000	TTTTTTTT=0.000, TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
East Asian	Sub	84	TTTTTTTTTTTT=1.00	TTTTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	22	TTTTTTTTTTTT=1.00	TTTTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	110	TTTTTTTTTTTT=1.000	TTTTTTTT=0.000, TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Latin American 2	Sub	482	TTTTTTTTTTTT=1.000	TTTTTTTT=0.000, TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	68	TTTTTTTTTTTT=1.00	TTTTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	344	TTTTTTTTTTTT=0.997	TTTTTTTT=0.000, TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.003, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000	1.0	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").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	10564	(T)₁₂=0.93544	del(T)₄=0.00000, delTTT=0.00000, delTT=0.00000, delT=0.00000, dupT=0.04686, dupTT=0.00000, dupTTT=0.00464, dup(T)₄=0.00000, dup(T)₅=0.00549, dup(T)₆=0.00303, dup(T)₇=0.00454, dup(T)₈=0.00000
Allele Frequency Aggregator	European	Sub	7128	(T)₁₂=0.9045	del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0694, dupTT=0.0000, dupTTT=0.0067, dup(T)₄=0.0000, dup(T)₅=0.0081, dup(T)₆=0.0045, dup(T)₇=0.0067, dup(T)₈=0.0000
Allele Frequency Aggregator	African	Sub	2326	(T)₁₂=1.0000	del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000, dup(T)₄=0.0000, dup(T)₅=0.0000, dup(T)₆=0.0000, dup(T)₇=0.0000, dup(T)₈=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	482	(T)₁₂=1.000	del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, dup(T)₅=0.000, dup(T)₆=0.000, dup(T)₇=0.000, dup(T)₈=0.000
Allele Frequency Aggregator	Other	Sub	344	(T)₁₂=0.997	del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.003, dup(T)₄=0.000, dup(T)₅=0.000, dup(T)₆=0.000, dup(T)₇=0.000, dup(T)₈=0.000
Allele Frequency Aggregator	Latin American 1	Sub	110	(T)₁₂=1.000	del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, dup(T)₅=0.000, dup(T)₆=0.000, dup(T)₇=0.000, dup(T)₈=0.000
Allele Frequency Aggregator	Asian	Sub	106	(T)₁₂=1.000	del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, dup(T)₅=0.000, dup(T)₆=0.000, dup(T)₇=0.000, dup(T)₈=0.000
Allele Frequency Aggregator	South Asian	Sub	68	(T)₁₂=1.00	del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00, dup(T)₆=0.00, dup(T)₇=0.00, dup(T)₈=0.00

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 4	NC_000004.12:g.68666761_68666764del
GRCh38.p14 chr 4	NC_000004.12:g.68666762_68666764del
GRCh38.p14 chr 4	NC_000004.12:g.68666763_68666764del
GRCh38.p14 chr 4	NC_000004.12:g.68666764del
GRCh38.p14 chr 4	NC_000004.12:g.68666764dup
GRCh38.p14 chr 4	NC_000004.12:g.68666763_68666764dup
GRCh38.p14 chr 4	NC_000004.12:g.68666762_68666764dup
GRCh38.p14 chr 4	NC_000004.12:g.68666761_68666764dup
GRCh38.p14 chr 4	NC_000004.12:g.68666760_68666764dup
GRCh38.p14 chr 4	NC_000004.12:g.68666759_68666764dup
GRCh38.p14 chr 4	NC_000004.12:g.68666758_68666764dup
GRCh38.p14 chr 4	NC_000004.12:g.68666757_68666764dup
GRCh38.p14 chr 4	NC_000004.12:g.68666756_68666764dup
GRCh37.p13 chr 4	NC_000004.11:g.69532479_69532482del
GRCh37.p13 chr 4	NC_000004.11:g.69532480_69532482del
GRCh37.p13 chr 4	NC_000004.11:g.69532481_69532482del
GRCh37.p13 chr 4	NC_000004.11:g.69532482del
GRCh37.p13 chr 4	NC_000004.11:g.69532482dup
GRCh37.p13 chr 4	NC_000004.11:g.69532481_69532482dup
GRCh37.p13 chr 4	NC_000004.11:g.69532480_69532482dup
GRCh37.p13 chr 4	NC_000004.11:g.69532479_69532482dup
GRCh37.p13 chr 4	NC_000004.11:g.69532478_69532482dup
GRCh37.p13 chr 4	NC_000004.11:g.69532477_69532482dup
GRCh37.p13 chr 4	NC_000004.11:g.69532476_69532482dup
GRCh37.p13 chr 4	NC_000004.11:g.69532475_69532482dup
GRCh37.p13 chr 4	NC_000004.11:g.69532474_69532482dup
UGT2B15 RefSeqGene	NG_052676.1:g.9021_9024del
UGT2B15 RefSeqGene	NG_052676.1:g.9022_9024del
UGT2B15 RefSeqGene	NG_052676.1:g.9023_9024del
UGT2B15 RefSeqGene	NG_052676.1:g.9024del
UGT2B15 RefSeqGene	NG_052676.1:g.9024dup
UGT2B15 RefSeqGene	NG_052676.1:g.9023_9024dup
UGT2B15 RefSeqGene	NG_052676.1:g.9022_9024dup
UGT2B15 RefSeqGene	NG_052676.1:g.9021_9024dup
UGT2B15 RefSeqGene	NG_052676.1:g.9020_9024dup
UGT2B15 RefSeqGene	NG_052676.1:g.9019_9024dup
UGT2B15 RefSeqGene	NG_052676.1:g.9018_9024dup
UGT2B15 RefSeqGene	NG_052676.1:g.9017_9024dup
UGT2B15 RefSeqGene	NG_052676.1:g.9016_9024dup
GRCh38.p14 chr 4 alt locus HSCHR4_1_CTG9	NT_167250.2:g.243117_243120del
GRCh38.p14 chr 4 alt locus HSCHR4_1_CTG9	NT_167250.2:g.243118_243120del
GRCh38.p14 chr 4 alt locus HSCHR4_1_CTG9	NT_167250.2:g.243119_243120del
GRCh38.p14 chr 4 alt locus HSCHR4_1_CTG9	NT_167250.2:g.243120del
GRCh38.p14 chr 4 alt locus HSCHR4_1_CTG9	NT_167250.2:g.243120dup
GRCh38.p14 chr 4 alt locus HSCHR4_1_CTG9	NT_167250.2:g.243119_243120dup
GRCh38.p14 chr 4 alt locus HSCHR4_1_CTG9	NT_167250.2:g.243118_243120dup
GRCh38.p14 chr 4 alt locus HSCHR4_1_CTG9	NT_167250.2:g.243117_243120dup
GRCh38.p14 chr 4 alt locus HSCHR4_1_CTG9	NT_167250.2:g.243116_243120dup
GRCh38.p14 chr 4 alt locus HSCHR4_1_CTG9	NT_167250.2:g.243115_243120dup
GRCh38.p14 chr 4 alt locus HSCHR4_1_CTG9	NT_167250.2:g.243114_243120dup
GRCh38.p14 chr 4 alt locus HSCHR4_1_CTG9	NT_167250.2:g.243113_243120dup
GRCh38.p14 chr 4 alt locus HSCHR4_1_CTG9	NT_167250.2:g.243112_243120dup
GRCh37.p13 chr 4 alt locus HSCHR4_1_CTG9	NT_167250.1:g.245067_245070del
GRCh37.p13 chr 4 alt locus HSCHR4_1_CTG9	NT_167250.1:g.245068_245070del
GRCh37.p13 chr 4 alt locus HSCHR4_1_CTG9	NT_167250.1:g.245069_245070del
GRCh37.p13 chr 4 alt locus HSCHR4_1_CTG9	NT_167250.1:g.245070del
GRCh37.p13 chr 4 alt locus HSCHR4_1_CTG9	NT_167250.1:g.245070dup
GRCh37.p13 chr 4 alt locus HSCHR4_1_CTG9	NT_167250.1:g.245069_245070dup
GRCh37.p13 chr 4 alt locus HSCHR4_1_CTG9	NT_167250.1:g.245068_245070dup
GRCh37.p13 chr 4 alt locus HSCHR4_1_CTG9	NT_167250.1:g.245067_245070dup
GRCh37.p13 chr 4 alt locus HSCHR4_1_CTG9	NT_167250.1:g.245066_245070dup
GRCh37.p13 chr 4 alt locus HSCHR4_1_CTG9	NT_167250.1:g.245065_245070dup
GRCh37.p13 chr 4 alt locus HSCHR4_1_CTG9	NT_167250.1:g.245064_245070dup
GRCh37.p13 chr 4 alt locus HSCHR4_1_CTG9	NT_167250.1:g.245063_245070dup
GRCh37.p13 chr 4 alt locus HSCHR4_1_CTG9	NT_167250.1:g.245062_245070dup

Gene: UGT2B15, UDP glucuronosyltransferase family 2 member B15 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
UGT2B15 transcript	NM_001076.4:c.873+1284_87… NM_001076.4:c.873+1284_873+1287del	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	(T)₁₂=	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄	dup(T)₅	dup(T)₆	dup(T)₇	dup(T)₈	dup(T)₉
GRCh38.p14 chr 4	NC_000004.12:g.68666753_68666764=	NC_000004.12:g.68666761_68666764del	NC_000004.12:g.68666762_68666764del	NC_000004.12:g.68666763_68666764del	NC_000004.12:g.68666764del	NC_000004.12:g.68666764dup	NC_000004.12:g.68666763_68666764dup	NC_000004.12:g.68666762_68666764dup	NC_000004.12:g.68666761_68666764dup	NC_000004.12:g.68666760_68666764dup	NC_000004.12:g.68666759_68666764dup	NC_000004.12:g.68666758_68666764dup	NC_000004.12:g.68666757_68666764dup	NC_000004.12:g.68666756_68666764dup
GRCh37.p13 chr 4	NC_000004.11:g.69532471_69532482=	NC_000004.11:g.69532479_69532482del	NC_000004.11:g.69532480_69532482del	NC_000004.11:g.69532481_69532482del	NC_000004.11:g.69532482del	NC_000004.11:g.69532482dup	NC_000004.11:g.69532481_69532482dup	NC_000004.11:g.69532480_69532482dup	NC_000004.11:g.69532479_69532482dup	NC_000004.11:g.69532478_69532482dup	NC_000004.11:g.69532477_69532482dup	NC_000004.11:g.69532476_69532482dup	NC_000004.11:g.69532475_69532482dup	NC_000004.11:g.69532474_69532482dup
UGT2B15 RefSeqGene	NG_052676.1:g.9013_9024=	NG_052676.1:g.9021_9024del	NG_052676.1:g.9022_9024del	NG_052676.1:g.9023_9024del	NG_052676.1:g.9024del	NG_052676.1:g.9024dup	NG_052676.1:g.9023_9024dup	NG_052676.1:g.9022_9024dup	NG_052676.1:g.9021_9024dup	NG_052676.1:g.9020_9024dup	NG_052676.1:g.9019_9024dup	NG_052676.1:g.9018_9024dup	NG_052676.1:g.9017_9024dup	NG_052676.1:g.9016_9024dup
GRCh38.p14 chr 4 alt locus HSCHR4_1_CTG9	NT_167250.2:g.243107_243120=	NT_167250.2:g.243117_243120del	NT_167250.2:g.243118_243120del	NT_167250.2:g.243119_243120del	NT_167250.2:g.243120del	NT_167250.2:g.243120dup	NT_167250.2:g.243119_243120dup	NT_167250.2:g.243118_243120dup	NT_167250.2:g.243117_243120dup	NT_167250.2:g.243116_243120dup	NT_167250.2:g.243115_243120dup	NT_167250.2:g.243114_243120dup	NT_167250.2:g.243113_243120dup	NT_167250.2:g.243112_243120dup
GRCh37.p13 chr 4 alt locus HSCHR4_1_CTG9	NT_167250.1:g.245057_245070=	NT_167250.1:g.245067_245070del	NT_167250.1:g.245068_245070del	NT_167250.1:g.245069_245070del	NT_167250.1:g.245070del	NT_167250.1:g.245070dup	NT_167250.1:g.245069_245070dup	NT_167250.1:g.245068_245070dup	NT_167250.1:g.245067_245070dup	NT_167250.1:g.245066_245070dup	NT_167250.1:g.245065_245070dup	NT_167250.1:g.245064_245070dup	NT_167250.1:g.245063_245070dup	NT_167250.1:g.245062_245070dup
UGT2B15 transcript	NM_001076.3:c.873+1287=	NM_001076.3:c.873+1284_873+1287del	NM_001076.3:c.873+1285_873+1287del	NM_001076.3:c.873+1286_873+1287del	NM_001076.3:c.873+1287del	NM_001076.3:c.873+1287dup	NM_001076.3:c.873+1286_873+1287dup	NM_001076.3:c.873+1285_873+1287dup	NM_001076.3:c.873+1284_873+1287dup	NM_001076.3:c.873+1283_873+1287dup	NM_001076.3:c.873+1282_873+1287dup	NM_001076.3:c.873+1281_873+1287dup	NM_001076.3:c.873+1280_873+1287dup	NM_001076.3:c.873+1279_873+1287dup
UGT2B15 transcript	NM_001076.4:c.873+1287=	NM_001076.4:c.873+1284_873+1287del	NM_001076.4:c.873+1285_873+1287del	NM_001076.4:c.873+1286_873+1287del	NM_001076.4:c.873+1287del	NM_001076.4:c.873+1287dup	NM_001076.4:c.873+1286_873+1287dup	NM_001076.4:c.873+1285_873+1287dup	NM_001076.4:c.873+1284_873+1287dup	NM_001076.4:c.873+1283_873+1287dup	NM_001076.4:c.873+1282_873+1287dup	NM_001076.4:c.873+1281_873+1287dup	NM_001076.4:c.873+1280_873+1287dup	NM_001076.4:c.873+1279_873+1287dup

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#.

41 SubSNP, 28 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SSMP	ss663525440	Apr 01, 2015 (144)
2	SWEGEN	ss2994855052	Nov 08, 2017 (151)
3	SWEGEN	ss2994855054	Nov 08, 2017 (151)
4	SWEGEN	ss2994855055	Nov 08, 2017 (151)
5	SWEGEN	ss2994855056	Nov 08, 2017 (151)
6	SWEGEN	ss2994855057	Nov 08, 2017 (151)
7	MCHAISSO	ss3065954527	Nov 08, 2017 (151)
8	EVA_DECODE	ss3712235349	Jul 13, 2019 (153)
9	EVA_DECODE	ss3712235350	Jul 13, 2019 (153)
10	EVA_DECODE	ss3712235351	Jul 13, 2019 (153)
11	EVA_DECODE	ss3712235352	Jul 13, 2019 (153)
12	ACPOP	ss3731233953	Jul 13, 2019 (153)
13	ACPOP	ss3731233954	Jul 13, 2019 (153)
14	ACPOP	ss3731233955	Jul 13, 2019 (153)
15	KOGIC	ss3954354814	Apr 26, 2020 (154)
16	KOGIC	ss3954354815	Apr 26, 2020 (154)
17	KOGIC	ss3954354816	Apr 26, 2020 (154)
18	GNOMAD	ss4112933275	Apr 26, 2021 (155)
19	GNOMAD	ss4112933294	Apr 26, 2021 (155)
20	GNOMAD	ss4112933295	Apr 26, 2021 (155)
21	GNOMAD	ss4112933296	Apr 26, 2021 (155)
22	GNOMAD	ss4112933297	Apr 26, 2021 (155)
23	GNOMAD	ss4112933298	Apr 26, 2021 (155)
24	GNOMAD	ss4112933299	Apr 26, 2021 (155)
25	GNOMAD	ss4112933300	Apr 26, 2021 (155)
26	GNOMAD	ss4112933301	Apr 26, 2021 (155)
27	GNOMAD	ss4112933302	Apr 26, 2021 (155)
28	GNOMAD	ss4112933303	Apr 26, 2021 (155)
29	TOMMO_GENOMICS	ss5166132082	Apr 26, 2021 (155)
30	TOMMO_GENOMICS	ss5166132083	Apr 26, 2021 (155)
31	TOMMO_GENOMICS	ss5166132084	Apr 26, 2021 (155)
32	TOMMO_GENOMICS	ss5166132085	Apr 26, 2021 (155)
33	TOMMO_GENOMICS	ss5166132086	Apr 26, 2021 (155)
34	TOMMO_GENOMICS	ss5700591543	Oct 13, 2022 (156)
35	TOMMO_GENOMICS	ss5700591544	Oct 13, 2022 (156)
36	TOMMO_GENOMICS	ss5700591545	Oct 13, 2022 (156)
37	TOMMO_GENOMICS	ss5700591546	Oct 13, 2022 (156)
38	TOMMO_GENOMICS	ss5700591547	Oct 13, 2022 (156)
39	EVA	ss5844126581	Oct 13, 2022 (156)
40	EVA	ss5844126582	Oct 13, 2022 (156)
41	EVA	ss5854264470	Oct 13, 2022 (156)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 152522323 (NC_000004.12:68666752::T 11782/117148) Row 152522342 (NC_000004.12:68666752::TT 148/117300) Row 152522343 (NC_000004.12:68666752::TTT 1353/117278)...	-	Apr 26, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 152522323 (NC_000004.12:68666752::T 11782/117148) Row 152522342 (NC_000004.12:68666752::TT 148/117300) Row 152522343 (NC_000004.12:68666752::TTT 1353/117278)...	-	Apr 26, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 152522323 (NC_000004.12:68666752::T 11782/117148) Row 152522342 (NC_000004.12:68666752::TT 148/117300) Row 152522343 (NC_000004.12:68666752::TTT 1353/117278)...	-	Apr 26, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 152522323 (NC_000004.12:68666752::T 11782/117148) Row 152522342 (NC_000004.12:68666752::TT 148/117300) Row 152522343 (NC_000004.12:68666752::TTT 1353/117278)...	-	Apr 26, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 152522323 (NC_000004.12:68666752::T 11782/117148) Row 152522342 (NC_000004.12:68666752::TT 148/117300) Row 152522343 (NC_000004.12:68666752::TTT 1353/117278)...	-	Apr 26, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 152522323 (NC_000004.12:68666752::T 11782/117148) Row 152522342 (NC_000004.12:68666752::TT 148/117300) Row 152522343 (NC_000004.12:68666752::TTT 1353/117278)...	-	Apr 26, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 152522323 (NC_000004.12:68666752::T 11782/117148) Row 152522342 (NC_000004.12:68666752::TT 148/117300) Row 152522343 (NC_000004.12:68666752::TTT 1353/117278)...	-	Apr 26, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 152522323 (NC_000004.12:68666752::T 11782/117148) Row 152522342 (NC_000004.12:68666752::TT 148/117300) Row 152522343 (NC_000004.12:68666752::TTT 1353/117278)...	-	Apr 26, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 152522323 (NC_000004.12:68666752::T 11782/117148) Row 152522342 (NC_000004.12:68666752::TT 148/117300) Row 152522343 (NC_000004.12:68666752::TTT 1353/117278)...	-	Apr 26, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 152522323 (NC_000004.12:68666752::T 11782/117148) Row 152522342 (NC_000004.12:68666752::TT 148/117300) Row 152522343 (NC_000004.12:68666752::TTT 1353/117278)...	-	Apr 26, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 152522323 (NC_000004.12:68666752::T 11782/117148) Row 152522342 (NC_000004.12:68666752::TT 148/117300) Row 152522343 (NC_000004.12:68666752::TTT 1353/117278)...	-	Apr 26, 2021 (155)
53	Korean Genome Project Submission ignored due to conflicting rows: Row 10732815 (NC_000004.12:68666752:T: 30/1356) Row 10732816 (NC_000004.12:68666753::T 32/1356) Row 10732817 (NC_000004.12:68666753::TTTT 5/1356)	-	Apr 26, 2020 (154)
54	Korean Genome Project Submission ignored due to conflicting rows: Row 10732815 (NC_000004.12:68666752:T: 30/1356) Row 10732816 (NC_000004.12:68666753::T 32/1356) Row 10732817 (NC_000004.12:68666753::TTTT 5/1356)	-	Apr 26, 2020 (154)
55	Korean Genome Project Submission ignored due to conflicting rows: Row 10732815 (NC_000004.12:68666752:T: 30/1356) Row 10732816 (NC_000004.12:68666753::T 32/1356) Row 10732817 (NC_000004.12:68666753::TTTT 5/1356)	-	Apr 26, 2020 (154)
56	Northern Sweden Submission ignored due to conflicting rows: Row 4518818 (NC_000004.11:69532470::T 117/596) Row 4518819 (NC_000004.11:69532470::TTTTT 12/596) Row 4518820 (NC_000004.11:69532470::TTT 12/596)	-	Jul 13, 2019 (153)
57	Northern Sweden Submission ignored due to conflicting rows: Row 4518818 (NC_000004.11:69532470::T 117/596) Row 4518819 (NC_000004.11:69532470::TTTTT 12/596) Row 4518820 (NC_000004.11:69532470::TTT 12/596)	-	Jul 13, 2019 (153)
58	Northern Sweden Submission ignored due to conflicting rows: Row 4518818 (NC_000004.11:69532470::T 117/596) Row 4518819 (NC_000004.11:69532470::TTTTT 12/596) Row 4518820 (NC_000004.11:69532470::TTT 12/596)	-	Jul 13, 2019 (153)
59	8.3KJPN Submission ignored due to conflicting rows: Row 24101389 (NC_000004.11:69532470::TTTTT 77/16224) Row 24101390 (NC_000004.11:69532470:T: 14/16224) Row 24101391 (NC_000004.11:69532470::T 275/16224)...	-	Apr 26, 2021 (155)
60	8.3KJPN Submission ignored due to conflicting rows: Row 24101389 (NC_000004.11:69532470::TTTTT 77/16224) Row 24101390 (NC_000004.11:69532470:T: 14/16224) Row 24101391 (NC_000004.11:69532470::T 275/16224)...	-	Apr 26, 2021 (155)
61	8.3KJPN Submission ignored due to conflicting rows: Row 24101389 (NC_000004.11:69532470::TTTTT 77/16224) Row 24101390 (NC_000004.11:69532470:T: 14/16224) Row 24101391 (NC_000004.11:69532470::T 275/16224)...	-	Apr 26, 2021 (155)
62	8.3KJPN Submission ignored due to conflicting rows: Row 24101389 (NC_000004.11:69532470::TTTTT 77/16224) Row 24101390 (NC_000004.11:69532470:T: 14/16224) Row 24101391 (NC_000004.11:69532470::T 275/16224)...	-	Apr 26, 2021 (155)
63	8.3KJPN Submission ignored due to conflicting rows: Row 24101389 (NC_000004.11:69532470::TTTTT 77/16224) Row 24101390 (NC_000004.11:69532470:T: 14/16224) Row 24101391 (NC_000004.11:69532470::T 275/16224)...	-	Apr 26, 2021 (155)
64	14KJPN Submission ignored due to conflicting rows: Row 34428647 (NC_000004.12:68666752:T: 30/27884) Row 34428648 (NC_000004.12:68666752::T 495/27884) Row 34428649 (NC_000004.12:68666752::TTTTT 128/27884)...	-	Oct 13, 2022 (156)
65	14KJPN Submission ignored due to conflicting rows: Row 34428647 (NC_000004.12:68666752:T: 30/27884) Row 34428648 (NC_000004.12:68666752::T 495/27884) Row 34428649 (NC_000004.12:68666752::TTTTT 128/27884)...	-	Oct 13, 2022 (156)
66	14KJPN Submission ignored due to conflicting rows: Row 34428647 (NC_000004.12:68666752:T: 30/27884) Row 34428648 (NC_000004.12:68666752::T 495/27884) Row 34428649 (NC_000004.12:68666752::TTTTT 128/27884)...	-	Oct 13, 2022 (156)
67	14KJPN Submission ignored due to conflicting rows: Row 34428647 (NC_000004.12:68666752:T: 30/27884) Row 34428648 (NC_000004.12:68666752::T 495/27884) Row 34428649 (NC_000004.12:68666752::TTTTT 128/27884)...	-	Oct 13, 2022 (156)
68	14KJPN Submission ignored due to conflicting rows: Row 34428647 (NC_000004.12:68666752:T: 30/27884) Row 34428648 (NC_000004.12:68666752::T 495/27884) Row 34428649 (NC_000004.12:68666752::TTTTT 128/27884)...	-	Oct 13, 2022 (156)
69	ALFA	NC_000004.12 - 68666753	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
ss5844126582	NC_000004.11:69532470:TTTT:	NC_000004.12:68666752:TTTTTTTTTTTT… NC_000004.12:68666752:TTTTTTTTTTTT:TTTTTTTT
599080243	NC_000004.12:68666752:TTTTTTTTTTTT… NC_000004.12:68666752:TTTTTTTTTTTT:TTTTTTTT	NC_000004.12:68666752:TTTTTTTTTTTT… NC_000004.12:68666752:TTTTTTTTTTTT:TTTTTTTT	(self)
599080243	NC_000004.12:68666752:TTTTTTTTTTTT… NC_000004.12:68666752:TTTTTTTTTTTT:TTTTTTTTT	NC_000004.12:68666752:TTTTTTTTTTTT… NC_000004.12:68666752:TTTTTTTTTTTT:TTTTTTTTT	(self)
ss4112933303	NC_000004.12:68666752:TT:	NC_000004.12:68666752:TTTTTTTTTTTT… NC_000004.12:68666752:TTTTTTTTTTTT:TTTTTTTTTT	(self)
599080243	NC_000004.12:68666752:TTTTTTTTTTTT… NC_000004.12:68666752:TTTTTTTTTTTT:TTTTTTTTTT	NC_000004.12:68666752:TTTTTTTTTTTT… NC_000004.12:68666752:TTTTTTTTTTTT:TTTTTTTTTT	(self)
ss5166132083	NC_000004.11:69532470:T:	NC_000004.12:68666752:TTTTTTTTTTTT… NC_000004.12:68666752:TTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss3065954527, ss3954354814, ss4112933302, ss5700591543	NC_000004.12:68666752:T:	NC_000004.12:68666752:TTTTTTTTTTTT… NC_000004.12:68666752:TTTTTTTTTTTT:TTTTTTTTTTT	(self)
599080243	NC_000004.12:68666752:TTTTTTTTTTTT… NC_000004.12:68666752:TTTTTTTTTTTT:TTTTTTTTTTT	NC_000004.12:68666752:TTTTTTTTTTTT… NC_000004.12:68666752:TTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss2994855052, ss3731233953, ss5166132084	NC_000004.11:69532470::T	NC_000004.12:68666752:TTTTTTTTTTTT… NC_000004.12:68666752:TTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss4112933275, ss5700591544, ss5854264470	NC_000004.12:68666752::T	NC_000004.12:68666752:TTTTTTTTTTTT… NC_000004.12:68666752:TTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
599080243	NC_000004.12:68666752:TTTTTTTTTTTT… NC_000004.12:68666752:TTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000004.12:68666752:TTTTTTTTTTTT… NC_000004.12:68666752:TTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss3954354815	NC_000004.12:68666753::T	NC_000004.12:68666752:TTTTTTTTTTTT… NC_000004.12:68666752:TTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss4112933294	NC_000004.12:68666752::TT	NC_000004.12:68666752:TTTTTTTTTTTT… NC_000004.12:68666752:TTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
599080243	NC_000004.12:68666752:TTTTTTTTTTTT… NC_000004.12:68666752:TTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000004.12:68666752:TTTTTTTTTTTT… NC_000004.12:68666752:TTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss2994855057, ss3731233955, ss5166132086	NC_000004.11:69532470::TTT	NC_000004.12:68666752:TTTTTTTTTTTT… NC_000004.12:68666752:TTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss4112933295, ss5700591546	NC_000004.12:68666752::TTT	NC_000004.12:68666752:TTTTTTTTTTTT… NC_000004.12:68666752:TTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
599080243	NC_000004.12:68666752:TTTTTTTTTTTT… NC_000004.12:68666752:TTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000004.12:68666752:TTTTTTTTTTTT… NC_000004.12:68666752:TTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss5166132085	NC_000004.11:69532470::TTTT	NC_000004.12:68666752:TTTTTTTTTTTT… NC_000004.12:68666752:TTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3712235349, ss4112933296, ss5700591547	NC_000004.12:68666752::TTTT	NC_000004.12:68666752:TTTTTTTTTTTT… NC_000004.12:68666752:TTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
599080243	NC_000004.12:68666752:TTTTTTTTTTTT… NC_000004.12:68666752:TTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000004.12:68666752:TTTTTTTTTTTT… NC_000004.12:68666752:TTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3954354816	NC_000004.12:68666753::TTTT	NC_000004.12:68666752:TTTTTTTTTTTT… NC_000004.12:68666752:TTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss663525440, ss2994855054, ss3731233954, ss5166132082	NC_000004.11:69532470::TTTTT	NC_000004.12:68666752:TTTTTTTTTTTT… NC_000004.12:68666752:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss3712235350, ss4112933297, ss5700591545	NC_000004.12:68666752::TTTTT	NC_000004.12:68666752:TTTTTTTTTTTT… NC_000004.12:68666752:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
599080243	NC_000004.12:68666752:TTTTTTTTTTTT… NC_000004.12:68666752:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000004.12:68666752:TTTTTTTTTTTT… NC_000004.12:68666752:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss2994855056	NC_000004.11:69532470::TTTTTT	NC_000004.12:68666752:TTTTTTTTTTTT… NC_000004.12:68666752:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3712235351, ss4112933298	NC_000004.12:68666752::TTTTTT	NC_000004.12:68666752:TTTTTTTTTTTT… NC_000004.12:68666752:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
599080243	NC_000004.12:68666752:TTTTTTTTTTTT… NC_000004.12:68666752:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000004.12:68666752:TTTTTTTTTTTT… NC_000004.12:68666752:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss2994855055, ss5844126581	NC_000004.11:69532470::TTTTTTT	NC_000004.12:68666752:TTTTTTTTTTTT… NC_000004.12:68666752:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss3712235352, ss4112933299	NC_000004.12:68666752::TTTTTTT	NC_000004.12:68666752:TTTTTTTTTTTT… NC_000004.12:68666752:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
599080243	NC_000004.12:68666752:TTTTTTTTTTTT… NC_000004.12:68666752:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000004.12:68666752:TTTTTTTTTTTT… NC_000004.12:68666752:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss4112933300	NC_000004.12:68666752::TTTTTTTT	NC_000004.12:68666752:TTTTTTTTTTTT… NC_000004.12:68666752:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
599080243	NC_000004.12:68666752:TTTTTTTTTTTT… NC_000004.12:68666752:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000004.12:68666752:TTTTTTTTTTTT… NC_000004.12:68666752:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss4112933301	NC_000004.12:68666752::TTTTTTTTT	NC_000004.12:68666752:TTTTTTTTTTTT… NC_000004.12:68666752:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3431562816	NC_000004.12:68666752:TTT:	NC_000004.12:68666752:TTTTTTTTTTTT… NC_000004.12:68666752:TTTTTTTTTTTT:TTTTTTTTT
ss3431562817	NC_000004.12:68666752:TTTT:	NC_000004.12:68666752:TTTTTTTTTTTT… NC_000004.12:68666752:TTTTTTTTTTTT:TTTTTTTT

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

No publications for rs775748401

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

rs775748401