Name: rs748691333
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.

rs748691333

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr3:133473439-133473459 (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(A)₁₁ / del(A)₁₀ / del(A)₉ / de…
del(A)₁₁ / del(A)₁₀ / del(A)₉ / del(A)₈ / del(A)₇ / del(A)₆ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄ / dup(A)₅ / dup(A)₆ / dup(A)₇ / dup(A)₈
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₁₁=0.0000 (0/1370, ALFA)
del(A)₁₀=0.0000 (0/1370, ALFA)
del(A)₉=0.0000 (0/1370, ALFA) (+ 13 more)
del(A)₈=0.0000 (0/1370, ALFA)
del(A)₇=0.0000 (0/1370, ALFA)
del(A)₆=0.0000 (0/1370, ALFA)
del(A)₅=0.0000 (0/1370, ALFA)
del(A)₄=0.0000 (0/1370, ALFA)
delAAA=0.0000 (0/1370, ALFA)
delAA=0.0000 (0/1370, ALFA)
delA=0.0000 (0/1370, ALFA)
dupA=0.0000 (0/1370, ALFA)
dupAA=0.0000 (0/1370, ALFA)
dupAAA=0.0000 (0/1370, ALFA)
dup(A)₄=0.0000 (0/1370, ALFA)
dup(A)₆=0.0000 (0/1370, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: BFSP2-AS1 : Intron Variant
BFSP2 : 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	1370	AAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
European	Sub	862	AAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
African	Sub	332	AAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
African Others	Sub	10	AAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	N/A
African American	Sub	322	AAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
Asian	Sub	6	AAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	N/A
East Asian	Sub	4	AAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	N/A
Other Asian	Sub	2	AAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	N/A
Latin American 1	Sub	10	AAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	N/A
Latin American 2	Sub	88	AAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
South Asian	Sub	4	AAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	N/A
Other	Sub	68	AAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	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	1370	(A)₂₁=1.0000	del(A)₁₁=0.0000, del(A)₁₀=0.0000, del(A)₉=0.0000, del(A)₈=0.0000, del(A)₇=0.0000, del(A)₆=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)₄=0.0000, dup(A)₆=0.0000
Allele Frequency Aggregator	European	Sub	862	(A)₂₁=1.000	del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000, dup(A)₆=0.000
Allele Frequency Aggregator	African	Sub	332	(A)₂₁=1.000	del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000, dup(A)₆=0.000
Allele Frequency Aggregator	Latin American 2	Sub	88	(A)₂₁=1.00	del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₆=0.00
Allele Frequency Aggregator	Other	Sub	68	(A)₂₁=1.00	del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₆=0.00
Allele Frequency Aggregator	Latin American 1	Sub	10	(A)₂₁=1.0	del(A)₁₁=0.0, del(A)₁₀=0.0, del(A)₉=0.0, del(A)₈=0.0, del(A)₇=0.0, del(A)₆=0.0, del(A)₅=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)₄=0.0, dup(A)₆=0.0
Allele Frequency Aggregator	Asian	Sub	6	(A)₂₁=1.0	del(A)₁₁=0.0, del(A)₁₀=0.0, del(A)₉=0.0, del(A)₈=0.0, del(A)₇=0.0, del(A)₆=0.0, del(A)₅=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)₄=0.0, dup(A)₆=0.0
Allele Frequency Aggregator	South Asian	Sub	4	(A)₂₁=1.0	del(A)₁₁=0.0, del(A)₁₀=0.0, del(A)₉=0.0, del(A)₈=0.0, del(A)₇=0.0, del(A)₆=0.0, del(A)₅=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)₄=0.0, dup(A)₆=0.0

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 3	NC_000003.12:g.133473449_133473459del
GRCh38.p14 chr 3	NC_000003.12:g.133473450_133473459del
GRCh38.p14 chr 3	NC_000003.12:g.133473451_133473459del
GRCh38.p14 chr 3	NC_000003.12:g.133473452_133473459del
GRCh38.p14 chr 3	NC_000003.12:g.133473453_133473459del
GRCh38.p14 chr 3	NC_000003.12:g.133473454_133473459del
GRCh38.p14 chr 3	NC_000003.12:g.133473455_133473459del
GRCh38.p14 chr 3	NC_000003.12:g.133473456_133473459del
GRCh38.p14 chr 3	NC_000003.12:g.133473457_133473459del
GRCh38.p14 chr 3	NC_000003.12:g.133473458_133473459del
GRCh38.p14 chr 3	NC_000003.12:g.133473459del
GRCh38.p14 chr 3	NC_000003.12:g.133473459dup
GRCh38.p14 chr 3	NC_000003.12:g.133473458_133473459dup
GRCh38.p14 chr 3	NC_000003.12:g.133473457_133473459dup
GRCh38.p14 chr 3	NC_000003.12:g.133473456_133473459dup
GRCh38.p14 chr 3	NC_000003.12:g.133473455_133473459dup
GRCh38.p14 chr 3	NC_000003.12:g.133473454_133473459dup
GRCh38.p14 chr 3	NC_000003.12:g.133473453_133473459dup
GRCh38.p14 chr 3	NC_000003.12:g.133473452_133473459dup
GRCh37.p13 chr 3	NC_000003.11:g.133192293_133192303del
GRCh37.p13 chr 3	NC_000003.11:g.133192294_133192303del
GRCh37.p13 chr 3	NC_000003.11:g.133192295_133192303del
GRCh37.p13 chr 3	NC_000003.11:g.133192296_133192303del
GRCh37.p13 chr 3	NC_000003.11:g.133192297_133192303del
GRCh37.p13 chr 3	NC_000003.11:g.133192298_133192303del
GRCh37.p13 chr 3	NC_000003.11:g.133192299_133192303del
GRCh37.p13 chr 3	NC_000003.11:g.133192300_133192303del
GRCh37.p13 chr 3	NC_000003.11:g.133192301_133192303del
GRCh37.p13 chr 3	NC_000003.11:g.133192302_133192303del
GRCh37.p13 chr 3	NC_000003.11:g.133192303del
GRCh37.p13 chr 3	NC_000003.11:g.133192303dup
GRCh37.p13 chr 3	NC_000003.11:g.133192302_133192303dup
GRCh37.p13 chr 3	NC_000003.11:g.133192301_133192303dup
GRCh37.p13 chr 3	NC_000003.11:g.133192300_133192303dup
GRCh37.p13 chr 3	NC_000003.11:g.133192299_133192303dup
GRCh37.p13 chr 3	NC_000003.11:g.133192298_133192303dup
GRCh37.p13 chr 3	NC_000003.11:g.133192297_133192303dup
GRCh37.p13 chr 3	NC_000003.11:g.133192296_133192303dup
BFSP2 RefSeqGene	NG_012425.1:g.78504_78514del
BFSP2 RefSeqGene	NG_012425.1:g.78505_78514del
BFSP2 RefSeqGene	NG_012425.1:g.78506_78514del
BFSP2 RefSeqGene	NG_012425.1:g.78507_78514del
BFSP2 RefSeqGene	NG_012425.1:g.78508_78514del
BFSP2 RefSeqGene	NG_012425.1:g.78509_78514del
BFSP2 RefSeqGene	NG_012425.1:g.78510_78514del
BFSP2 RefSeqGene	NG_012425.1:g.78511_78514del
BFSP2 RefSeqGene	NG_012425.1:g.78512_78514del
BFSP2 RefSeqGene	NG_012425.1:g.78513_78514del
BFSP2 RefSeqGene	NG_012425.1:g.78514del
BFSP2 RefSeqGene	NG_012425.1:g.78514dup
BFSP2 RefSeqGene	NG_012425.1:g.78513_78514dup
BFSP2 RefSeqGene	NG_012425.1:g.78512_78514dup
BFSP2 RefSeqGene	NG_012425.1:g.78511_78514dup
BFSP2 RefSeqGene	NG_012425.1:g.78510_78514dup
BFSP2 RefSeqGene	NG_012425.1:g.78509_78514dup
BFSP2 RefSeqGene	NG_012425.1:g.78508_78514dup
BFSP2 RefSeqGene	NG_012425.1:g.78507_78514dup

Gene: BFSP2, beaded filament structural protein 2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
BFSP2 transcript	NM_003571.4:c.1244+884_12… NM_003571.4:c.1244+884_1244+894del	N/A	Intron Variant
BFSP2 transcript variant X1	XM_017007315.2:c.	N/A	Genic Downstream Transcript Variant

Gene: BFSP2-AS1, BFSP2 antisense RNA 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
BFSP2-AS1 transcript variant 1	NR_135276.1:n.	N/A	Intron Variant
BFSP2-AS1 transcript variant 2	NR_135277.1:n.	N/A	Intron Variant
BFSP2-AS1 transcript variant 3	NR_135278.1:n.	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	(A)₂₁=	del(A)₁₁	del(A)₁₀	del(A)₉	del(A)₈	del(A)₇	del(A)₆	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₅	dup(A)₆	dup(A)₇	dup(A)₈
GRCh38.p14 chr 3	NC_000003.12:g.133473439_133473459=	NC_000003.12:g.133473449_133473459del	NC_000003.12:g.133473450_133473459del	NC_000003.12:g.133473451_133473459del	NC_000003.12:g.133473452_133473459del	NC_000003.12:g.133473453_133473459del	NC_000003.12:g.133473454_133473459del	NC_000003.12:g.133473455_133473459del	NC_000003.12:g.133473456_133473459del	NC_000003.12:g.133473457_133473459del	NC_000003.12:g.133473458_133473459del	NC_000003.12:g.133473459del	NC_000003.12:g.133473459dup	NC_000003.12:g.133473458_133473459dup	NC_000003.12:g.133473457_133473459dup	NC_000003.12:g.133473456_133473459dup	NC_000003.12:g.133473455_133473459dup	NC_000003.12:g.133473454_133473459dup	NC_000003.12:g.133473453_133473459dup	NC_000003.12:g.133473452_133473459dup
GRCh37.p13 chr 3	NC_000003.11:g.133192283_133192303=	NC_000003.11:g.133192293_133192303del	NC_000003.11:g.133192294_133192303del	NC_000003.11:g.133192295_133192303del	NC_000003.11:g.133192296_133192303del	NC_000003.11:g.133192297_133192303del	NC_000003.11:g.133192298_133192303del	NC_000003.11:g.133192299_133192303del	NC_000003.11:g.133192300_133192303del	NC_000003.11:g.133192301_133192303del	NC_000003.11:g.133192302_133192303del	NC_000003.11:g.133192303del	NC_000003.11:g.133192303dup	NC_000003.11:g.133192302_133192303dup	NC_000003.11:g.133192301_133192303dup	NC_000003.11:g.133192300_133192303dup	NC_000003.11:g.133192299_133192303dup	NC_000003.11:g.133192298_133192303dup	NC_000003.11:g.133192297_133192303dup	NC_000003.11:g.133192296_133192303dup
BFSP2 RefSeqGene	NG_012425.1:g.78494_78514=	NG_012425.1:g.78504_78514del	NG_012425.1:g.78505_78514del	NG_012425.1:g.78506_78514del	NG_012425.1:g.78507_78514del	NG_012425.1:g.78508_78514del	NG_012425.1:g.78509_78514del	NG_012425.1:g.78510_78514del	NG_012425.1:g.78511_78514del	NG_012425.1:g.78512_78514del	NG_012425.1:g.78513_78514del	NG_012425.1:g.78514del	NG_012425.1:g.78514dup	NG_012425.1:g.78513_78514dup	NG_012425.1:g.78512_78514dup	NG_012425.1:g.78511_78514dup	NG_012425.1:g.78510_78514dup	NG_012425.1:g.78509_78514dup	NG_012425.1:g.78508_78514dup	NG_012425.1:g.78507_78514dup
BFSP2 transcript	NM_003571.2:c.1244+874=	NM_003571.2:c.1244+884_1244+894del	NM_003571.2:c.1244+885_1244+894del	NM_003571.2:c.1244+886_1244+894del	NM_003571.2:c.1244+887_1244+894del	NM_003571.2:c.1244+888_1244+894del	NM_003571.2:c.1244+889_1244+894del	NM_003571.2:c.1244+890_1244+894del	NM_003571.2:c.1244+891_1244+894del	NM_003571.2:c.1244+892_1244+894del	NM_003571.2:c.1244+893_1244+894del	NM_003571.2:c.1244+894del	NM_003571.2:c.1244+894dup	NM_003571.2:c.1244+893_1244+894dup	NM_003571.2:c.1244+892_1244+894dup	NM_003571.2:c.1244+891_1244+894dup	NM_003571.2:c.1244+890_1244+894dup	NM_003571.2:c.1244+889_1244+894dup	NM_003571.2:c.1244+888_1244+894dup	NM_003571.2:c.1244+887_1244+894dup
BFSP2 transcript	NM_003571.4:c.1244+874=	NM_003571.4:c.1244+884_1244+894del	NM_003571.4:c.1244+885_1244+894del	NM_003571.4:c.1244+886_1244+894del	NM_003571.4:c.1244+887_1244+894del	NM_003571.4:c.1244+888_1244+894del	NM_003571.4:c.1244+889_1244+894del	NM_003571.4:c.1244+890_1244+894del	NM_003571.4:c.1244+891_1244+894del	NM_003571.4:c.1244+892_1244+894del	NM_003571.4:c.1244+893_1244+894del	NM_003571.4:c.1244+894del	NM_003571.4:c.1244+894dup	NM_003571.4:c.1244+893_1244+894dup	NM_003571.4:c.1244+892_1244+894dup	NM_003571.4:c.1244+891_1244+894dup	NM_003571.4:c.1244+890_1244+894dup	NM_003571.4:c.1244+889_1244+894dup	NM_003571.4:c.1244+888_1244+894dup	NM_003571.4:c.1244+887_1244+894dup

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#.

64 SubSNP, 39 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss42060320	Oct 12, 2018 (152)
2	HGSV	ss81868216	Oct 12, 2018 (152)
3	HGSV	ss81869568	Oct 12, 2018 (152)
4	HUMANGENOME_JCVI	ss95332134	Oct 12, 2018 (152)
5	PJP	ss295126488	Oct 12, 2018 (152)
6	EVA_UK10K_ALSPAC	ss1703831015	Apr 01, 2015 (144)
7	EVA_UK10K_ALSPAC	ss1703831017	Apr 01, 2015 (144)
8	EVA_UK10K_TWINSUK	ss1703831106	Apr 01, 2015 (144)
9	EVA_UK10K_TWINSUK	ss1703831108	Apr 01, 2015 (144)
10	EVA_DECODE	ss3710324102	Jul 13, 2019 (153)
11	EVA_DECODE	ss3710324103	Jul 13, 2019 (153)
12	EVA_DECODE	ss3710324104	Jul 13, 2019 (153)
13	EVA_DECODE	ss3710324105	Jul 13, 2019 (153)
14	EVA_DECODE	ss3710324106	Jul 13, 2019 (153)
15	PACBIO	ss3789962649	Jul 13, 2019 (153)
16	PACBIO	ss3794837243	Jul 13, 2019 (153)
17	KOGIC	ss3952445040	Apr 25, 2020 (154)
18	KOGIC	ss3952445041	Apr 25, 2020 (154)
19	KOGIC	ss3952445042	Apr 25, 2020 (154)
20	KOGIC	ss3952445043	Apr 25, 2020 (154)
21	KOGIC	ss3952445044	Apr 25, 2020 (154)
22	KOGIC	ss3952445045	Apr 25, 2020 (154)
23	GNOMAD	ss4081081463	Apr 27, 2021 (155)
24	GNOMAD	ss4081081464	Apr 27, 2021 (155)
25	GNOMAD	ss4081081465	Apr 27, 2021 (155)
26	GNOMAD	ss4081081466	Apr 27, 2021 (155)
27	GNOMAD	ss4081081467	Apr 27, 2021 (155)
28	GNOMAD	ss4081081468	Apr 27, 2021 (155)
29	GNOMAD	ss4081081469	Apr 27, 2021 (155)
30	GNOMAD	ss4081081470	Apr 27, 2021 (155)
31	GNOMAD	ss4081081471	Apr 27, 2021 (155)
32	GNOMAD	ss4081081472	Apr 27, 2021 (155)
33	GNOMAD	ss4081081473	Apr 27, 2021 (155)
34	GNOMAD	ss4081081474	Apr 27, 2021 (155)
35	GNOMAD	ss4081081475	Apr 27, 2021 (155)
36	GNOMAD	ss4081081476	Apr 27, 2021 (155)
37	GNOMAD	ss4081081477	Apr 27, 2021 (155)
38	GNOMAD	ss4081081478	Apr 27, 2021 (155)
39	GNOMAD	ss4081081479	Apr 27, 2021 (155)
40	TOMMO_GENOMICS	ss5161662966	Apr 27, 2021 (155)
41	TOMMO_GENOMICS	ss5161662967	Apr 27, 2021 (155)
42	TOMMO_GENOMICS	ss5161662968	Apr 27, 2021 (155)
43	TOMMO_GENOMICS	ss5161662969	Apr 27, 2021 (155)
44	TOMMO_GENOMICS	ss5161662970	Apr 27, 2021 (155)
45	1000G_HIGH_COVERAGE	ss5256086198	Oct 12, 2022 (156)
46	1000G_HIGH_COVERAGE	ss5256086199	Oct 12, 2022 (156)
47	1000G_HIGH_COVERAGE	ss5256086200	Oct 12, 2022 (156)
48	1000G_HIGH_COVERAGE	ss5256086201	Oct 12, 2022 (156)
49	1000G_HIGH_COVERAGE	ss5256086202	Oct 12, 2022 (156)
50	1000G_HIGH_COVERAGE	ss5256086203	Oct 12, 2022 (156)
51	HUGCELL_USP	ss5455219903	Oct 12, 2022 (156)
52	HUGCELL_USP	ss5455219905	Oct 12, 2022 (156)
53	HUGCELL_USP	ss5455219906	Oct 12, 2022 (156)
54	HUGCELL_USP	ss5455219907	Oct 12, 2022 (156)
55	TOMMO_GENOMICS	ss5694564389	Oct 12, 2022 (156)
56	TOMMO_GENOMICS	ss5694564390	Oct 12, 2022 (156)
57	TOMMO_GENOMICS	ss5694564391	Oct 12, 2022 (156)
58	TOMMO_GENOMICS	ss5694564393	Oct 12, 2022 (156)
59	TOMMO_GENOMICS	ss5694564394	Oct 12, 2022 (156)
60	EVA	ss5826505616	Oct 12, 2022 (156)
61	EVA	ss5826505617	Oct 12, 2022 (156)
62	EVA	ss5826505618	Oct 12, 2022 (156)
63	EVA	ss5853845894	Oct 12, 2022 (156)
64	EVA	ss5871069064	Oct 12, 2022 (156)
65	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 9740819 (NC_000003.11:133192282::A 1236/3854) Row 9740820 (NC_000003.11:133192282::AA 1881/3854)	-	Oct 12, 2018 (152)
66	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 9740819 (NC_000003.11:133192282::A 1236/3854) Row 9740820 (NC_000003.11:133192282::AA 1881/3854)	-	Oct 12, 2018 (152)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 124275273 (NC_000003.12:133473438::A 39482/68562) Row 124275274 (NC_000003.12:133473438::AA 2477/67382) Row 124275275 (NC_000003.12:133473438::AAA 126/68444)...	-	Apr 27, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 124275273 (NC_000003.12:133473438::A 39482/68562) Row 124275274 (NC_000003.12:133473438::AA 2477/67382) Row 124275275 (NC_000003.12:133473438::AAA 126/68444)...	-	Apr 27, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 124275273 (NC_000003.12:133473438::A 39482/68562) Row 124275274 (NC_000003.12:133473438::AA 2477/67382) Row 124275275 (NC_000003.12:133473438::AAA 126/68444)...	-	Apr 27, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 124275273 (NC_000003.12:133473438::A 39482/68562) Row 124275274 (NC_000003.12:133473438::AA 2477/67382) Row 124275275 (NC_000003.12:133473438::AAA 126/68444)...	-	Apr 27, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 124275273 (NC_000003.12:133473438::A 39482/68562) Row 124275274 (NC_000003.12:133473438::AA 2477/67382) Row 124275275 (NC_000003.12:133473438::AAA 126/68444)...	-	Apr 27, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 124275273 (NC_000003.12:133473438::A 39482/68562) Row 124275274 (NC_000003.12:133473438::AA 2477/67382) Row 124275275 (NC_000003.12:133473438::AAA 126/68444)...	-	Apr 27, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 124275273 (NC_000003.12:133473438::A 39482/68562) Row 124275274 (NC_000003.12:133473438::AA 2477/67382) Row 124275275 (NC_000003.12:133473438::AAA 126/68444)...	-	Apr 27, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 124275273 (NC_000003.12:133473438::A 39482/68562) Row 124275274 (NC_000003.12:133473438::AA 2477/67382) Row 124275275 (NC_000003.12:133473438::AAA 126/68444)...	-	Apr 27, 2021 (155)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 124275273 (NC_000003.12:133473438::A 39482/68562) Row 124275274 (NC_000003.12:133473438::AA 2477/67382) Row 124275275 (NC_000003.12:133473438::AAA 126/68444)...	-	Apr 27, 2021 (155)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 124275273 (NC_000003.12:133473438::A 39482/68562) Row 124275274 (NC_000003.12:133473438::AA 2477/67382) Row 124275275 (NC_000003.12:133473438::AAA 126/68444)...	-	Apr 27, 2021 (155)
77	gnomAD - Genomes Submission ignored due to conflicting rows: Row 124275273 (NC_000003.12:133473438::A 39482/68562) Row 124275274 (NC_000003.12:133473438::AA 2477/67382) Row 124275275 (NC_000003.12:133473438::AAA 126/68444)...	-	Apr 27, 2021 (155)
78	gnomAD - Genomes Submission ignored due to conflicting rows: Row 124275273 (NC_000003.12:133473438::A 39482/68562) Row 124275274 (NC_000003.12:133473438::AA 2477/67382) Row 124275275 (NC_000003.12:133473438::AAA 126/68444)...	-	Apr 27, 2021 (155)
79	gnomAD - Genomes Submission ignored due to conflicting rows: Row 124275273 (NC_000003.12:133473438::A 39482/68562) Row 124275274 (NC_000003.12:133473438::AA 2477/67382) Row 124275275 (NC_000003.12:133473438::AAA 126/68444)...	-	Apr 27, 2021 (155)
80	gnomAD - Genomes Submission ignored due to conflicting rows: Row 124275273 (NC_000003.12:133473438::A 39482/68562) Row 124275274 (NC_000003.12:133473438::AA 2477/67382) Row 124275275 (NC_000003.12:133473438::AAA 126/68444)...	-	Apr 27, 2021 (155)
81	gnomAD - Genomes Submission ignored due to conflicting rows: Row 124275273 (NC_000003.12:133473438::A 39482/68562) Row 124275274 (NC_000003.12:133473438::AA 2477/67382) Row 124275275 (NC_000003.12:133473438::AAA 126/68444)...	-	Apr 27, 2021 (155)
82	gnomAD - Genomes Submission ignored due to conflicting rows: Row 124275273 (NC_000003.12:133473438::A 39482/68562) Row 124275274 (NC_000003.12:133473438::AA 2477/67382) Row 124275275 (NC_000003.12:133473438::AAA 126/68444)...	-	Apr 27, 2021 (155)
83	gnomAD - Genomes Submission ignored due to conflicting rows: Row 124275273 (NC_000003.12:133473438::A 39482/68562) Row 124275274 (NC_000003.12:133473438::AA 2477/67382) Row 124275275 (NC_000003.12:133473438::AAA 126/68444)...	-	Apr 27, 2021 (155)
84	gnomAD - Genomes Submission ignored due to conflicting rows: Row 124275273 (NC_000003.12:133473438::A 39482/68562) Row 124275274 (NC_000003.12:133473438::AA 2477/67382) Row 124275275 (NC_000003.12:133473438::AAA 126/68444)...	-	Apr 27, 2021 (155)
85	Korean Genome Project Submission ignored due to conflicting rows: Row 8823041 (NC_000003.12:133473440::A 703/1690) Row 8823042 (NC_000003.12:133473438:AA: 10/1690) Row 8823043 (NC_000003.12:133473439:A: 82/1690)...	-	Apr 25, 2020 (154)
86	Korean Genome Project Submission ignored due to conflicting rows: Row 8823041 (NC_000003.12:133473440::A 703/1690) Row 8823042 (NC_000003.12:133473438:AA: 10/1690) Row 8823043 (NC_000003.12:133473439:A: 82/1690)...	-	Apr 25, 2020 (154)
87	Korean Genome Project Submission ignored due to conflicting rows: Row 8823041 (NC_000003.12:133473440::A 703/1690) Row 8823042 (NC_000003.12:133473438:AA: 10/1690) Row 8823043 (NC_000003.12:133473439:A: 82/1690)...	-	Apr 25, 2020 (154)
88	Korean Genome Project Submission ignored due to conflicting rows: Row 8823041 (NC_000003.12:133473440::A 703/1690) Row 8823042 (NC_000003.12:133473438:AA: 10/1690) Row 8823043 (NC_000003.12:133473439:A: 82/1690)...	-	Apr 25, 2020 (154)
89	Korean Genome Project Submission ignored due to conflicting rows: Row 8823041 (NC_000003.12:133473440::A 703/1690) Row 8823042 (NC_000003.12:133473438:AA: 10/1690) Row 8823043 (NC_000003.12:133473439:A: 82/1690)...	-	Apr 25, 2020 (154)
90	Korean Genome Project Submission ignored due to conflicting rows: Row 8823041 (NC_000003.12:133473440::A 703/1690) Row 8823042 (NC_000003.12:133473438:AA: 10/1690) Row 8823043 (NC_000003.12:133473439:A: 82/1690)...	-	Apr 25, 2020 (154)
91	8.3KJPN Submission ignored due to conflicting rows: Row 19632273 (NC_000003.11:133192282::A 9281/16134) Row 19632274 (NC_000003.11:133192282:A: 17/16134) Row 19632275 (NC_000003.11:133192282::AA 266/16134)...	-	Apr 27, 2021 (155)
92	8.3KJPN Submission ignored due to conflicting rows: Row 19632273 (NC_000003.11:133192282::A 9281/16134) Row 19632274 (NC_000003.11:133192282:A: 17/16134) Row 19632275 (NC_000003.11:133192282::AA 266/16134)...	-	Apr 27, 2021 (155)
93	8.3KJPN Submission ignored due to conflicting rows: Row 19632273 (NC_000003.11:133192282::A 9281/16134) Row 19632274 (NC_000003.11:133192282:A: 17/16134) Row 19632275 (NC_000003.11:133192282::AA 266/16134)...	-	Apr 27, 2021 (155)
94	8.3KJPN Submission ignored due to conflicting rows: Row 19632273 (NC_000003.11:133192282::A 9281/16134) Row 19632274 (NC_000003.11:133192282:A: 17/16134) Row 19632275 (NC_000003.11:133192282::AA 266/16134)...	-	Apr 27, 2021 (155)
95	8.3KJPN Submission ignored due to conflicting rows: Row 19632273 (NC_000003.11:133192282::A 9281/16134) Row 19632274 (NC_000003.11:133192282:A: 17/16134) Row 19632275 (NC_000003.11:133192282::AA 266/16134)...	-	Apr 27, 2021 (155)
96	14KJPN Submission ignored due to conflicting rows: Row 28401493 (NC_000003.12:133473438::A 17267/28206) Row 28401494 (NC_000003.12:133473438::AA 470/28206) Row 28401495 (NC_000003.12:133473438:A: 24/28206)...	-	Oct 12, 2022 (156)
97	14KJPN Submission ignored due to conflicting rows: Row 28401493 (NC_000003.12:133473438::A 17267/28206) Row 28401494 (NC_000003.12:133473438::AA 470/28206) Row 28401495 (NC_000003.12:133473438:A: 24/28206)...	-	Oct 12, 2022 (156)
98	14KJPN Submission ignored due to conflicting rows: Row 28401493 (NC_000003.12:133473438::A 17267/28206) Row 28401494 (NC_000003.12:133473438::AA 470/28206) Row 28401495 (NC_000003.12:133473438:A: 24/28206)...	-	Oct 12, 2022 (156)
99	14KJPN Submission ignored due to conflicting rows: Row 28401493 (NC_000003.12:133473438::A 17267/28206) Row 28401494 (NC_000003.12:133473438::AA 470/28206) Row 28401495 (NC_000003.12:133473438:A: 24/28206)...	-	Oct 12, 2022 (156)
100	14KJPN Submission ignored due to conflicting rows: Row 28401493 (NC_000003.12:133473438::A 17267/28206) Row 28401494 (NC_000003.12:133473438::AA 470/28206) Row 28401495 (NC_000003.12:133473438:A: 24/28206)...	-	Oct 12, 2022 (156)
101	UK 10K study - Twins Submission ignored due to conflicting rows: Row 9740819 (NC_000003.11:133192282::A 1222/3708) Row 9740820 (NC_000003.11:133192282::AA 1740/3708)	-	Oct 12, 2018 (152)
102	UK 10K study - Twins Submission ignored due to conflicting rows: Row 9740819 (NC_000003.11:133192282::A 1222/3708) Row 9740820 (NC_000003.11:133192282::AA 1740/3708)	-	Oct 12, 2018 (152)
103	ALFA	NC_000003.12 - 133473439	Apr 27, 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
12515071915	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
ss4081081479	NC_000003.12:133473438:AAAAAAAAAA:	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
12515071915	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss5826505618	NC_000003.11:133192282:AAAAAAAAA:	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA
ss4081081478, ss5256086203, ss5871069064	NC_000003.12:133473438:AAAAAAAAA:	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
12515071915	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss4081081477, ss5256086201, ss5455219907	NC_000003.12:133473438:AAAAAAAA:	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
12515071915	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4081081476	NC_000003.12:133473438:AAAAAAA:	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
12515071915	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss5161662969	NC_000003.11:133192282:AAAAAA:	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4081081475, ss5694564393	NC_000003.12:133473438:AAAAAA:	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
12515071915	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4081081474	NC_000003.12:133473438:AAAAA:	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
12515071915	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4081081473	NC_000003.12:133473438:AAAA:	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
12515071915	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3710324106, ss4081081472	NC_000003.12:133473438:AAA:	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
12515071915	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3952445041, ss4081081471, ss5256086202	NC_000003.12:133473438:AA:	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
12515071915	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3710324105	NC_000003.12:133473439:AA:	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss5161662967	NC_000003.11:133192282:A:	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss5256086199, ss5455219906, ss5694564391	NC_000003.12:133473438:A:	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
12515071915	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3952445042	NC_000003.12:133473439:A:	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3710324104	NC_000003.12:133473440:A:	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss295126488	NC_000003.10:134674973::A	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss1703831015, ss1703831106, ss3789962649, ss3794837243, ss5161662966, ss5826505616	NC_000003.11:133192282::A	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4081081463, ss5256086198, ss5455219903, ss5694564389, ss5853845894	NC_000003.12:133473438::A	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
12515071915	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3952445040	NC_000003.12:133473440::A	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3710324103	NC_000003.12:133473441::A	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss42060320, ss81868216, ss81869568, ss95332134	NT_005612.16:39687449::A	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss1703831017, ss1703831108, ss5161662968, ss5826505617	NC_000003.11:133192282::AA	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4081081464, ss5256086200, ss5455219905, ss5694564390	NC_000003.12:133473438::AA	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
12515071915	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3952445045	NC_000003.12:133473440::AA	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3710324102	NC_000003.12:133473441::AA	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5161662970	NC_000003.11:133192282::AAA	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4081081465, ss5694564394	NC_000003.12:133473438::AAA	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
12515071915	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3952445044	NC_000003.12:133473440::AAA	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4081081466	NC_000003.12:133473438::AAAA	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
12515071915	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3952445043	NC_000003.12:133473440::AAAA	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4081081467	NC_000003.12:133473438::AAAAA	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4081081468	NC_000003.12:133473438::AAAAAA	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
12515071915	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4081081469	NC_000003.12:133473438::AAAAAAA	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4081081470	NC_000003.12:133473438::AAAAAAAA	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3405958580	NC_000003.12:133473438:AAAAAAAAAAA:	NC_000003.12:133473438:AAAAAAAAAAA… NC_000003.12:133473438:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA

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

No publications for rs748691333

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

rs748691333