Name: rs1491479223
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.

rs1491479223

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:28823745-28823746 (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: insT / insTAT / insTATAT / ins(TA)…
insT / insTAT / insTATAT / ins(TA)₃T / ins(TA)₄T / ins(TA)₅T / ins(TA)₆T / ins(TA)₇T / ins(TA)₈T / ins(TA)₉T / ins(TA)₁₀T / ins(TA)₁₁T / ins(TA)₆TGTAT / ins(TA)₄TGTAT / ins(TA)₃TGTAT / insTATATGTAT / insTATGTAT / insTGTAT
Variation Type: Insertion
Frequency: insT=0.00000 (0/11808, ALFA)
insTAT=0.00000 (0/11808, ALFA)
insTATAT=0.00000 (0/11808, ALFA) (+ 5 more)
ins(TA)₃T=0.00000 (0/11808, ALFA)
ins(TA)₄T=0.00000 (0/11808, ALFA)
ins(TA)₅T=0.00000 (0/11808, ALFA)
insTATGTAT=0.00000 (0/11808, ALFA)
insTGTAT=0.00000 (0/11808, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SPDYA : 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	11808	=1.00000	T=0.00000, TAT=0.00000, TATAT=0.00000, TATATAT=0.00000, TATATATAT=0.00000, TATATATATAT=0.00000, TATGTAT=0.00000, TGTAT=0.00000	1.0	N/A
European	Sub	7586	=1.0000	T=0.0000, TAT=0.0000, TATAT=0.0000, TATATAT=0.0000, TATATATAT=0.0000, TATATATATAT=0.0000, TATGTAT=0.0000, TGTAT=0.0000	1.0	N/A
African	Sub	2816	=1.0000	T=0.0000, TAT=0.0000, TATAT=0.0000, TATATAT=0.0000, TATATATAT=0.0000, TATATATATAT=0.0000, TATGTAT=0.0000, TGTAT=0.0000	1.0	N/A
African Others	Sub	108	=1.000	T=0.000, TAT=0.000, TATAT=0.000, TATATAT=0.000, TATATATAT=0.000, TATATATATAT=0.000, TATGTAT=0.000, TGTAT=0.000	1.0	N/A
African American	Sub	2708	=1.0000	T=0.0000, TAT=0.0000, TATAT=0.0000, TATATAT=0.0000, TATATATAT=0.0000, TATATATATAT=0.0000, TATGTAT=0.0000, TGTAT=0.0000	1.0	N/A
Asian	Sub	108	=1.000	T=0.000, TAT=0.000, TATAT=0.000, TATATAT=0.000, TATATATAT=0.000, TATATATATAT=0.000, TATGTAT=0.000, TGTAT=0.000	1.0	N/A
East Asian	Sub	84	=1.00	T=0.00, TAT=0.00, TATAT=0.00, TATATAT=0.00, TATATATAT=0.00, TATATATATAT=0.00, TATGTAT=0.00, TGTAT=0.00	1.0	N/A
Other Asian	Sub	24	=1.00	T=0.00, TAT=0.00, TATAT=0.00, TATATAT=0.00, TATATATAT=0.00, TATATATATAT=0.00, TATGTAT=0.00, TGTAT=0.00	1.0	N/A
Latin American 1	Sub	140	=1.000	T=0.000, TAT=0.000, TATAT=0.000, TATATAT=0.000, TATATATAT=0.000, TATATATATAT=0.000, TATGTAT=0.000, TGTAT=0.000	1.0	N/A
Latin American 2	Sub	608	=1.000	T=0.000, TAT=0.000, TATAT=0.000, TATATAT=0.000, TATATATAT=0.000, TATATATATAT=0.000, TATGTAT=0.000, TGTAT=0.000	1.0	N/A
South Asian	Sub	90	=1.00	T=0.00, TAT=0.00, TATAT=0.00, TATATAT=0.00, TATATATAT=0.00, TATATATATAT=0.00, TATGTAT=0.00, TGTAT=0.00	1.0	N/A
Other	Sub	460	=1.000	T=0.000, TAT=0.000, TATAT=0.000, TATATAT=0.000, TATATATAT=0.000, TATATATATAT=0.000, TATGTAT=0.000, TGTAT=0.000	1.0	N/A

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

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	11808	- No frequency provided	insT=0.00000, insTAT=0.00000, insTATAT=0.00000, ins(TA)₃T=0.00000, ins(TA)₄T=0.00000, ins(TA)₅T=0.00000, insTATGTAT=0.00000, insTGTAT=0.00000
Allele Frequency Aggregator	European	Sub	7586	- No frequency provided	insT=0.0000, insTAT=0.0000, insTATAT=0.0000, ins(TA)₃T=0.0000, ins(TA)₄T=0.0000, ins(TA)₅T=0.0000, insTATGTAT=0.0000, insTGTAT=0.0000
Allele Frequency Aggregator	African	Sub	2816	- No frequency provided	insT=0.0000, insTAT=0.0000, insTATAT=0.0000, ins(TA)₃T=0.0000, ins(TA)₄T=0.0000, ins(TA)₅T=0.0000, insTATGTAT=0.0000, insTGTAT=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	608	- No frequency provided	insT=0.000, insTAT=0.000, insTATAT=0.000, ins(TA)₃T=0.000, ins(TA)₄T=0.000, ins(TA)₅T=0.000, insTATGTAT=0.000, insTGTAT=0.000
Allele Frequency Aggregator	Other	Sub	460	- No frequency provided	insT=0.000, insTAT=0.000, insTATAT=0.000, ins(TA)₃T=0.000, ins(TA)₄T=0.000, ins(TA)₅T=0.000, insTATGTAT=0.000, insTGTAT=0.000
Allele Frequency Aggregator	Latin American 1	Sub	140	- No frequency provided	insT=0.000, insTAT=0.000, insTATAT=0.000, ins(TA)₃T=0.000, ins(TA)₄T=0.000, ins(TA)₅T=0.000, insTATGTAT=0.000, insTGTAT=0.000
Allele Frequency Aggregator	Asian	Sub	108	- No frequency provided	insT=0.000, insTAT=0.000, insTATAT=0.000, ins(TA)₃T=0.000, ins(TA)₄T=0.000, ins(TA)₅T=0.000, insTATGTAT=0.000, insTGTAT=0.000
Allele Frequency Aggregator	South Asian	Sub	90	- No frequency provided	insT=0.00, insTAT=0.00, insTATAT=0.00, ins(TA)₃T=0.00, ins(TA)₄T=0.00, ins(TA)₅T=0.00, insTATGTAT=0.00, insTGTAT=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 2	NC_000002.12:g.28823745_28823746insT
GRCh38.p14 chr 2	NC_000002.12:g.28823745_28823746insTAT
GRCh38.p14 chr 2	NC_000002.12:g.28823745_28823746insTATAT
GRCh38.p14 chr 2	NC_000002.12:g.28823745_28823746insTATATAT
GRCh38.p14 chr 2	NC_000002.12:g.28823745_28823746insTATATATAT
GRCh38.p14 chr 2	NC_000002.12:g.28823745_28823746insTATATATATAT
GRCh38.p14 chr 2	NC_000002.12:g.28823745_28823746insTATATATATATAT
GRCh38.p14 chr 2	NC_000002.12:g.28823745_28823746insTATATATATATATAT
GRCh38.p14 chr 2	NC_000002.12:g.28823745_28823746insTATATATATATATATAT
GRCh38.p14 chr 2	NC_000002.12:g.28823745_28823746insTATATATATATATATATAT
GRCh38.p14 chr 2	NC_000002.12:g.28823745_28823746insTATATATATATATATATATAT
GRCh38.p14 chr 2	NC_000002.12:g.28823745_28823746insTATATATATATATATATATATAT
GRCh38.p14 chr 2	NC_000002.12:g.28823745_28823746insTATATATATATATGTAT
GRCh38.p14 chr 2	NC_000002.12:g.28823745_28823746insTATATATATGTAT
GRCh38.p14 chr 2	NC_000002.12:g.28823745_28823746insTATATATGTAT
GRCh38.p14 chr 2	NC_000002.12:g.28823745_28823746insTATATGTAT
GRCh38.p14 chr 2	NC_000002.12:g.28823745_28823746insTATGTAT
GRCh38.p14 chr 2	NC_000002.12:g.28823745_28823746insTGTAT
GRCh37.p13 chr 2	NC_000002.11:g.29046611_29046612insT
GRCh37.p13 chr 2	NC_000002.11:g.29046611_29046612insTAT
GRCh37.p13 chr 2	NC_000002.11:g.29046611_29046612insTATAT
GRCh37.p13 chr 2	NC_000002.11:g.29046611_29046612insTATATAT
GRCh37.p13 chr 2	NC_000002.11:g.29046611_29046612insTATATATAT
GRCh37.p13 chr 2	NC_000002.11:g.29046611_29046612insTATATATATAT
GRCh37.p13 chr 2	NC_000002.11:g.29046611_29046612insTATATATATATAT
GRCh37.p13 chr 2	NC_000002.11:g.29046611_29046612insTATATATATATATAT
GRCh37.p13 chr 2	NC_000002.11:g.29046611_29046612insTATATATATATATATAT
GRCh37.p13 chr 2	NC_000002.11:g.29046611_29046612insTATATATATATATATATAT
GRCh37.p13 chr 2	NC_000002.11:g.29046611_29046612insTATATATATATATATATATAT
GRCh37.p13 chr 2	NC_000002.11:g.29046611_29046612insTATATATATATATATATATATAT
GRCh37.p13 chr 2	NC_000002.11:g.29046611_29046612insTATATATATATATGTAT
GRCh37.p13 chr 2	NC_000002.11:g.29046611_29046612insTATATATATGTAT
GRCh37.p13 chr 2	NC_000002.11:g.29046611_29046612insTATATATGTAT
GRCh37.p13 chr 2	NC_000002.11:g.29046611_29046612insTATATGTAT
GRCh37.p13 chr 2	NC_000002.11:g.29046611_29046612insTATGTAT
GRCh37.p13 chr 2	NC_000002.11:g.29046611_29046612insTGTAT

Gene: SPDYA, speedy/RINGO cell cycle regulator family member A (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SPDYA transcript variant 2	NM_001008779.1:c.380+1335… NM_001008779.1:c.380+1335_380+1336insT	N/A	Intron Variant
SPDYA transcript variant 3	NM_001142634.2:c.380+1335… NM_001142634.2:c.380+1335_380+1336insT	N/A	Intron Variant
SPDYA transcript variant 1	NM_182756.4:c.380+1335_38… NM_182756.4:c.380+1335_380+1336insT	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	=	insT	insTAT	insTATAT	ins(TA)₃T	ins(TA)₄T	ins(TA)₅T	ins(TA)₆T	ins(TA)₇T	ins(TA)₈T	ins(TA)₉T	ins(TA)₁₀T	ins(TA)₁₁T	ins(TA)₆TGTAT	ins(TA)₄TGTAT	ins(TA)₃TGTAT	insTATATGTAT	insTATGTAT	insTGTAT
GRCh38.p14 chr 2	NC_000002.12:g.28823745_28823746=	NC_000002.12:g.28823745_28823746insT	NC_000002.12:g.28823745_28823746insTAT	NC_000002.12:g.28823745_28823746insTATAT	NC_000002.12:g.28823745_28823746insTATATAT	NC_000002.12:g.28823745_28823746insTATATATAT	NC_000002.12:g.28823745_28823746insTATATATATAT	NC_000002.12:g.28823745_28823746insTATATATATATAT	NC_000002.12:g.28823745_28823746insTATATATATATATAT	NC_000002.12:g.28823745_28823746insTATATATATATATATAT	NC_000002.12:g.28823745_28823746insTATATATATATATATATAT	NC_000002.12:g.28823745_28823746insTATATATATATATATATATAT	NC_000002.12:g.28823745_28823746insTATATATATATATATATATATAT	NC_000002.12:g.28823745_28823746insTATATATATATATGTAT	NC_000002.12:g.28823745_28823746insTATATATATGTAT	NC_000002.12:g.28823745_28823746insTATATATGTAT	NC_000002.12:g.28823745_28823746insTATATGTAT	NC_000002.12:g.28823745_28823746insTATGTAT	NC_000002.12:g.28823745_28823746insTGTAT
GRCh37.p13 chr 2	NC_000002.11:g.29046611_29046612=	NC_000002.11:g.29046611_29046612insT	NC_000002.11:g.29046611_29046612insTAT	NC_000002.11:g.29046611_29046612insTATAT	NC_000002.11:g.29046611_29046612insTATATAT	NC_000002.11:g.29046611_29046612insTATATATAT	NC_000002.11:g.29046611_29046612insTATATATATAT	NC_000002.11:g.29046611_29046612insTATATATATATAT	NC_000002.11:g.29046611_29046612insTATATATATATATAT	NC_000002.11:g.29046611_29046612insTATATATATATATATAT	NC_000002.11:g.29046611_29046612insTATATATATATATATATAT	NC_000002.11:g.29046611_29046612insTATATATATATATATATATAT	NC_000002.11:g.29046611_29046612insTATATATATATATATATATATAT	NC_000002.11:g.29046611_29046612insTATATATATATATGTAT	NC_000002.11:g.29046611_29046612insTATATATATGTAT	NC_000002.11:g.29046611_29046612insTATATATGTAT	NC_000002.11:g.29046611_29046612insTATATGTAT	NC_000002.11:g.29046611_29046612insTATGTAT	NC_000002.11:g.29046611_29046612insTGTAT
SPDYA transcript variant 2	NM_001008779.1:c.380+1336=	NM_001008779.1:c.380+1335_380+1336insT	NM_001008779.1:c.380+1335_380+1336insTAT	NM_001008779.1:c.380+1335_380+1336insTATAT	NM_001008779.1:c.380+1335_380+1336insTATATAT	NM_001008779.1:c.380+1335_380+1336insTATATATAT	NM_001008779.1:c.380+1335_380+1336insTATATATATAT	NM_001008779.1:c.380+1335_380+1336insTATATATATATAT	NM_001008779.1:c.380+1335_380+1336insTATATATATATATAT	NM_001008779.1:c.380+1335_380+1336insTATATATATATATATAT	NM_001008779.1:c.380+1335_380+1336insTATATATATATATATATAT	NM_001008779.1:c.380+1335_380+1336insTATATATATATATATATATAT	NM_001008779.1:c.380+1335_380+1336insTATATATATATATATATATATAT	NM_001008779.1:c.380+1335_380+1336insTATATATATATATGTAT	NM_001008779.1:c.380+1335_380+1336insTATATATATGTAT	NM_001008779.1:c.380+1335_380+1336insTATATATGTAT	NM_001008779.1:c.380+1335_380+1336insTATATGTAT	NM_001008779.1:c.380+1335_380+1336insTATGTAT	NM_001008779.1:c.380+1335_380+1336insTGTAT
SPDYA transcript variant 3	NM_001142634.1:c.380+1336=	NM_001142634.1:c.380+1335_380+1336insT	NM_001142634.1:c.380+1335_380+1336insTAT	NM_001142634.1:c.380+1335_380+1336insTATAT	NM_001142634.1:c.380+1335_380+1336insTATATAT	NM_001142634.1:c.380+1335_380+1336insTATATATAT	NM_001142634.1:c.380+1335_380+1336insTATATATATAT	NM_001142634.1:c.380+1335_380+1336insTATATATATATAT	NM_001142634.1:c.380+1335_380+1336insTATATATATATATAT	NM_001142634.1:c.380+1335_380+1336insTATATATATATATATAT	NM_001142634.1:c.380+1335_380+1336insTATATATATATATATATAT	NM_001142634.1:c.380+1335_380+1336insTATATATATATATATATATAT	NM_001142634.1:c.380+1335_380+1336insTATATATATATATATATATATAT	NM_001142634.1:c.380+1335_380+1336insTATATATATATATGTAT	NM_001142634.1:c.380+1335_380+1336insTATATATATGTAT	NM_001142634.1:c.380+1335_380+1336insTATATATGTAT	NM_001142634.1:c.380+1335_380+1336insTATATGTAT	NM_001142634.1:c.380+1335_380+1336insTATGTAT	NM_001142634.1:c.380+1335_380+1336insTGTAT
SPDYA transcript variant 3	NM_001142634.2:c.380+1336=	NM_001142634.2:c.380+1335_380+1336insT	NM_001142634.2:c.380+1335_380+1336insTAT	NM_001142634.2:c.380+1335_380+1336insTATAT	NM_001142634.2:c.380+1335_380+1336insTATATAT	NM_001142634.2:c.380+1335_380+1336insTATATATAT	NM_001142634.2:c.380+1335_380+1336insTATATATATAT	NM_001142634.2:c.380+1335_380+1336insTATATATATATAT	NM_001142634.2:c.380+1335_380+1336insTATATATATATATAT	NM_001142634.2:c.380+1335_380+1336insTATATATATATATATAT	NM_001142634.2:c.380+1335_380+1336insTATATATATATATATATAT	NM_001142634.2:c.380+1335_380+1336insTATATATATATATATATATAT	NM_001142634.2:c.380+1335_380+1336insTATATATATATATATATATATAT	NM_001142634.2:c.380+1335_380+1336insTATATATATATATGTAT	NM_001142634.2:c.380+1335_380+1336insTATATATATGTAT	NM_001142634.2:c.380+1335_380+1336insTATATATGTAT	NM_001142634.2:c.380+1335_380+1336insTATATGTAT	NM_001142634.2:c.380+1335_380+1336insTATGTAT	NM_001142634.2:c.380+1335_380+1336insTGTAT
SPDYA transcript variant 1	NM_182756.3:c.380+1336=	NM_182756.3:c.380+1335_380+1336insT	NM_182756.3:c.380+1335_380+1336insTAT	NM_182756.3:c.380+1335_380+1336insTATAT	NM_182756.3:c.380+1335_380+1336insTATATAT	NM_182756.3:c.380+1335_380+1336insTATATATAT	NM_182756.3:c.380+1335_380+1336insTATATATATAT	NM_182756.3:c.380+1335_380+1336insTATATATATATAT	NM_182756.3:c.380+1335_380+1336insTATATATATATATAT	NM_182756.3:c.380+1335_380+1336insTATATATATATATATAT	NM_182756.3:c.380+1335_380+1336insTATATATATATATATATAT	NM_182756.3:c.380+1335_380+1336insTATATATATATATATATATAT	NM_182756.3:c.380+1335_380+1336insTATATATATATATATATATATAT	NM_182756.3:c.380+1335_380+1336insTATATATATATATGTAT	NM_182756.3:c.380+1335_380+1336insTATATATATGTAT	NM_182756.3:c.380+1335_380+1336insTATATATGTAT	NM_182756.3:c.380+1335_380+1336insTATATGTAT	NM_182756.3:c.380+1335_380+1336insTATGTAT	NM_182756.3:c.380+1335_380+1336insTGTAT
SPDYA transcript variant 1	NM_182756.4:c.380+1336=	NM_182756.4:c.380+1335_380+1336insT	NM_182756.4:c.380+1335_380+1336insTAT	NM_182756.4:c.380+1335_380+1336insTATAT	NM_182756.4:c.380+1335_380+1336insTATATAT	NM_182756.4:c.380+1335_380+1336insTATATATAT	NM_182756.4:c.380+1335_380+1336insTATATATATAT	NM_182756.4:c.380+1335_380+1336insTATATATATATAT	NM_182756.4:c.380+1335_380+1336insTATATATATATATAT	NM_182756.4:c.380+1335_380+1336insTATATATATATATATAT	NM_182756.4:c.380+1335_380+1336insTATATATATATATATATAT	NM_182756.4:c.380+1335_380+1336insTATATATATATATATATATAT	NM_182756.4:c.380+1335_380+1336insTATATATATATATATATATATAT	NM_182756.4:c.380+1335_380+1336insTATATATATATATGTAT	NM_182756.4:c.380+1335_380+1336insTATATATATGTAT	NM_182756.4:c.380+1335_380+1336insTATATATGTAT	NM_182756.4:c.380+1335_380+1336insTATATGTAT	NM_182756.4:c.380+1335_380+1336insTATGTAT	NM_182756.4:c.380+1335_380+1336insTGTAT
SPDYA transcript variant X1	XM_005264239.1:c.380+1336=	XM_005264239.1:c.380+1335_380+1336insT	XM_005264239.1:c.380+1335_380+1336insTAT	XM_005264239.1:c.380+1335_380+1336insTATAT	XM_005264239.1:c.380+1335_380+1336insTATATAT	XM_005264239.1:c.380+1335_380+1336insTATATATAT	XM_005264239.1:c.380+1335_380+1336insTATATATATAT	XM_005264239.1:c.380+1335_380+1336insTATATATATATAT	XM_005264239.1:c.380+1335_380+1336insTATATATATATATAT	XM_005264239.1:c.380+1335_380+1336insTATATATATATATATAT	XM_005264239.1:c.380+1335_380+1336insTATATATATATATATATAT	XM_005264239.1:c.380+1335_380+1336insTATATATATATATATATATAT	XM_005264239.1:c.380+1335_380+1336insTATATATATATATATATATATAT	XM_005264239.1:c.380+1335_380+1336insTATATATATATATGTAT	XM_005264239.1:c.380+1335_380+1336insTATATATATGTAT	XM_005264239.1:c.380+1335_380+1336insTATATATGTAT	XM_005264239.1:c.380+1335_380+1336insTATATGTAT	XM_005264239.1:c.380+1335_380+1336insTATGTAT	XM_005264239.1:c.380+1335_380+1336insTGTAT
SPDYA transcript variant X2	XM_005264240.1:c.380+1336=	XM_005264240.1:c.380+1335_380+1336insT	XM_005264240.1:c.380+1335_380+1336insTAT	XM_005264240.1:c.380+1335_380+1336insTATAT	XM_005264240.1:c.380+1335_380+1336insTATATAT	XM_005264240.1:c.380+1335_380+1336insTATATATAT	XM_005264240.1:c.380+1335_380+1336insTATATATATAT	XM_005264240.1:c.380+1335_380+1336insTATATATATATAT	XM_005264240.1:c.380+1335_380+1336insTATATATATATATAT	XM_005264240.1:c.380+1335_380+1336insTATATATATATATATAT	XM_005264240.1:c.380+1335_380+1336insTATATATATATATATATAT	XM_005264240.1:c.380+1335_380+1336insTATATATATATATATATATAT	XM_005264240.1:c.380+1335_380+1336insTATATATATATATATATATATAT	XM_005264240.1:c.380+1335_380+1336insTATATATATATATGTAT	XM_005264240.1:c.380+1335_380+1336insTATATATATGTAT	XM_005264240.1:c.380+1335_380+1336insTATATATGTAT	XM_005264240.1:c.380+1335_380+1336insTATATGTAT	XM_005264240.1:c.380+1335_380+1336insTATGTAT	XM_005264240.1:c.380+1335_380+1336insTGTAT
SPDYA transcript variant X3	XM_005264241.1:c.380+1336=	XM_005264241.1:c.380+1335_380+1336insT	XM_005264241.1:c.380+1335_380+1336insTAT	XM_005264241.1:c.380+1335_380+1336insTATAT	XM_005264241.1:c.380+1335_380+1336insTATATAT	XM_005264241.1:c.380+1335_380+1336insTATATATAT	XM_005264241.1:c.380+1335_380+1336insTATATATATAT	XM_005264241.1:c.380+1335_380+1336insTATATATATATAT	XM_005264241.1:c.380+1335_380+1336insTATATATATATATAT	XM_005264241.1:c.380+1335_380+1336insTATATATATATATATAT	XM_005264241.1:c.380+1335_380+1336insTATATATATATATATATAT	XM_005264241.1:c.380+1335_380+1336insTATATATATATATATATATAT	XM_005264241.1:c.380+1335_380+1336insTATATATATATATATATATATAT	XM_005264241.1:c.380+1335_380+1336insTATATATATATATGTAT	XM_005264241.1:c.380+1335_380+1336insTATATATATGTAT	XM_005264241.1:c.380+1335_380+1336insTATATATGTAT	XM_005264241.1:c.380+1335_380+1336insTATATGTAT	XM_005264241.1:c.380+1335_380+1336insTATGTAT	XM_005264241.1:c.380+1335_380+1336insTGTAT

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#.

35 SubSNP, 29 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	MCHAISSO	ss3065732661	Jan 10, 2018 (151)
2	EVA_DECODE	ss3703507304	Jul 13, 2019 (153)
3	EVA_DECODE	ss3703507305	Jul 13, 2019 (153)
4	EVA_DECODE	ss3703507306	Jul 13, 2019 (153)
5	EVA_DECODE	ss3703507307	Jul 13, 2019 (153)
6	EVA_DECODE	ss3703507308	Jul 13, 2019 (153)
7	GNOMAD	ss4037805651	Apr 26, 2021 (155)
8	GNOMAD	ss4037805652	Apr 26, 2021 (155)
9	GNOMAD	ss4037805653	Apr 26, 2021 (155)
10	GNOMAD	ss4037805654	Apr 26, 2021 (155)
11	GNOMAD	ss4037805655	Apr 26, 2021 (155)
12	GNOMAD	ss4037805656	Apr 26, 2021 (155)
13	GNOMAD	ss4037805657	Apr 26, 2021 (155)
14	GNOMAD	ss4037805658	Apr 26, 2021 (155)
15	GNOMAD	ss4037805659	Apr 26, 2021 (155)
16	GNOMAD	ss4037805660	Apr 26, 2021 (155)
17	GNOMAD	ss4037805661	Apr 26, 2021 (155)
18	GNOMAD	ss4037805662	Apr 26, 2021 (155)
19	GNOMAD	ss4037805663	Apr 26, 2021 (155)
20	GNOMAD	ss4037805664	Apr 26, 2021 (155)
21	GNOMAD	ss4037805665	Apr 26, 2021 (155)
22	GNOMAD	ss4037805666	Apr 26, 2021 (155)
23	GNOMAD	ss4037805667	Apr 26, 2021 (155)
24	GNOMAD	ss4037805668	Apr 26, 2021 (155)
25	TOMMO_GENOMICS	ss5150461663	Apr 26, 2021 (155)
26	TOMMO_GENOMICS	ss5150461664	Apr 26, 2021 (155)
27	TOMMO_GENOMICS	ss5150461665	Apr 26, 2021 (155)
28	TOMMO_GENOMICS	ss5150461666	Apr 26, 2021 (155)
29	TOMMO_GENOMICS	ss5150461667	Apr 26, 2021 (155)
30	1000G_HIGH_COVERAGE	ss5247370416	Oct 17, 2022 (156)
31	TOMMO_GENOMICS	ss5678826501	Oct 17, 2022 (156)
32	TOMMO_GENOMICS	ss5678826502	Oct 17, 2022 (156)
33	TOMMO_GENOMICS	ss5678826503	Oct 17, 2022 (156)
34	TOMMO_GENOMICS	ss5678826504	Oct 17, 2022 (156)
35	TOMMO_GENOMICS	ss5678826505	Oct 17, 2022 (156)
36	gnomAD - Genomes Submission ignored due to conflicting rows: Row 52251538 (NC_000002.12:28823745::T 250/39660) Row 52251539 (NC_000002.12:28823745::TAT 243/39626) Row 52251540 (NC_000002.12:28823745::TATAT 334/39494)...	-	Apr 26, 2021 (155)
37	gnomAD - Genomes Submission ignored due to conflicting rows: Row 52251538 (NC_000002.12:28823745::T 250/39660) Row 52251539 (NC_000002.12:28823745::TAT 243/39626) Row 52251540 (NC_000002.12:28823745::TATAT 334/39494)...	-	Apr 26, 2021 (155)
38	gnomAD - Genomes Submission ignored due to conflicting rows: Row 52251538 (NC_000002.12:28823745::T 250/39660) Row 52251539 (NC_000002.12:28823745::TAT 243/39626) Row 52251540 (NC_000002.12:28823745::TATAT 334/39494)...	-	Apr 26, 2021 (155)
39	gnomAD - Genomes Submission ignored due to conflicting rows: Row 52251538 (NC_000002.12:28823745::T 250/39660) Row 52251539 (NC_000002.12:28823745::TAT 243/39626) Row 52251540 (NC_000002.12:28823745::TATAT 334/39494)...	-	Apr 26, 2021 (155)
40	gnomAD - Genomes Submission ignored due to conflicting rows: Row 52251538 (NC_000002.12:28823745::T 250/39660) Row 52251539 (NC_000002.12:28823745::TAT 243/39626) Row 52251540 (NC_000002.12:28823745::TATAT 334/39494)...	-	Apr 26, 2021 (155)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 52251538 (NC_000002.12:28823745::T 250/39660) Row 52251539 (NC_000002.12:28823745::TAT 243/39626) Row 52251540 (NC_000002.12:28823745::TATAT 334/39494)...	-	Apr 26, 2021 (155)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 52251538 (NC_000002.12:28823745::T 250/39660) Row 52251539 (NC_000002.12:28823745::TAT 243/39626) Row 52251540 (NC_000002.12:28823745::TATAT 334/39494)...	-	Apr 26, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 52251538 (NC_000002.12:28823745::T 250/39660) Row 52251539 (NC_000002.12:28823745::TAT 243/39626) Row 52251540 (NC_000002.12:28823745::TATAT 334/39494)...	-	Apr 26, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 52251538 (NC_000002.12:28823745::T 250/39660) Row 52251539 (NC_000002.12:28823745::TAT 243/39626) Row 52251540 (NC_000002.12:28823745::TATAT 334/39494)...	-	Apr 26, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 52251538 (NC_000002.12:28823745::T 250/39660) Row 52251539 (NC_000002.12:28823745::TAT 243/39626) Row 52251540 (NC_000002.12:28823745::TATAT 334/39494)...	-	Apr 26, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 52251538 (NC_000002.12:28823745::T 250/39660) Row 52251539 (NC_000002.12:28823745::TAT 243/39626) Row 52251540 (NC_000002.12:28823745::TATAT 334/39494)...	-	Apr 26, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 52251538 (NC_000002.12:28823745::T 250/39660) Row 52251539 (NC_000002.12:28823745::TAT 243/39626) Row 52251540 (NC_000002.12:28823745::TATAT 334/39494)...	-	Apr 26, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 52251538 (NC_000002.12:28823745::T 250/39660) Row 52251539 (NC_000002.12:28823745::TAT 243/39626) Row 52251540 (NC_000002.12:28823745::TATAT 334/39494)...	-	Apr 26, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 52251538 (NC_000002.12:28823745::T 250/39660) Row 52251539 (NC_000002.12:28823745::TAT 243/39626) Row 52251540 (NC_000002.12:28823745::TATAT 334/39494)...	-	Apr 26, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 52251538 (NC_000002.12:28823745::T 250/39660) Row 52251539 (NC_000002.12:28823745::TAT 243/39626) Row 52251540 (NC_000002.12:28823745::TATAT 334/39494)...	-	Apr 26, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 52251538 (NC_000002.12:28823745::T 250/39660) Row 52251539 (NC_000002.12:28823745::TAT 243/39626) Row 52251540 (NC_000002.12:28823745::TATAT 334/39494)...	-	Apr 26, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 52251538 (NC_000002.12:28823745::T 250/39660) Row 52251539 (NC_000002.12:28823745::TAT 243/39626) Row 52251540 (NC_000002.12:28823745::TATAT 334/39494)...	-	Apr 26, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 52251538 (NC_000002.12:28823745::T 250/39660) Row 52251539 (NC_000002.12:28823745::TAT 243/39626) Row 52251540 (NC_000002.12:28823745::TATAT 334/39494)...	-	Apr 26, 2021 (155)
54	8.3KJPN Submission ignored due to conflicting rows: Row 8430970 (NC_000002.11:29046611::T 43/16606) Row 8430971 (NC_000002.11:29046611::TAT 108/16606) Row 8430972 (NC_000002.11:29046611::TATATAT 34/16606)...	-	Apr 26, 2021 (155)
55	8.3KJPN Submission ignored due to conflicting rows: Row 8430970 (NC_000002.11:29046611::T 43/16606) Row 8430971 (NC_000002.11:29046611::TAT 108/16606) Row 8430972 (NC_000002.11:29046611::TATATAT 34/16606)...	-	Apr 26, 2021 (155)
56	8.3KJPN Submission ignored due to conflicting rows: Row 8430970 (NC_000002.11:29046611::T 43/16606) Row 8430971 (NC_000002.11:29046611::TAT 108/16606) Row 8430972 (NC_000002.11:29046611::TATATAT 34/16606)...	-	Apr 26, 2021 (155)
57	8.3KJPN Submission ignored due to conflicting rows: Row 8430970 (NC_000002.11:29046611::T 43/16606) Row 8430971 (NC_000002.11:29046611::TAT 108/16606) Row 8430972 (NC_000002.11:29046611::TATATAT 34/16606)...	-	Apr 26, 2021 (155)
58	8.3KJPN Submission ignored due to conflicting rows: Row 8430970 (NC_000002.11:29046611::T 43/16606) Row 8430971 (NC_000002.11:29046611::TAT 108/16606) Row 8430972 (NC_000002.11:29046611::TATATAT 34/16606)...	-	Apr 26, 2021 (155)
59	14KJPN Submission ignored due to conflicting rows: Row 12663605 (NC_000002.12:28823745::TATAT 93/28130) Row 12663606 (NC_000002.12:28823745::T 105/28130) Row 12663607 (NC_000002.12:28823745::TAT 205/28130)...	-	Oct 17, 2022 (156)
60	14KJPN Submission ignored due to conflicting rows: Row 12663605 (NC_000002.12:28823745::TATAT 93/28130) Row 12663606 (NC_000002.12:28823745::T 105/28130) Row 12663607 (NC_000002.12:28823745::TAT 205/28130)...	-	Oct 17, 2022 (156)
61	14KJPN Submission ignored due to conflicting rows: Row 12663605 (NC_000002.12:28823745::TATAT 93/28130) Row 12663606 (NC_000002.12:28823745::T 105/28130) Row 12663607 (NC_000002.12:28823745::TAT 205/28130)...	-	Oct 17, 2022 (156)
62	14KJPN Submission ignored due to conflicting rows: Row 12663605 (NC_000002.12:28823745::TATAT 93/28130) Row 12663606 (NC_000002.12:28823745::T 105/28130) Row 12663607 (NC_000002.12:28823745::TAT 205/28130)...	-	Oct 17, 2022 (156)
63	14KJPN Submission ignored due to conflicting rows: Row 12663605 (NC_000002.12:28823745::TATAT 93/28130) Row 12663606 (NC_000002.12:28823745::T 105/28130) Row 12663607 (NC_000002.12:28823745::TAT 205/28130)...	-	Oct 17, 2022 (156)
64	ALFA	NC_000002.12 - 28823746	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:

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

No publications for rs1491479223

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

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss5150461663	NC_000002.11:29046611::T	NC_000002.12:28823745::T	(self)
4424351707, ss4037805651, ss5678826502	NC_000002.12:28823745::T	NC_000002.12:28823745::T	(self)
ss5150461664	NC_000002.11:29046611::TAT	NC_000002.12:28823745::TAT	(self)
4424351707, ss3065732661, ss4037805652, ss5678826503	NC_000002.12:28823745::TAT	NC_000002.12:28823745::TAT	(self)
ss5150461667	NC_000002.11:29046611::TATAT	NC_000002.12:28823745::TATAT	(self)
4424351707, ss3703507308, ss4037805653, ss5678826501	NC_000002.12:28823745::TATAT	NC_000002.12:28823745::TATAT	(self)
ss5150461665	NC_000002.11:29046611::TATATAT	NC_000002.12:28823745::TATATAT	(self)
4424351707, ss3703507307, ss4037805654, ss5247370416, ss5678826504	NC_000002.12:28823745::TATATAT	NC_000002.12:28823745::TATATAT	(self)
ss5150461666	NC_000002.11:29046611::TATATATAT	NC_000002.12:28823745::TATATATAT	(self)
4424351707, ss3703507306, ss4037805655	NC_000002.12:28823745::TATATATAT	NC_000002.12:28823745::TATATATAT	(self)
4424351707, ss3703507305, ss4037805656	NC_000002.12:28823745::TATATATATAT	NC_000002.12:28823745::TATATATATAT	(self)
ss3703507304, ss4037805657, ss5678826505	NC_000002.12:28823745::TATATATATAT… NC_000002.12:28823745::TATATATATATAT	NC_000002.12:28823745::TATATATATAT… NC_000002.12:28823745::TATATATATATAT	(self)
ss4037805658	NC_000002.12:28823745::TATATATATAT… NC_000002.12:28823745::TATATATATATATAT	NC_000002.12:28823745::TATATATATAT… NC_000002.12:28823745::TATATATATATATAT	(self)
ss4037805659	NC_000002.12:28823745::TATATATATAT… NC_000002.12:28823745::TATATATATATATATAT	NC_000002.12:28823745::TATATATATAT… NC_000002.12:28823745::TATATATATATATATAT	(self)
ss4037805660	NC_000002.12:28823745::TATATATATAT… NC_000002.12:28823745::TATATATATATATATATAT	NC_000002.12:28823745::TATATATATAT… NC_000002.12:28823745::TATATATATATATATATAT	(self)
ss4037805661	NC_000002.12:28823745::TATATATATAT… NC_000002.12:28823745::TATATATATATATATATATAT	NC_000002.12:28823745::TATATATATAT… NC_000002.12:28823745::TATATATATATATATATATAT	(self)
ss4037805662	NC_000002.12:28823745::TATATATATAT… NC_000002.12:28823745::TATATATATATATATATATATAT	NC_000002.12:28823745::TATATATATAT… NC_000002.12:28823745::TATATATATATATATATATATAT	(self)
ss4037805663	NC_000002.12:28823745::TATATATATAT… NC_000002.12:28823745::TATATATATATATGTAT	NC_000002.12:28823745::TATATATATAT… NC_000002.12:28823745::TATATATATATATGTAT	(self)
ss4037805664	NC_000002.12:28823745::TATATATATGT… NC_000002.12:28823745::TATATATATGTAT	NC_000002.12:28823745::TATATATATGT… NC_000002.12:28823745::TATATATATGTAT	(self)
ss4037805665	NC_000002.12:28823745::TATATATGTAT	NC_000002.12:28823745::TATATATGTAT	(self)
ss4037805666	NC_000002.12:28823745::TATATGTAT	NC_000002.12:28823745::TATATGTAT	(self)
4424351707, ss4037805667	NC_000002.12:28823745::TATGTAT	NC_000002.12:28823745::TATGTAT	(self)
4424351707, ss4037805668	NC_000002.12:28823745::TGTAT	NC_000002.12:28823745::TGTAT	(self)

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1491479223