Name: rs1491208722
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.

rs1491208722

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:47819353-47819354 (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)₁₁T / ins(TA)₁₂T / ins(TA)₁₃T / ins(TA)₁₄T / ins(TA)₁₅T / ins(TA)₁₆T / ins(TA)₁₇T / ins(TA)₁₈T / insTGT
Variation Type: Insertion
Frequency: insT=0.00000 (0/11858, ALFA)
insTAT=0.00000 (0/11858, ALFA)
ins(TA)₃T=0.00000 (0/11858, ALFA) (+ 2 more)
ins(TA)₄T=0.00000 (0/11858, ALFA)
ins(TA)₆T=0.00000 (0/11858, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: OPN5 : 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	11858	=1.00000	T=0.00000, TAT=0.00000, TATATAT=0.00000, TATATATAT=0.00000, TATATATATATAT=0.00000	1.0	N/A
European	Sub	7618	=1.0000	T=0.0000, TAT=0.0000, TATATAT=0.0000, TATATATAT=0.0000, TATATATATATAT=0.0000	1.0	N/A
African	Sub	2812	=1.0000	T=0.0000, TAT=0.0000, TATATAT=0.0000, TATATATAT=0.0000, TATATATATATAT=0.0000	1.0	N/A
African Others	Sub	108	=1.000	T=0.000, TAT=0.000, TATATAT=0.000, TATATATAT=0.000, TATATATATATAT=0.000	1.0	N/A
African American	Sub	2704	=1.0000	T=0.0000, TAT=0.0000, TATATAT=0.0000, TATATATAT=0.0000, TATATATATATAT=0.0000	1.0	N/A
Asian	Sub	108	=1.000	T=0.000, TAT=0.000, TATATAT=0.000, TATATATAT=0.000, TATATATATATAT=0.000	1.0	N/A
East Asian	Sub	84	=1.00	T=0.00, TAT=0.00, TATATAT=0.00, TATATATAT=0.00, TATATATATATAT=0.00	1.0	N/A
Other Asian	Sub	24	=1.00	T=0.00, TAT=0.00, TATATAT=0.00, TATATATAT=0.00, TATATATATATAT=0.00	1.0	N/A
Latin American 1	Sub	146	=1.000	T=0.000, TAT=0.000, TATATAT=0.000, TATATATAT=0.000, TATATATATATAT=0.000	1.0	N/A
Latin American 2	Sub	610	=1.000	T=0.000, TAT=0.000, TATATAT=0.000, TATATATAT=0.000, TATATATATATAT=0.000	1.0	N/A
South Asian	Sub	94	=1.00	T=0.00, TAT=0.00, TATATAT=0.00, TATATATAT=0.00, TATATATATATAT=0.00	1.0	N/A
Other	Sub	470	=1.000	T=0.000, TAT=0.000, TATATAT=0.000, TATATATAT=0.000, TATATATATATAT=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	11858	- No frequency provided	insT=0.00000, insTAT=0.00000, ins(TA)₃T=0.00000, ins(TA)₄T=0.00000, ins(TA)₆T=0.00000
Allele Frequency Aggregator	European	Sub	7618	- No frequency provided	insT=0.0000, insTAT=0.0000, ins(TA)₃T=0.0000, ins(TA)₄T=0.0000, ins(TA)₆T=0.0000
Allele Frequency Aggregator	African	Sub	2812	- No frequency provided	insT=0.0000, insTAT=0.0000, ins(TA)₃T=0.0000, ins(TA)₄T=0.0000, ins(TA)₆T=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	610	- No frequency provided	insT=0.000, insTAT=0.000, ins(TA)₃T=0.000, ins(TA)₄T=0.000, ins(TA)₆T=0.000
Allele Frequency Aggregator	Other	Sub	470	- No frequency provided	insT=0.000, insTAT=0.000, ins(TA)₃T=0.000, ins(TA)₄T=0.000, ins(TA)₆T=0.000
Allele Frequency Aggregator	Latin American 1	Sub	146	- No frequency provided	insT=0.000, insTAT=0.000, ins(TA)₃T=0.000, ins(TA)₄T=0.000, ins(TA)₆T=0.000
Allele Frequency Aggregator	Asian	Sub	108	- No frequency provided	insT=0.000, insTAT=0.000, ins(TA)₃T=0.000, ins(TA)₄T=0.000, ins(TA)₆T=0.000
Allele Frequency Aggregator	South Asian	Sub	94	- No frequency provided	insT=0.00, insTAT=0.00, ins(TA)₃T=0.00, ins(TA)₄T=0.00, ins(TA)₆T=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 6	NC_000006.12:g.47819353_47819354insT
GRCh38.p14 chr 6	NC_000006.12:g.47819353_47819354insTAT
GRCh38.p14 chr 6	NC_000006.12:g.47819353_47819354insTATAT
GRCh38.p14 chr 6	NC_000006.12:g.47819353_47819354insTATATAT
GRCh38.p14 chr 6	NC_000006.12:g.47819353_47819354insTATATATAT
GRCh38.p14 chr 6	NC_000006.12:g.47819353_47819354insTATATATATAT
GRCh38.p14 chr 6	NC_000006.12:g.47819353_47819354insTATATATATATAT
GRCh38.p14 chr 6	NC_000006.12:g.47819353_47819354insTATATATATATATAT
GRCh38.p14 chr 6	NC_000006.12:g.47819353_47819354insTATATATATATATATAT
GRCh38.p14 chr 6	NC_000006.12:g.47819353_47819354insTATATATATATATATATAT
GRCh38.p14 chr 6	NC_000006.12:g.47819353_47819354insTATATATATATATATATATATAT
GRCh38.p14 chr 6	NC_000006.12:g.47819353_47819354insTATATATATATATATATATATATAT
GRCh38.p14 chr 6	NC_000006.12:g.47819353_47819354insTATATATATATATATATATATATATAT
GRCh38.p14 chr 6	NC_000006.12:g.47819353_47819354insTATATATATATATATATATATATATATAT
GRCh38.p14 chr 6	NC_000006.12:g.47819353_47819354insTATATATATATATATATATATATATATATAT
GRCh38.p14 chr 6	NC_000006.12:g.47819353_47819354insTATATATATATATATATATATATATATATATAT
GRCh38.p14 chr 6	NC_000006.12:g.47819353_47819354insTATATATATATATATATATATATATATATATATAT
GRCh38.p14 chr 6	NC_000006.12:g.47819353_47819354insTATATATATATATATATATATATATATATATATATAT
GRCh38.p14 chr 6	NC_000006.12:g.47819353_47819354insTGT
GRCh37.p13 chr 6	NC_000006.11:g.47787089_47787090insT
GRCh37.p13 chr 6	NC_000006.11:g.47787089_47787090insTAT
GRCh37.p13 chr 6	NC_000006.11:g.47787089_47787090insTATAT
GRCh37.p13 chr 6	NC_000006.11:g.47787089_47787090insTATATAT
GRCh37.p13 chr 6	NC_000006.11:g.47787089_47787090insTATATATAT
GRCh37.p13 chr 6	NC_000006.11:g.47787089_47787090insTATATATATAT
GRCh37.p13 chr 6	NC_000006.11:g.47787089_47787090insTATATATATATAT
GRCh37.p13 chr 6	NC_000006.11:g.47787089_47787090insTATATATATATATAT
GRCh37.p13 chr 6	NC_000006.11:g.47787089_47787090insTATATATATATATATAT
GRCh37.p13 chr 6	NC_000006.11:g.47787089_47787090insTATATATATATATATATAT
GRCh37.p13 chr 6	NC_000006.11:g.47787089_47787090insTATATATATATATATATATATAT
GRCh37.p13 chr 6	NC_000006.11:g.47787089_47787090insTATATATATATATATATATATATAT
GRCh37.p13 chr 6	NC_000006.11:g.47787089_47787090insTATATATATATATATATATATATATAT
GRCh37.p13 chr 6	NC_000006.11:g.47787089_47787090insTATATATATATATATATATATATATATAT
GRCh37.p13 chr 6	NC_000006.11:g.47787089_47787090insTATATATATATATATATATATATATATATAT
GRCh37.p13 chr 6	NC_000006.11:g.47787089_47787090insTATATATATATATATATATATATATATATATAT
GRCh37.p13 chr 6	NC_000006.11:g.47787089_47787090insTATATATATATATATATATATATATATATATATAT
GRCh37.p13 chr 6	NC_000006.11:g.47787089_47787090insTATATATATATATATATATATATATATATATATATAT
GRCh37.p13 chr 6	NC_000006.11:g.47787089_47787090insTGT

Gene: OPN5, opsin 5 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
OPN5 transcript variant 1	NM_181744.4:c.1057-4630_1… NM_181744.4:c.1057-4630_1057-4629insT	N/A	Intron Variant
OPN5 transcript variant 2	NR_033806.2:n.	N/A	Intron Variant
OPN5 transcript variant X1	XM_017010410.2:c.860+1360… XM_017010410.2:c.860+1360_860+1361insT	N/A	Intron Variant
OPN5 transcript variant X2	XM_017010411.2:c.889-4630… XM_017010411.2:c.889-4630_889-4629insT	N/A	Intron Variant
OPN5 transcript variant X3	XM_017010412.2:c.818+1360… XM_017010412.2:c.818+1360_818+1361insT	N/A	Intron Variant
OPN5 transcript variant X4	XM_017010413.2:c.818+1360… XM_017010413.2:c.818+1360_818+1361insT	N/A	Intron Variant
OPN5 transcript variant X5	XM_017010414.2:c.713+1360… XM_017010414.2:c.713+1360_713+1361insT	N/A	Intron Variant
OPN5 transcript variant X7	XM_017010416.2:c.1187+136… XM_017010416.2:c.1187+1360_1187+1361insT	N/A	Intron Variant
OPN5 transcript variant X6	XM_047418325.1:c.692+1360… XM_047418325.1:c.692+1360_692+1361insT	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)₁₁T	ins(TA)₁₂T	ins(TA)₁₃T	ins(TA)₁₄T	ins(TA)₁₅T	ins(TA)₁₆T	ins(TA)₁₇T	ins(TA)₁₈T	insTGT
GRCh38.p14 chr 6	NC_000006.12:g.47819353_47819354=	NC_000006.12:g.47819353_47819354insT	NC_000006.12:g.47819353_47819354insTAT	NC_000006.12:g.47819353_47819354insTATAT	NC_000006.12:g.47819353_47819354insTATATAT	NC_000006.12:g.47819353_47819354insTATATATAT	NC_000006.12:g.47819353_47819354insTATATATATAT	NC_000006.12:g.47819353_47819354insTATATATATATAT	NC_000006.12:g.47819353_47819354insTATATATATATATAT	NC_000006.12:g.47819353_47819354insTATATATATATATATAT	NC_000006.12:g.47819353_47819354insTATATATATATATATATAT	NC_000006.12:g.47819353_47819354insTATATATATATATATATATATAT	NC_000006.12:g.47819353_47819354insTATATATATATATATATATATATAT	NC_000006.12:g.47819353_47819354insTATATATATATATATATATATATATAT	NC_000006.12:g.47819353_47819354insTATATATATATATATATATATATATATAT	NC_000006.12:g.47819353_47819354insTATATATATATATATATATATATATATATAT	NC_000006.12:g.47819353_47819354insTATATATATATATATATATATATATATATATAT	NC_000006.12:g.47819353_47819354insTATATATATATATATATATATATATATATATATAT	NC_000006.12:g.47819353_47819354insTATATATATATATATATATATATATATATATATATAT	NC_000006.12:g.47819353_47819354insTGT
GRCh37.p13 chr 6	NC_000006.11:g.47787089_47787090=	NC_000006.11:g.47787089_47787090insT	NC_000006.11:g.47787089_47787090insTAT	NC_000006.11:g.47787089_47787090insTATAT	NC_000006.11:g.47787089_47787090insTATATAT	NC_000006.11:g.47787089_47787090insTATATATAT	NC_000006.11:g.47787089_47787090insTATATATATAT	NC_000006.11:g.47787089_47787090insTATATATATATAT	NC_000006.11:g.47787089_47787090insTATATATATATATAT	NC_000006.11:g.47787089_47787090insTATATATATATATATAT	NC_000006.11:g.47787089_47787090insTATATATATATATATATAT	NC_000006.11:g.47787089_47787090insTATATATATATATATATATATAT	NC_000006.11:g.47787089_47787090insTATATATATATATATATATATATAT	NC_000006.11:g.47787089_47787090insTATATATATATATATATATATATATAT	NC_000006.11:g.47787089_47787090insTATATATATATATATATATATATATATAT	NC_000006.11:g.47787089_47787090insTATATATATATATATATATATATATATATAT	NC_000006.11:g.47787089_47787090insTATATATATATATATATATATATATATATATAT	NC_000006.11:g.47787089_47787090insTATATATATATATATATATATATATATATATATAT	NC_000006.11:g.47787089_47787090insTATATATATATATATATATATATATATATATATATAT	NC_000006.11:g.47787089_47787090insTGT
OPN5 transcript variant 1	NM_181744.3:c.1057-4629=	NM_181744.3:c.1057-4630_1057-4629insT	NM_181744.3:c.1057-4630_1057-4629insTAT	NM_181744.3:c.1057-4630_1057-4629insTATAT	NM_181744.3:c.1057-4630_1057-4629insTATATAT	NM_181744.3:c.1057-4630_1057-4629insTATATATAT	NM_181744.3:c.1057-4630_1057-4629insTATATATATAT	NM_181744.3:c.1057-4630_1057-4629insTATATATATATAT	NM_181744.3:c.1057-4630_1057-4629insTATATATATATATAT	NM_181744.3:c.1057-4630_1057-4629insTATATATATATATATAT	NM_181744.3:c.1057-4630_1057-4629insTATATATATATATATATAT	NM_181744.3:c.1057-4630_1057-4629insTATATATATATATATATATATAT	NM_181744.3:c.1057-4630_1057-4629insTATATATATATATATATATATATAT	NM_181744.3:c.1057-4630_1057-4629insTATATATATATATATATATATATATAT	NM_181744.3:c.1057-4630_1057-4629insTATATATATATATATATATATATATATAT	NM_181744.3:c.1057-4630_1057-4629insTATATATATATATATATATATATATATATAT	NM_181744.3:c.1057-4630_1057-4629insTATATATATATATATATATATATATATATATAT	NM_181744.3:c.1057-4630_1057-4629insTATATATATATATATATATATATATATATATATAT	NM_181744.3:c.1057-4630_1057-4629insTATATATATATATATATATATATATATATATATATAT	NM_181744.3:c.1057-4630_1057-4629insTGT
OPN5 transcript variant 1	NM_181744.4:c.1057-4629=	NM_181744.4:c.1057-4630_1057-4629insT	NM_181744.4:c.1057-4630_1057-4629insTAT	NM_181744.4:c.1057-4630_1057-4629insTATAT	NM_181744.4:c.1057-4630_1057-4629insTATATAT	NM_181744.4:c.1057-4630_1057-4629insTATATATAT	NM_181744.4:c.1057-4630_1057-4629insTATATATATAT	NM_181744.4:c.1057-4630_1057-4629insTATATATATATAT	NM_181744.4:c.1057-4630_1057-4629insTATATATATATATAT	NM_181744.4:c.1057-4630_1057-4629insTATATATATATATATAT	NM_181744.4:c.1057-4630_1057-4629insTATATATATATATATATAT	NM_181744.4:c.1057-4630_1057-4629insTATATATATATATATATATATAT	NM_181744.4:c.1057-4630_1057-4629insTATATATATATATATATATATATAT	NM_181744.4:c.1057-4630_1057-4629insTATATATATATATATATATATATATAT	NM_181744.4:c.1057-4630_1057-4629insTATATATATATATATATATATATATATAT	NM_181744.4:c.1057-4630_1057-4629insTATATATATATATATATATATATATATATAT	NM_181744.4:c.1057-4630_1057-4629insTATATATATATATATATATATATATATATATAT	NM_181744.4:c.1057-4630_1057-4629insTATATATATATATATATATATATATATATATATAT	NM_181744.4:c.1057-4630_1057-4629insTATATATATATATATATATATATATATATATATATAT	NM_181744.4:c.1057-4630_1057-4629insTGT
OPN5 transcript variant X1	XM_017010410.2:c.860+1361=	XM_017010410.2:c.860+1360_860+1361insT	XM_017010410.2:c.860+1360_860+1361insTAT	XM_017010410.2:c.860+1360_860+1361insTATAT	XM_017010410.2:c.860+1360_860+1361insTATATAT	XM_017010410.2:c.860+1360_860+1361insTATATATAT	XM_017010410.2:c.860+1360_860+1361insTATATATATAT	XM_017010410.2:c.860+1360_860+1361insTATATATATATAT	XM_017010410.2:c.860+1360_860+1361insTATATATATATATAT	XM_017010410.2:c.860+1360_860+1361insTATATATATATATATAT	XM_017010410.2:c.860+1360_860+1361insTATATATATATATATATAT	XM_017010410.2:c.860+1360_860+1361insTATATATATATATATATATATAT	XM_017010410.2:c.860+1360_860+1361insTATATATATATATATATATATATAT	XM_017010410.2:c.860+1360_860+1361insTATATATATATATATATATATATATAT	XM_017010410.2:c.860+1360_860+1361insTATATATATATATATATATATATATATAT	XM_017010410.2:c.860+1360_860+1361insTATATATATATATATATATATATATATATAT	XM_017010410.2:c.860+1360_860+1361insTATATATATATATATATATATATATATATATAT	XM_017010410.2:c.860+1360_860+1361insTATATATATATATATATATATATATATATATATAT	XM_017010410.2:c.860+1360_860+1361insTATATATATATATATATATATATATATATATATATAT	XM_017010410.2:c.860+1360_860+1361insTGT
OPN5 transcript variant X2	XM_017010411.2:c.889-4629=	XM_017010411.2:c.889-4630_889-4629insT	XM_017010411.2:c.889-4630_889-4629insTAT	XM_017010411.2:c.889-4630_889-4629insTATAT	XM_017010411.2:c.889-4630_889-4629insTATATAT	XM_017010411.2:c.889-4630_889-4629insTATATATAT	XM_017010411.2:c.889-4630_889-4629insTATATATATAT	XM_017010411.2:c.889-4630_889-4629insTATATATATATAT	XM_017010411.2:c.889-4630_889-4629insTATATATATATATAT	XM_017010411.2:c.889-4630_889-4629insTATATATATATATATAT	XM_017010411.2:c.889-4630_889-4629insTATATATATATATATATAT	XM_017010411.2:c.889-4630_889-4629insTATATATATATATATATATATAT	XM_017010411.2:c.889-4630_889-4629insTATATATATATATATATATATATAT	XM_017010411.2:c.889-4630_889-4629insTATATATATATATATATATATATATAT	XM_017010411.2:c.889-4630_889-4629insTATATATATATATATATATATATATATAT	XM_017010411.2:c.889-4630_889-4629insTATATATATATATATATATATATATATATAT	XM_017010411.2:c.889-4630_889-4629insTATATATATATATATATATATATATATATATAT	XM_017010411.2:c.889-4630_889-4629insTATATATATATATATATATATATATATATATATAT	XM_017010411.2:c.889-4630_889-4629insTATATATATATATATATATATATATATATATATATAT	XM_017010411.2:c.889-4630_889-4629insTGT
OPN5 transcript variant X3	XM_017010412.2:c.818+1361=	XM_017010412.2:c.818+1360_818+1361insT	XM_017010412.2:c.818+1360_818+1361insTAT	XM_017010412.2:c.818+1360_818+1361insTATAT	XM_017010412.2:c.818+1360_818+1361insTATATAT	XM_017010412.2:c.818+1360_818+1361insTATATATAT	XM_017010412.2:c.818+1360_818+1361insTATATATATAT	XM_017010412.2:c.818+1360_818+1361insTATATATATATAT	XM_017010412.2:c.818+1360_818+1361insTATATATATATATAT	XM_017010412.2:c.818+1360_818+1361insTATATATATATATATAT	XM_017010412.2:c.818+1360_818+1361insTATATATATATATATATAT	XM_017010412.2:c.818+1360_818+1361insTATATATATATATATATATATAT	XM_017010412.2:c.818+1360_818+1361insTATATATATATATATATATATATAT	XM_017010412.2:c.818+1360_818+1361insTATATATATATATATATATATATATAT	XM_017010412.2:c.818+1360_818+1361insTATATATATATATATATATATATATATAT	XM_017010412.2:c.818+1360_818+1361insTATATATATATATATATATATATATATATAT	XM_017010412.2:c.818+1360_818+1361insTATATATATATATATATATATATATATATATAT	XM_017010412.2:c.818+1360_818+1361insTATATATATATATATATATATATATATATATATAT	XM_017010412.2:c.818+1360_818+1361insTATATATATATATATATATATATATATATATATATAT	XM_017010412.2:c.818+1360_818+1361insTGT
OPN5 transcript variant X4	XM_017010413.2:c.818+1361=	XM_017010413.2:c.818+1360_818+1361insT	XM_017010413.2:c.818+1360_818+1361insTAT	XM_017010413.2:c.818+1360_818+1361insTATAT	XM_017010413.2:c.818+1360_818+1361insTATATAT	XM_017010413.2:c.818+1360_818+1361insTATATATAT	XM_017010413.2:c.818+1360_818+1361insTATATATATAT	XM_017010413.2:c.818+1360_818+1361insTATATATATATAT	XM_017010413.2:c.818+1360_818+1361insTATATATATATATAT	XM_017010413.2:c.818+1360_818+1361insTATATATATATATATAT	XM_017010413.2:c.818+1360_818+1361insTATATATATATATATATAT	XM_017010413.2:c.818+1360_818+1361insTATATATATATATATATATATAT	XM_017010413.2:c.818+1360_818+1361insTATATATATATATATATATATATAT	XM_017010413.2:c.818+1360_818+1361insTATATATATATATATATATATATATAT	XM_017010413.2:c.818+1360_818+1361insTATATATATATATATATATATATATATAT	XM_017010413.2:c.818+1360_818+1361insTATATATATATATATATATATATATATATAT	XM_017010413.2:c.818+1360_818+1361insTATATATATATATATATATATATATATATATAT	XM_017010413.2:c.818+1360_818+1361insTATATATATATATATATATATATATATATATATAT	XM_017010413.2:c.818+1360_818+1361insTATATATATATATATATATATATATATATATATATAT	XM_017010413.2:c.818+1360_818+1361insTGT
OPN5 transcript variant X5	XM_017010414.2:c.713+1361=	XM_017010414.2:c.713+1360_713+1361insT	XM_017010414.2:c.713+1360_713+1361insTAT	XM_017010414.2:c.713+1360_713+1361insTATAT	XM_017010414.2:c.713+1360_713+1361insTATATAT	XM_017010414.2:c.713+1360_713+1361insTATATATAT	XM_017010414.2:c.713+1360_713+1361insTATATATATAT	XM_017010414.2:c.713+1360_713+1361insTATATATATATAT	XM_017010414.2:c.713+1360_713+1361insTATATATATATATAT	XM_017010414.2:c.713+1360_713+1361insTATATATATATATATAT	XM_017010414.2:c.713+1360_713+1361insTATATATATATATATATAT	XM_017010414.2:c.713+1360_713+1361insTATATATATATATATATATATAT	XM_017010414.2:c.713+1360_713+1361insTATATATATATATATATATATATAT	XM_017010414.2:c.713+1360_713+1361insTATATATATATATATATATATATATAT	XM_017010414.2:c.713+1360_713+1361insTATATATATATATATATATATATATATAT	XM_017010414.2:c.713+1360_713+1361insTATATATATATATATATATATATATATATAT	XM_017010414.2:c.713+1360_713+1361insTATATATATATATATATATATATATATATATAT	XM_017010414.2:c.713+1360_713+1361insTATATATATATATATATATATATATATATATATAT	XM_017010414.2:c.713+1360_713+1361insTATATATATATATATATATATATATATATATATATAT	XM_017010414.2:c.713+1360_713+1361insTGT
OPN5 transcript variant X7	XM_017010416.2:c.1187+1361=	XM_017010416.2:c.1187+1360_1187+1361insT	XM_017010416.2:c.1187+1360_1187+1361insTAT	XM_017010416.2:c.1187+1360_1187+1361insTATAT	XM_017010416.2:c.1187+1360_1187+1361insTATATAT	XM_017010416.2:c.1187+1360_1187+1361insTATATATAT	XM_017010416.2:c.1187+1360_1187+1361insTATATATATAT	XM_017010416.2:c.1187+1360_1187+1361insTATATATATATAT	XM_017010416.2:c.1187+1360_1187+1361insTATATATATATATAT	XM_017010416.2:c.1187+1360_1187+1361insTATATATATATATATAT	XM_017010416.2:c.1187+1360_1187+1361insTATATATATATATATATAT	XM_017010416.2:c.1187+1360_1187+1361insTATATATATATATATATATATAT	XM_017010416.2:c.1187+1360_1187+1361insTATATATATATATATATATATATAT	XM_017010416.2:c.1187+1360_1187+1361insTATATATATATATATATATATATATAT	XM_017010416.2:c.1187+1360_1187+1361insTATATATATATATATATATATATATATAT	XM_017010416.2:c.1187+1360_1187+1361insTATATATATATATATATATATATATATATAT	XM_017010416.2:c.1187+1360_1187+1361insTATATATATATATATATATATATATATATATAT	XM_017010416.2:c.1187+1360_1187+1361insTATATATATATATATATATATATATATATATATAT	XM_017010416.2:c.1187+1360_1187+1361insTATATATATATATATATATATATATATATATATATAT	XM_017010416.2:c.1187+1360_1187+1361insTGT
OPN5 transcript variant X6	XM_047418325.1:c.692+1361=	XM_047418325.1:c.692+1360_692+1361insT	XM_047418325.1:c.692+1360_692+1361insTAT	XM_047418325.1:c.692+1360_692+1361insTATAT	XM_047418325.1:c.692+1360_692+1361insTATATAT	XM_047418325.1:c.692+1360_692+1361insTATATATAT	XM_047418325.1:c.692+1360_692+1361insTATATATATAT	XM_047418325.1:c.692+1360_692+1361insTATATATATATAT	XM_047418325.1:c.692+1360_692+1361insTATATATATATATAT	XM_047418325.1:c.692+1360_692+1361insTATATATATATATATAT	XM_047418325.1:c.692+1360_692+1361insTATATATATATATATATAT	XM_047418325.1:c.692+1360_692+1361insTATATATATATATATATATATAT	XM_047418325.1:c.692+1360_692+1361insTATATATATATATATATATATATAT	XM_047418325.1:c.692+1360_692+1361insTATATATATATATATATATATATATAT	XM_047418325.1:c.692+1360_692+1361insTATATATATATATATATATATATATATAT	XM_047418325.1:c.692+1360_692+1361insTATATATATATATATATATATATATATATAT	XM_047418325.1:c.692+1360_692+1361insTATATATATATATATATATATATATATATATAT	XM_047418325.1:c.692+1360_692+1361insTATATATATATATATATATATATATATATATATAT	XM_047418325.1:c.692+1360_692+1361insTATATATATATATATATATATATATATATATATATAT	XM_047418325.1:c.692+1360_692+1361insTGT

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#.

33 SubSNP, 23 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	MCHAISSO	ss3064204043	Jan 10, 2018 (151)
2	MCHAISSO	ss3065082921	Jan 10, 2018 (151)
3	MCHAISSO	ss3066079992	Jan 10, 2018 (151)
4	PACBIO	ss3785467753	Jul 13, 2019 (153)
5	EVA	ss3829911350	Apr 26, 2020 (154)
6	GNOMAD	ss4141319855	Apr 26, 2021 (155)
7	GNOMAD	ss4141319856	Apr 26, 2021 (155)
8	GNOMAD	ss4141319857	Apr 26, 2021 (155)
9	GNOMAD	ss4141319858	Apr 26, 2021 (155)
10	GNOMAD	ss4141319859	Apr 26, 2021 (155)
11	GNOMAD	ss4141319860	Apr 26, 2021 (155)
12	GNOMAD	ss4141319861	Apr 26, 2021 (155)
13	GNOMAD	ss4141319862	Apr 26, 2021 (155)
14	GNOMAD	ss4141319863	Apr 26, 2021 (155)
15	GNOMAD	ss4141319864	Apr 26, 2021 (155)
16	GNOMAD	ss4141319865	Apr 26, 2021 (155)
17	GNOMAD	ss4141319866	Apr 26, 2021 (155)
18	GNOMAD	ss4141319867	Apr 26, 2021 (155)
19	GNOMAD	ss4141319868	Apr 26, 2021 (155)
20	GNOMAD	ss4141319869	Apr 26, 2021 (155)
21	TOMMO_GENOMICS	ss5177397600	Apr 26, 2021 (155)
22	TOMMO_GENOMICS	ss5177397601	Apr 26, 2021 (155)
23	TOMMO_GENOMICS	ss5177397602	Apr 26, 2021 (155)
24	1000G_HIGH_COVERAGE	ss5268362227	Oct 13, 2022 (156)
25	HUGCELL_USP	ss5466043637	Oct 13, 2022 (156)
26	HUGCELL_USP	ss5466043638	Oct 13, 2022 (156)
27	SANFORD_IMAGENETICS	ss5640352200	Oct 13, 2022 (156)
28	TOMMO_GENOMICS	ss5715413574	Oct 13, 2022 (156)
29	TOMMO_GENOMICS	ss5715413575	Oct 13, 2022 (156)
30	TOMMO_GENOMICS	ss5715413576	Oct 13, 2022 (156)
31	TOMMO_GENOMICS	ss5715413577	Oct 13, 2022 (156)
32	YY_MCH	ss5807447208	Oct 13, 2022 (156)
33	EVA	ss5855348320	Oct 13, 2022 (156)
34	gnomAD - Genomes Submission ignored due to conflicting rows: Row 224496126 (NC_000006.12:47819353::TATAT 1/79532) Row 224496127 (NC_000006.12:47819353::TATATAT 4/79520) Row 224496128 (NC_000006.12:47819353::TATATATAT 2/79524)...	-	Apr 26, 2021 (155)
35	gnomAD - Genomes Submission ignored due to conflicting rows: Row 224496126 (NC_000006.12:47819353::TATAT 1/79532) Row 224496127 (NC_000006.12:47819353::TATATAT 4/79520) Row 224496128 (NC_000006.12:47819353::TATATATAT 2/79524)...	-	Apr 26, 2021 (155)
36	gnomAD - Genomes Submission ignored due to conflicting rows: Row 224496126 (NC_000006.12:47819353::TATAT 1/79532) Row 224496127 (NC_000006.12:47819353::TATATAT 4/79520) Row 224496128 (NC_000006.12:47819353::TATATATAT 2/79524)...	-	Apr 26, 2021 (155)
37	gnomAD - Genomes Submission ignored due to conflicting rows: Row 224496126 (NC_000006.12:47819353::TATAT 1/79532) Row 224496127 (NC_000006.12:47819353::TATATAT 4/79520) Row 224496128 (NC_000006.12:47819353::TATATATAT 2/79524)...	-	Apr 26, 2021 (155)
38	gnomAD - Genomes Submission ignored due to conflicting rows: Row 224496126 (NC_000006.12:47819353::TATAT 1/79532) Row 224496127 (NC_000006.12:47819353::TATATAT 4/79520) Row 224496128 (NC_000006.12:47819353::TATATATAT 2/79524)...	-	Apr 26, 2021 (155)
39	gnomAD - Genomes Submission ignored due to conflicting rows: Row 224496126 (NC_000006.12:47819353::TATAT 1/79532) Row 224496127 (NC_000006.12:47819353::TATATAT 4/79520) Row 224496128 (NC_000006.12:47819353::TATATATAT 2/79524)...	-	Apr 26, 2021 (155)
40	gnomAD - Genomes Submission ignored due to conflicting rows: Row 224496126 (NC_000006.12:47819353::TATAT 1/79532) Row 224496127 (NC_000006.12:47819353::TATATAT 4/79520) Row 224496128 (NC_000006.12:47819353::TATATATAT 2/79524)...	-	Apr 26, 2021 (155)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 224496126 (NC_000006.12:47819353::TATAT 1/79532) Row 224496127 (NC_000006.12:47819353::TATATAT 4/79520) Row 224496128 (NC_000006.12:47819353::TATATATAT 2/79524)...	-	Apr 26, 2021 (155)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 224496126 (NC_000006.12:47819353::TATAT 1/79532) Row 224496127 (NC_000006.12:47819353::TATATAT 4/79520) Row 224496128 (NC_000006.12:47819353::TATATATAT 2/79524)...	-	Apr 26, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 224496126 (NC_000006.12:47819353::TATAT 1/79532) Row 224496127 (NC_000006.12:47819353::TATATAT 4/79520) Row 224496128 (NC_000006.12:47819353::TATATATAT 2/79524)...	-	Apr 26, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 224496126 (NC_000006.12:47819353::TATAT 1/79532) Row 224496127 (NC_000006.12:47819353::TATATAT 4/79520) Row 224496128 (NC_000006.12:47819353::TATATATAT 2/79524)...	-	Apr 26, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 224496126 (NC_000006.12:47819353::TATAT 1/79532) Row 224496127 (NC_000006.12:47819353::TATATAT 4/79520) Row 224496128 (NC_000006.12:47819353::TATATATAT 2/79524)...	-	Apr 26, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 224496126 (NC_000006.12:47819353::TATAT 1/79532) Row 224496127 (NC_000006.12:47819353::TATATAT 4/79520) Row 224496128 (NC_000006.12:47819353::TATATATAT 2/79524)...	-	Apr 26, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 224496126 (NC_000006.12:47819353::TATAT 1/79532) Row 224496127 (NC_000006.12:47819353::TATATAT 4/79520) Row 224496128 (NC_000006.12:47819353::TATATATAT 2/79524)...	-	Apr 26, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 224496126 (NC_000006.12:47819353::TATAT 1/79532) Row 224496127 (NC_000006.12:47819353::TATATAT 4/79520) Row 224496128 (NC_000006.12:47819353::TATATATAT 2/79524)...	-	Apr 26, 2021 (155)
49	8.3KJPN Submission ignored due to conflicting rows: Row 35366907 (NC_000006.11:47787089::T 12277/16628) Row 35366908 (NC_000006.11:47787089::TATATATATATATATATATATATATATATATAT 8/16628) Row 35366909 (NC_000006.11:47787089::TATATATATATATATATATATATATATATATATAT 6/16628)	-	Apr 26, 2021 (155)
50	8.3KJPN Submission ignored due to conflicting rows: Row 35366907 (NC_000006.11:47787089::T 12277/16628) Row 35366908 (NC_000006.11:47787089::TATATATATATATATATATATATATATATATAT 8/16628) Row 35366909 (NC_000006.11:47787089::TATATATATATATATATATATATATATATATATAT 6/16628)	-	Apr 26, 2021 (155)
51	8.3KJPN Submission ignored due to conflicting rows: Row 35366907 (NC_000006.11:47787089::T 12277/16628) Row 35366908 (NC_000006.11:47787089::TATATATATATATATATATATATATATATATAT 8/16628) Row 35366909 (NC_000006.11:47787089::TATATATATATATATATATATATATATATATATAT 6/16628)	-	Apr 26, 2021 (155)
52	14KJPN Submission ignored due to conflicting rows: Row 49250678 (NC_000006.12:47819353::T 21051/28120) Row 49250679 (NC_000006.12:47819353::TATATATATATATATATATATATATATATAT 7/28120) Row 49250680 (NC_000006.12:47819353::TATATATATATATATATATATATATATATATAT 8/28120)...	-	Oct 13, 2022 (156)
53	14KJPN Submission ignored due to conflicting rows: Row 49250678 (NC_000006.12:47819353::T 21051/28120) Row 49250679 (NC_000006.12:47819353::TATATATATATATATATATATATATATATAT 7/28120) Row 49250680 (NC_000006.12:47819353::TATATATATATATATATATATATATATATATAT 8/28120)...	-	Oct 13, 2022 (156)
54	14KJPN Submission ignored due to conflicting rows: Row 49250678 (NC_000006.12:47819353::T 21051/28120) Row 49250679 (NC_000006.12:47819353::TATATATATATATATATATATATATATATAT 7/28120) Row 49250680 (NC_000006.12:47819353::TATATATATATATATATATATATATATATATAT 8/28120)...	-	Oct 13, 2022 (156)
55	14KJPN Submission ignored due to conflicting rows: Row 49250678 (NC_000006.12:47819353::T 21051/28120) Row 49250679 (NC_000006.12:47819353::TATATATATATATATATATATATATATATAT 7/28120) Row 49250680 (NC_000006.12:47819353::TATATATATATATATATATATATATATATATAT 8/28120)...	-	Oct 13, 2022 (156)
56	ALFA	NC_000006.12 - 47819354	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 rs1491208722

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
ss3785467753, ss3829911350, ss5177397600, ss5640352200	NC_000006.11:47787089::T	NC_000006.12:47819353::T	(self)
9953351991, ss3064204043, ss3065082921, ss3066079992, ss5466043637, ss5715413574, ss5807447208, ss5855348320	NC_000006.12:47819353::T	NC_000006.12:47819353::T	(self)
9953351991	NC_000006.12:47819353::TAT	NC_000006.12:47819353::TAT	(self)
ss4141319855	NC_000006.12:47819353::TATAT	NC_000006.12:47819353::TATAT	(self)
9953351991, ss4141319856, ss5466043638	NC_000006.12:47819353::TATATAT	NC_000006.12:47819353::TATATAT	(self)
9953351991, ss4141319857	NC_000006.12:47819353::TATATATAT	NC_000006.12:47819353::TATATATAT	(self)
ss4141319858	NC_000006.12:47819353::TATATATATAT	NC_000006.12:47819353::TATATATATAT	(self)
9953351991, ss4141319859	NC_000006.12:47819353::TATATATATAT… NC_000006.12:47819353::TATATATATATAT	NC_000006.12:47819353::TATATATATAT… NC_000006.12:47819353::TATATATATATAT	(self)
ss4141319860	NC_000006.12:47819353::TATATATATAT… NC_000006.12:47819353::TATATATATATATAT	NC_000006.12:47819353::TATATATATAT… NC_000006.12:47819353::TATATATATATATAT	(self)
ss4141319861	NC_000006.12:47819353::TATATATATAT… NC_000006.12:47819353::TATATATATATATATAT	NC_000006.12:47819353::TATATATATAT… NC_000006.12:47819353::TATATATATATATATAT	(self)
ss4141319862	NC_000006.12:47819353::TATATATATAT… NC_000006.12:47819353::TATATATATATATATATAT	NC_000006.12:47819353::TATATATATAT… NC_000006.12:47819353::TATATATATATATATATAT	(self)
ss4141319863	NC_000006.12:47819353::TATATATATAT… NC_000006.12:47819353::TATATATATATATATATATATAT	NC_000006.12:47819353::TATATATATAT… NC_000006.12:47819353::TATATATATATATATATATATAT	(self)
ss4141319864	NC_000006.12:47819353::TATATATATAT… NC_000006.12:47819353::TATATATATATATATATATATATAT	NC_000006.12:47819353::TATATATATAT… NC_000006.12:47819353::TATATATATATATATATATATATAT	(self)
ss4141319865	NC_000006.12:47819353::TATATATATAT… NC_000006.12:47819353::TATATATATATATATATATATATATAT	NC_000006.12:47819353::TATATATATAT… NC_000006.12:47819353::TATATATATATATATATATATATATAT	(self)
ss4141319866	NC_000006.12:47819353::TATATATATAT… NC_000006.12:47819353::TATATATATATATATATATATATATATAT	NC_000006.12:47819353::TATATATATAT… NC_000006.12:47819353::TATATATATATATATATATATATATATAT	(self)
ss5268362227, ss5715413575	NC_000006.12:47819353::TATATATATAT… NC_000006.12:47819353::TATATATATATATATATATATATATATATAT	NC_000006.12:47819353::TATATATATAT… NC_000006.12:47819353::TATATATATATATATATATATATATATATAT
ss5177397601	NC_000006.11:47787089::TATATATATAT… NC_000006.11:47787089::TATATATATATATATATATATATATATATATAT	NC_000006.12:47819353::TATATATATAT… NC_000006.12:47819353::TATATATATATATATATATATATATATATATAT	(self)
ss4141319867, ss5715413576	NC_000006.12:47819353::TATATATATAT… NC_000006.12:47819353::TATATATATATATATATATATATATATATATAT	NC_000006.12:47819353::TATATATATAT… NC_000006.12:47819353::TATATATATATATATATATATATATATATATAT	(self)
ss5177397602	NC_000006.11:47787089::TATATATATAT… NC_000006.11:47787089::TATATATATATATATATATATATATATATATATAT	NC_000006.12:47819353::TATATATATAT… NC_000006.12:47819353::TATATATATATATATATATATATATATATATATAT	(self)
ss4141319868, ss5715413577	NC_000006.12:47819353::TATATATATAT… NC_000006.12:47819353::TATATATATATATATATATATATATATATATATATAT	NC_000006.12:47819353::TATATATATAT… NC_000006.12:47819353::TATATATATATATATATATATATATATATATATATAT	(self)
ss4141319869	NC_000006.12:47819353::TGT	NC_000006.12:47819353::TGT	(self)

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1491208722