Name: rs1491462085
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.

rs1491462085

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr22:24238915-24238916 (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: insA / insAA / insAATA / insAA(TA)…
insA / insAA / insAATA / insAA(TA)₃TT(ATATA)₂TATA / insATA / insATAA / insATATTA / insATTA / ins(GT)₃G
Variation Type: Insertion
Frequency: insA=0.00000 (0/10672, ALFA)
insAA=0.00000 (0/10672, ALFA)
insAATA=0.00000 (0/10672, ALFA) (+ 5 more)
insATA=0.00000 (0/10672, ALFA)
insATAA=0.00000 (0/10672, ALFA)
insATATTA=0.00000 (0/10672, ALFA)
insATTA=0.00000 (0/10672, ALFA)
ins(GT)₃G=0.00000 (0/10672, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: GGT5 : 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	10672	=1.00000	A=0.00000, AA=0.00000, AATA=0.00000, ATA=0.00000, ATAA=0.00000, ATATTA=0.00000, ATTA=0.00000, GTGTGTG=0.00000	1.0	N/A
European	Sub	6992	=1.0000	A=0.0000, AA=0.0000, AATA=0.0000, ATA=0.0000, ATAA=0.0000, ATATTA=0.0000, ATTA=0.0000, GTGTGTG=0.0000	1.0	N/A
African	Sub	2506	=1.0000	A=0.0000, AA=0.0000, AATA=0.0000, ATA=0.0000, ATAA=0.0000, ATATTA=0.0000, ATTA=0.0000, GTGTGTG=0.0000	1.0	N/A
African Others	Sub	94	=1.00	A=0.00, AA=0.00, AATA=0.00, ATA=0.00, ATAA=0.00, ATATTA=0.00, ATTA=0.00, GTGTGTG=0.00	1.0	N/A
African American	Sub	2412	=1.0000	A=0.0000, AA=0.0000, AATA=0.0000, ATA=0.0000, ATAA=0.0000, ATATTA=0.0000, ATTA=0.0000, GTGTGTG=0.0000	1.0	N/A
Asian	Sub	98	=1.00	A=0.00, AA=0.00, AATA=0.00, ATA=0.00, ATAA=0.00, ATATTA=0.00, ATTA=0.00, GTGTGTG=0.00	1.0	N/A
East Asian	Sub	76	=1.00	A=0.00, AA=0.00, AATA=0.00, ATA=0.00, ATAA=0.00, ATATTA=0.00, ATTA=0.00, GTGTGTG=0.00	1.0	N/A
Other Asian	Sub	22	=1.00	A=0.00, AA=0.00, AATA=0.00, ATA=0.00, ATAA=0.00, ATATTA=0.00, ATTA=0.00, GTGTGTG=0.00	1.0	N/A
Latin American 1	Sub	128	=1.000	A=0.000, AA=0.000, AATA=0.000, ATA=0.000, ATAA=0.000, ATATTA=0.000, ATTA=0.000, GTGTGTG=0.000	1.0	N/A
Latin American 2	Sub	452	=1.000	A=0.000, AA=0.000, AATA=0.000, ATA=0.000, ATAA=0.000, ATATTA=0.000, ATTA=0.000, GTGTGTG=0.000	1.0	N/A
South Asian	Sub	74	=1.00	A=0.00, AA=0.00, AATA=0.00, ATA=0.00, ATAA=0.00, ATATTA=0.00, ATTA=0.00, GTGTGTG=0.00	1.0	N/A
Other	Sub	422	=1.000	A=0.000, AA=0.000, AATA=0.000, ATA=0.000, ATAA=0.000, ATATTA=0.000, ATTA=0.000, GTGTGTG=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	10672	- No frequency provided	insA=0.00000, insAA=0.00000, insAATA=0.00000, insATA=0.00000, insATAA=0.00000, insATATTA=0.00000, insATTA=0.00000, ins(GT)₃G=0.00000
Allele Frequency Aggregator	European	Sub	6992	- No frequency provided	insA=0.0000, insAA=0.0000, insAATA=0.0000, insATA=0.0000, insATAA=0.0000, insATATTA=0.0000, insATTA=0.0000, ins(GT)₃G=0.0000
Allele Frequency Aggregator	African	Sub	2506	- No frequency provided	insA=0.0000, insAA=0.0000, insAATA=0.0000, insATA=0.0000, insATAA=0.0000, insATATTA=0.0000, insATTA=0.0000, ins(GT)₃G=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	452	- No frequency provided	insA=0.000, insAA=0.000, insAATA=0.000, insATA=0.000, insATAA=0.000, insATATTA=0.000, insATTA=0.000, ins(GT)₃G=0.000
Allele Frequency Aggregator	Other	Sub	422	- No frequency provided	insA=0.000, insAA=0.000, insAATA=0.000, insATA=0.000, insATAA=0.000, insATATTA=0.000, insATTA=0.000, ins(GT)₃G=0.000
Allele Frequency Aggregator	Latin American 1	Sub	128	- No frequency provided	insA=0.000, insAA=0.000, insAATA=0.000, insATA=0.000, insATAA=0.000, insATATTA=0.000, insATTA=0.000, ins(GT)₃G=0.000
Allele Frequency Aggregator	Asian	Sub	98	- No frequency provided	insA=0.00, insAA=0.00, insAATA=0.00, insATA=0.00, insATAA=0.00, insATATTA=0.00, insATTA=0.00, ins(GT)₃G=0.00
Allele Frequency Aggregator	South Asian	Sub	74	- No frequency provided	insA=0.00, insAA=0.00, insAATA=0.00, insATA=0.00, insATAA=0.00, insATATTA=0.00, insATTA=0.00, ins(GT)₃G=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 22	NC_000022.11:g.24238915_24238916insA
GRCh38.p14 chr 22	NC_000022.11:g.24238915_24238916insAA
GRCh38.p14 chr 22	NC_000022.11:g.24238915_24238916insAATA
GRCh38.p14 chr 22	NC_000022.11:g.24238915_24238916insAATATATATTATATAATATATATA
GRCh38.p14 chr 22	NC_000022.11:g.24238915_24238916insATA
GRCh38.p14 chr 22	NC_000022.11:g.24238915_24238916insATAA
GRCh38.p14 chr 22	NC_000022.11:g.24238915_24238916insATATTA
GRCh38.p14 chr 22	NC_000022.11:g.24238915_24238916insATTA
GRCh38.p14 chr 22	NC_000022.11:g.24238915_24238916insGTGTGTG
GRCh37.p13 chr 22	NC_000022.10:g.24634883_24634884insA
GRCh37.p13 chr 22	NC_000022.10:g.24634883_24634884insAA
GRCh37.p13 chr 22	NC_000022.10:g.24634883_24634884insAATA
GRCh37.p13 chr 22	NC_000022.10:g.24634883_24634884insAATATATATTATATAATATATATA
GRCh37.p13 chr 22	NC_000022.10:g.24634883_24634884insATA
GRCh37.p13 chr 22	NC_000022.10:g.24634883_24634884insATAA
GRCh37.p13 chr 22	NC_000022.10:g.24634883_24634884insATATTA
GRCh37.p13 chr 22	NC_000022.10:g.24634883_24634884insATTA
GRCh37.p13 chr 22	NC_000022.10:g.24634883_24634884insGTGTGTG

Gene: GGT5, gamma-glutamyltransferase 5 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
GGT5 transcript variant 1	NM_001099781.2:c.174-4912… NM_001099781.2:c.174-4912_174-4911insT	N/A	Intron Variant
GGT5 transcript variant 3	NM_001099782.2:c.174-4912… NM_001099782.2:c.174-4912_174-4911insT	N/A	Intron Variant
GGT5 transcript variant 4	NM_001302464.1:c.174-4912… NM_001302464.1:c.174-4912_174-4911insT	N/A	Intron Variant
GGT5 transcript variant 5	NM_001302465.1:c.173+5637… NM_001302465.1:c.173+5637_173+5638insT	N/A	Intron Variant
GGT5 transcript variant 2	NM_004121.5:c.174-4912_17… NM_004121.5:c.174-4912_174-4911insT	N/A	Intron Variant
GGT5 transcript variant X2	XM_005261557.4:c.174-4912… XM_005261557.4:c.174-4912_174-4911insT	N/A	Intron Variant
GGT5 transcript variant X3	XM_005261558.4:c.174-4912… XM_005261558.4:c.174-4912_174-4911insT	N/A	Intron Variant
GGT5 transcript variant X1	XM_011530133.3:c.174-4912… XM_011530133.3:c.174-4912_174-4911insT	N/A	Intron Variant
GGT5 transcript variant X4	XM_011530134.3:c.174-4912… XM_011530134.3:c.174-4912_174-4911insT	N/A	Intron Variant
GGT5 transcript variant X5	XM_011530135.3:c.174-4912… XM_011530135.3:c.174-4912_174-4911insT	N/A	Intron Variant
GGT5 transcript variant X8	XM_011530136.3:c.174-4912… XM_011530136.3:c.174-4912_174-4911insT	N/A	Intron Variant
GGT5 transcript variant X11	XM_011530137.4:c.174-4912… XM_011530137.4:c.174-4912_174-4911insT	N/A	Intron Variant
GGT5 transcript variant X6	XM_017028768.3:c.174-4912… XM_017028768.3:c.174-4912_174-4911insT	N/A	Intron Variant
GGT5 transcript variant X10	XM_017028769.3:c.174-4912… XM_017028769.3:c.174-4912_174-4911insT	N/A	Intron Variant
GGT5 transcript variant X7	XM_047441328.1:c.174-4912… XM_047441328.1:c.174-4912_174-4911insT	N/A	Intron Variant
GGT5 transcript variant X9	XM_047441329.1:c.174-4912… XM_047441329.1:c.174-4912_174-4911insT	N/A	Intron Variant
GGT5 transcript variant X12	XM_047441330.1:c.174-4912… XM_047441330.1:c.174-4912_174-4911insT	N/A	Intron Variant
GGT5 transcript variant X13	XM_047441331.1:c.174-4912… XM_047441331.1:c.174-4912_174-4911insT	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	=	insA	insAA	insAATA	insAA(TA)₃TT(ATATA)₂TATA	insATA	insATAA	insATATTA	insATTA	ins(GT)₃G
GRCh38.p14 chr 22	NC_000022.11:g.24238915_24238916=	NC_000022.11:g.24238915_24238916insA	NC_000022.11:g.24238915_24238916insAA	NC_000022.11:g.24238915_24238916insAATA	NC_000022.11:g.24238915_24238916insAATATATATTATATAATATATATA	NC_000022.11:g.24238915_24238916insATA	NC_000022.11:g.24238915_24238916insATAA	NC_000022.11:g.24238915_24238916insATATTA	NC_000022.11:g.24238915_24238916insATTA	NC_000022.11:g.24238915_24238916insGTGTGTG
GRCh37.p13 chr 22	NC_000022.10:g.24634883_24634884=	NC_000022.10:g.24634883_24634884insA	NC_000022.10:g.24634883_24634884insAA	NC_000022.10:g.24634883_24634884insAATA	NC_000022.10:g.24634883_24634884insAATATATATTATATAATATATATA	NC_000022.10:g.24634883_24634884insATA	NC_000022.10:g.24634883_24634884insATAA	NC_000022.10:g.24634883_24634884insATATTA	NC_000022.10:g.24634883_24634884insATTA	NC_000022.10:g.24634883_24634884insGTGTGTG
GGT5 transcript variant 1	NM_001099781.1:c.174-4912=	NM_001099781.1:c.174-4912_174-4911insT	NM_001099781.1:c.174-4912_174-4911insTT	NM_001099781.1:c.174-4912_174-4911insTATT	NM_001099781.1:c.174-4912_174-4911insTATATATATTATATAATATATATT	NM_001099781.1:c.174-4912_174-4911insTAT	NM_001099781.1:c.174-4912_174-4911insTTAT	NM_001099781.1:c.174-4912_174-4911insTAATAT	NM_001099781.1:c.174-4912_174-4911insTAAT	NM_001099781.1:c.174-4912_174-4911insCACACAC
GGT5 transcript variant 1	NM_001099781.2:c.174-4912=	NM_001099781.2:c.174-4912_174-4911insT	NM_001099781.2:c.174-4912_174-4911insTT	NM_001099781.2:c.174-4912_174-4911insTATT	NM_001099781.2:c.174-4912_174-4911insTATATATATTATATAATATATATT	NM_001099781.2:c.174-4912_174-4911insTAT	NM_001099781.2:c.174-4912_174-4911insTTAT	NM_001099781.2:c.174-4912_174-4911insTAATAT	NM_001099781.2:c.174-4912_174-4911insTAAT	NM_001099781.2:c.174-4912_174-4911insCACACAC
GGT5 transcript variant 3	NM_001099782.1:c.174-4912=	NM_001099782.1:c.174-4912_174-4911insT	NM_001099782.1:c.174-4912_174-4911insTT	NM_001099782.1:c.174-4912_174-4911insTATT	NM_001099782.1:c.174-4912_174-4911insTATATATATTATATAATATATATT	NM_001099782.1:c.174-4912_174-4911insTAT	NM_001099782.1:c.174-4912_174-4911insTTAT	NM_001099782.1:c.174-4912_174-4911insTAATAT	NM_001099782.1:c.174-4912_174-4911insTAAT	NM_001099782.1:c.174-4912_174-4911insCACACAC
GGT5 transcript variant 3	NM_001099782.2:c.174-4912=	NM_001099782.2:c.174-4912_174-4911insT	NM_001099782.2:c.174-4912_174-4911insTT	NM_001099782.2:c.174-4912_174-4911insTATT	NM_001099782.2:c.174-4912_174-4911insTATATATATTATATAATATATATT	NM_001099782.2:c.174-4912_174-4911insTAT	NM_001099782.2:c.174-4912_174-4911insTTAT	NM_001099782.2:c.174-4912_174-4911insTAATAT	NM_001099782.2:c.174-4912_174-4911insTAAT	NM_001099782.2:c.174-4912_174-4911insCACACAC
GGT5 transcript variant 4	NM_001302464.1:c.174-4912=	NM_001302464.1:c.174-4912_174-4911insT	NM_001302464.1:c.174-4912_174-4911insTT	NM_001302464.1:c.174-4912_174-4911insTATT	NM_001302464.1:c.174-4912_174-4911insTATATATATTATATAATATATATT	NM_001302464.1:c.174-4912_174-4911insTAT	NM_001302464.1:c.174-4912_174-4911insTTAT	NM_001302464.1:c.174-4912_174-4911insTAATAT	NM_001302464.1:c.174-4912_174-4911insTAAT	NM_001302464.1:c.174-4912_174-4911insCACACAC
GGT5 transcript variant 5	NM_001302465.1:c.173+5637=	NM_001302465.1:c.173+5637_173+5638insT	NM_001302465.1:c.173+5637_173+5638insTT	NM_001302465.1:c.173+5637_173+5638insTATT	NM_001302465.1:c.173+5637_173+5638insTATATATATTATATAATATATATT	NM_001302465.1:c.173+5637_173+5638insTAT	NM_001302465.1:c.173+5637_173+5638insTTAT	NM_001302465.1:c.173+5637_173+5638insTAATAT	NM_001302465.1:c.173+5637_173+5638insTAAT	NM_001302465.1:c.173+5637_173+5638insCACACAC
GGT5 transcript variant 2	NM_004121.2:c.174-4912=	NM_004121.2:c.174-4912_174-4911insT	NM_004121.2:c.174-4912_174-4911insTT	NM_004121.2:c.174-4912_174-4911insTATT	NM_004121.2:c.174-4912_174-4911insTATATATATTATATAATATATATT	NM_004121.2:c.174-4912_174-4911insTAT	NM_004121.2:c.174-4912_174-4911insTTAT	NM_004121.2:c.174-4912_174-4911insTAATAT	NM_004121.2:c.174-4912_174-4911insTAAT	NM_004121.2:c.174-4912_174-4911insCACACAC
GGT5 transcript variant 2	NM_004121.5:c.174-4912=	NM_004121.5:c.174-4912_174-4911insT	NM_004121.5:c.174-4912_174-4911insTT	NM_004121.5:c.174-4912_174-4911insTATT	NM_004121.5:c.174-4912_174-4911insTATATATATTATATAATATATATT	NM_004121.5:c.174-4912_174-4911insTAT	NM_004121.5:c.174-4912_174-4911insTTAT	NM_004121.5:c.174-4912_174-4911insTAATAT	NM_004121.5:c.174-4912_174-4911insTAAT	NM_004121.5:c.174-4912_174-4911insCACACAC
GGT5 transcript variant X1	XM_005261557.1:c.174-4912=	XM_005261557.1:c.174-4912_174-4911insT	XM_005261557.1:c.174-4912_174-4911insTT	XM_005261557.1:c.174-4912_174-4911insTATT	XM_005261557.1:c.174-4912_174-4911insTATATATATTATATAATATATATT	XM_005261557.1:c.174-4912_174-4911insTAT	XM_005261557.1:c.174-4912_174-4911insTTAT	XM_005261557.1:c.174-4912_174-4911insTAATAT	XM_005261557.1:c.174-4912_174-4911insTAAT	XM_005261557.1:c.174-4912_174-4911insCACACAC
GGT5 transcript variant X2	XM_005261557.4:c.174-4912=	XM_005261557.4:c.174-4912_174-4911insT	XM_005261557.4:c.174-4912_174-4911insTT	XM_005261557.4:c.174-4912_174-4911insTATT	XM_005261557.4:c.174-4912_174-4911insTATATATATTATATAATATATATT	XM_005261557.4:c.174-4912_174-4911insTAT	XM_005261557.4:c.174-4912_174-4911insTTAT	XM_005261557.4:c.174-4912_174-4911insTAATAT	XM_005261557.4:c.174-4912_174-4911insTAAT	XM_005261557.4:c.174-4912_174-4911insCACACAC
GGT5 transcript variant X2	XM_005261558.1:c.174-4912=	XM_005261558.1:c.174-4912_174-4911insT	XM_005261558.1:c.174-4912_174-4911insTT	XM_005261558.1:c.174-4912_174-4911insTATT	XM_005261558.1:c.174-4912_174-4911insTATATATATTATATAATATATATT	XM_005261558.1:c.174-4912_174-4911insTAT	XM_005261558.1:c.174-4912_174-4911insTTAT	XM_005261558.1:c.174-4912_174-4911insTAATAT	XM_005261558.1:c.174-4912_174-4911insTAAT	XM_005261558.1:c.174-4912_174-4911insCACACAC
GGT5 transcript variant X3	XM_005261558.4:c.174-4912=	XM_005261558.4:c.174-4912_174-4911insT	XM_005261558.4:c.174-4912_174-4911insTT	XM_005261558.4:c.174-4912_174-4911insTATT	XM_005261558.4:c.174-4912_174-4911insTATATATATTATATAATATATATT	XM_005261558.4:c.174-4912_174-4911insTAT	XM_005261558.4:c.174-4912_174-4911insTTAT	XM_005261558.4:c.174-4912_174-4911insTAATAT	XM_005261558.4:c.174-4912_174-4911insTAAT	XM_005261558.4:c.174-4912_174-4911insCACACAC
GGT5 transcript variant X3	XM_005261559.1:c.174-4912=	XM_005261559.1:c.174-4912_174-4911insT	XM_005261559.1:c.174-4912_174-4911insTT	XM_005261559.1:c.174-4912_174-4911insTATT	XM_005261559.1:c.174-4912_174-4911insTATATATATTATATAATATATATT	XM_005261559.1:c.174-4912_174-4911insTAT	XM_005261559.1:c.174-4912_174-4911insTTAT	XM_005261559.1:c.174-4912_174-4911insTAATAT	XM_005261559.1:c.174-4912_174-4911insTAAT	XM_005261559.1:c.174-4912_174-4911insCACACAC
GGT5 transcript variant X4	XM_005261560.1:c.174-4912=	XM_005261560.1:c.174-4912_174-4911insT	XM_005261560.1:c.174-4912_174-4911insTT	XM_005261560.1:c.174-4912_174-4911insTATT	XM_005261560.1:c.174-4912_174-4911insTATATATATTATATAATATATATT	XM_005261560.1:c.174-4912_174-4911insTAT	XM_005261560.1:c.174-4912_174-4911insTTAT	XM_005261560.1:c.174-4912_174-4911insTAATAT	XM_005261560.1:c.174-4912_174-4911insTAAT	XM_005261560.1:c.174-4912_174-4911insCACACAC
GGT5 transcript variant X5	XM_005261561.1:c.173+5637=	XM_005261561.1:c.173+5637_173+5638insT	XM_005261561.1:c.173+5637_173+5638insTT	XM_005261561.1:c.173+5637_173+5638insTATT	XM_005261561.1:c.173+5637_173+5638insTATATATATTATATAATATATATT	XM_005261561.1:c.173+5637_173+5638insTAT	XM_005261561.1:c.173+5637_173+5638insTTAT	XM_005261561.1:c.173+5637_173+5638insTAATAT	XM_005261561.1:c.173+5637_173+5638insTAAT	XM_005261561.1:c.173+5637_173+5638insCACACAC
GGT5 transcript variant X1	XM_011530133.3:c.174-4912=	XM_011530133.3:c.174-4912_174-4911insT	XM_011530133.3:c.174-4912_174-4911insTT	XM_011530133.3:c.174-4912_174-4911insTATT	XM_011530133.3:c.174-4912_174-4911insTATATATATTATATAATATATATT	XM_011530133.3:c.174-4912_174-4911insTAT	XM_011530133.3:c.174-4912_174-4911insTTAT	XM_011530133.3:c.174-4912_174-4911insTAATAT	XM_011530133.3:c.174-4912_174-4911insTAAT	XM_011530133.3:c.174-4912_174-4911insCACACAC
GGT5 transcript variant X4	XM_011530134.3:c.174-4912=	XM_011530134.3:c.174-4912_174-4911insT	XM_011530134.3:c.174-4912_174-4911insTT	XM_011530134.3:c.174-4912_174-4911insTATT	XM_011530134.3:c.174-4912_174-4911insTATATATATTATATAATATATATT	XM_011530134.3:c.174-4912_174-4911insTAT	XM_011530134.3:c.174-4912_174-4911insTTAT	XM_011530134.3:c.174-4912_174-4911insTAATAT	XM_011530134.3:c.174-4912_174-4911insTAAT	XM_011530134.3:c.174-4912_174-4911insCACACAC
GGT5 transcript variant X5	XM_011530135.3:c.174-4912=	XM_011530135.3:c.174-4912_174-4911insT	XM_011530135.3:c.174-4912_174-4911insTT	XM_011530135.3:c.174-4912_174-4911insTATT	XM_011530135.3:c.174-4912_174-4911insTATATATATTATATAATATATATT	XM_011530135.3:c.174-4912_174-4911insTAT	XM_011530135.3:c.174-4912_174-4911insTTAT	XM_011530135.3:c.174-4912_174-4911insTAATAT	XM_011530135.3:c.174-4912_174-4911insTAAT	XM_011530135.3:c.174-4912_174-4911insCACACAC
GGT5 transcript variant X8	XM_011530136.3:c.174-4912=	XM_011530136.3:c.174-4912_174-4911insT	XM_011530136.3:c.174-4912_174-4911insTT	XM_011530136.3:c.174-4912_174-4911insTATT	XM_011530136.3:c.174-4912_174-4911insTATATATATTATATAATATATATT	XM_011530136.3:c.174-4912_174-4911insTAT	XM_011530136.3:c.174-4912_174-4911insTTAT	XM_011530136.3:c.174-4912_174-4911insTAATAT	XM_011530136.3:c.174-4912_174-4911insTAAT	XM_011530136.3:c.174-4912_174-4911insCACACAC
GGT5 transcript variant X11	XM_011530137.4:c.174-4912=	XM_011530137.4:c.174-4912_174-4911insT	XM_011530137.4:c.174-4912_174-4911insTT	XM_011530137.4:c.174-4912_174-4911insTATT	XM_011530137.4:c.174-4912_174-4911insTATATATATTATATAATATATATT	XM_011530137.4:c.174-4912_174-4911insTAT	XM_011530137.4:c.174-4912_174-4911insTTAT	XM_011530137.4:c.174-4912_174-4911insTAATAT	XM_011530137.4:c.174-4912_174-4911insTAAT	XM_011530137.4:c.174-4912_174-4911insCACACAC
GGT5 transcript variant X6	XM_017028768.3:c.174-4912=	XM_017028768.3:c.174-4912_174-4911insT	XM_017028768.3:c.174-4912_174-4911insTT	XM_017028768.3:c.174-4912_174-4911insTATT	XM_017028768.3:c.174-4912_174-4911insTATATATATTATATAATATATATT	XM_017028768.3:c.174-4912_174-4911insTAT	XM_017028768.3:c.174-4912_174-4911insTTAT	XM_017028768.3:c.174-4912_174-4911insTAATAT	XM_017028768.3:c.174-4912_174-4911insTAAT	XM_017028768.3:c.174-4912_174-4911insCACACAC
GGT5 transcript variant X10	XM_017028769.3:c.174-4912=	XM_017028769.3:c.174-4912_174-4911insT	XM_017028769.3:c.174-4912_174-4911insTT	XM_017028769.3:c.174-4912_174-4911insTATT	XM_017028769.3:c.174-4912_174-4911insTATATATATTATATAATATATATT	XM_017028769.3:c.174-4912_174-4911insTAT	XM_017028769.3:c.174-4912_174-4911insTTAT	XM_017028769.3:c.174-4912_174-4911insTAATAT	XM_017028769.3:c.174-4912_174-4911insTAAT	XM_017028769.3:c.174-4912_174-4911insCACACAC
GGT5 transcript variant X7	XM_047441328.1:c.174-4912=	XM_047441328.1:c.174-4912_174-4911insT	XM_047441328.1:c.174-4912_174-4911insTT	XM_047441328.1:c.174-4912_174-4911insTATT	XM_047441328.1:c.174-4912_174-4911insTATATATATTATATAATATATATT	XM_047441328.1:c.174-4912_174-4911insTAT	XM_047441328.1:c.174-4912_174-4911insTTAT	XM_047441328.1:c.174-4912_174-4911insTAATAT	XM_047441328.1:c.174-4912_174-4911insTAAT	XM_047441328.1:c.174-4912_174-4911insCACACAC
GGT5 transcript variant X9	XM_047441329.1:c.174-4912=	XM_047441329.1:c.174-4912_174-4911insT	XM_047441329.1:c.174-4912_174-4911insTT	XM_047441329.1:c.174-4912_174-4911insTATT	XM_047441329.1:c.174-4912_174-4911insTATATATATTATATAATATATATT	XM_047441329.1:c.174-4912_174-4911insTAT	XM_047441329.1:c.174-4912_174-4911insTTAT	XM_047441329.1:c.174-4912_174-4911insTAATAT	XM_047441329.1:c.174-4912_174-4911insTAAT	XM_047441329.1:c.174-4912_174-4911insCACACAC
GGT5 transcript variant X12	XM_047441330.1:c.174-4912=	XM_047441330.1:c.174-4912_174-4911insT	XM_047441330.1:c.174-4912_174-4911insTT	XM_047441330.1:c.174-4912_174-4911insTATT	XM_047441330.1:c.174-4912_174-4911insTATATATATTATATAATATATATT	XM_047441330.1:c.174-4912_174-4911insTAT	XM_047441330.1:c.174-4912_174-4911insTTAT	XM_047441330.1:c.174-4912_174-4911insTAATAT	XM_047441330.1:c.174-4912_174-4911insTAAT	XM_047441330.1:c.174-4912_174-4911insCACACAC
GGT5 transcript variant X13	XM_047441331.1:c.174-4912=	XM_047441331.1:c.174-4912_174-4911insT	XM_047441331.1:c.174-4912_174-4911insTT	XM_047441331.1:c.174-4912_174-4911insTATT	XM_047441331.1:c.174-4912_174-4911insTATATATATTATATAATATATATT	XM_047441331.1:c.174-4912_174-4911insTAT	XM_047441331.1:c.174-4912_174-4911insTTAT	XM_047441331.1:c.174-4912_174-4911insTAATAT	XM_047441331.1:c.174-4912_174-4911insTAAT	XM_047441331.1:c.174-4912_174-4911insCACACAC

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#.

8 SubSNP, 5 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	EVA_DECODE	ss3708018390	Jul 13, 2019 (153)
2	EVA_DECODE	ss3708018391	Jul 13, 2019 (153)
3	EVA_DECODE	ss3708018392	Jul 13, 2019 (153)
4	EVA_DECODE	ss3708018393	Jul 13, 2019 (153)
5	GNOMAD	ss4363090196	Apr 26, 2021 (155)
6	GNOMAD	ss4363090197	Apr 26, 2021 (155)
7	GNOMAD	ss4363090198	Apr 26, 2021 (155)
8	GNOMAD	ss4363090199	Apr 26, 2021 (155)
9	gnomAD - Genomes Submission ignored due to conflicting rows: Row 567445423 (NC_000022.11:24238915::AA 79/13846) Row 567445424 (NC_000022.11:24238915::AATATATATTATATAATATATATA 2/13854) Row 567445425 (NC_000022.11:24238915::ATAA 1/13854)...	-	Apr 26, 2021 (155)
10	gnomAD - Genomes Submission ignored due to conflicting rows: Row 567445423 (NC_000022.11:24238915::AA 79/13846) Row 567445424 (NC_000022.11:24238915::AATATATATTATATAATATATATA 2/13854) Row 567445425 (NC_000022.11:24238915::ATAA 1/13854)...	-	Apr 26, 2021 (155)
11	gnomAD - Genomes Submission ignored due to conflicting rows: Row 567445423 (NC_000022.11:24238915::AA 79/13846) Row 567445424 (NC_000022.11:24238915::AATATATATTATATAATATATATA 2/13854) Row 567445425 (NC_000022.11:24238915::ATAA 1/13854)...	-	Apr 26, 2021 (155)
12	gnomAD - Genomes Submission ignored due to conflicting rows: Row 567445423 (NC_000022.11:24238915::AA 79/13846) Row 567445424 (NC_000022.11:24238915::AATATATATTATATAATATATATA 2/13854) Row 567445425 (NC_000022.11:24238915::ATAA 1/13854)...	-	Apr 26, 2021 (155)
13	ALFA	NC_000022.11 - 24238916	Apr 26, 2021 (155)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
12493912056, ss3708018391	NC_000022.11:24238915::A	NC_000022.11:24238915::A	(self)
12493912056, ss3708018390, ss4363090196	NC_000022.11:24238915::AA	NC_000022.11:24238915::AA	(self)
12493912056	NC_000022.11:24238915::AATA	NC_000022.11:24238915::AATA	(self)
ss4363090197	NC_000022.11:24238915::AATATATATTA… NC_000022.11:24238915::AATATATATTATATAATATATATA	NC_000022.11:24238915::AATATATATTA… NC_000022.11:24238915::AATATATATTATATAATATATATA	(self)
12493912056	NC_000022.11:24238915::ATA	NC_000022.11:24238915::ATA	(self)
12493912056, ss3708018392, ss4363090198	NC_000022.11:24238915::ATAA	NC_000022.11:24238915::ATAA	(self)
12493912056	NC_000022.11:24238915::ATATTA	NC_000022.11:24238915::ATATTA	(self)
12493912056, ss3708018393, ss4363090199	NC_000022.11:24238915::ATTA	NC_000022.11:24238915::ATTA	(self)
12493912056	NC_000022.11:24238915::GTGTGTG	NC_000022.11:24238915::GTGTGTG	(self)

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

No publications for rs1491462085

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

Select flank length:

Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1491462085