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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs1491180591

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr14:23562364 (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
dupT
Variation Type
Indel Insertion and Deletion
Frequency
dupT=0.000008 (2/264690, TOPMED)
dupT=0.000012 (3/251466, GnomAD_exome)
dupT=0.00004 (1/26066, ALFA) (+ 1 more)
dupT=0.00008 (1/12518, GO-ESP)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
AP1G2 : Frameshift Variant
AP1G2-AS1 : Intron Variant
Publications
0 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 26066 T=0.99996 TT=0.00004 0.999923 0.0 7.7e-05 0
European Sub 19172 T=1.00000 TT=0.00000 1.0 0.0 0.0 N/A
African Sub 2888 T=1.0000 TT=0.0000 1.0 0.0 0.0 N/A
African Others Sub 92 T=1.00 TT=0.00 1.0 0.0 0.0 N/A
African American Sub 2796 T=1.0000 TT=0.0000 1.0 0.0 0.0 N/A
Asian Sub 164 T=1.000 TT=0.000 1.0 0.0 0.0 N/A
East Asian Sub 110 T=1.000 TT=0.000 1.0 0.0 0.0 N/A
Other Asian Sub 54 T=1.00 TT=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 T=1.000 TT=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 T=1.000 TT=0.000 1.0 0.0 0.0 N/A
South Asian Sub 94 T=1.00 TT=0.00 1.0 0.0 0.0 N/A
Other Sub 2992 T=0.9997 TT=0.0003 0.999332 0.0 0.000668 0


Help

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

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 -

No frequency provided

 dupT=0.000008
gnomAD - Exomes Global Study-wide 251466 -

No frequency provided

 dupT=0.000012
gnomAD - Exomes European Sub 135404 -

No frequency provided

 dupT=0.000000
gnomAD - Exomes Asian Sub 49010 -

No frequency provided

 dupT=0.00000
gnomAD - Exomes American Sub 34584 -

No frequency provided

 dupT=0.00000
gnomAD - Exomes African Sub 16256 -

No frequency provided

 dupT=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10072 -

No frequency provided

 dupT=0.00020
gnomAD - Exomes Other Sub 6140 -

No frequency provided

 dupT=0.0002
Allele Frequency Aggregator Total Global 26066 T=0.99996 dupT=0.00004
Allele Frequency Aggregator European Sub 19172 T=1.00000 dupT=0.00000
Allele Frequency Aggregator Other Sub 2992 T=0.9997 dupT=0.0003
Allele Frequency Aggregator African Sub 2888 T=1.0000 dupT=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 T=1.000 dupT=0.000
Allele Frequency Aggregator Asian Sub 164 T=1.000 dupT=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 T=1.000 dupT=0.000
Allele Frequency Aggregator South Asian Sub 94 T=1.00 dupT=0.00
GO Exome Sequencing Project Global Study-wide 12518 -

No frequency provided

 dupT=0.00008
GO Exome Sequencing Project European American Sub 8254 -

No frequency provided

 dupT=0.0001
GO Exome Sequencing Project African American Sub 4264 -

No frequency provided

 dupT=0.0000
Help

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 14 NC_000014.9:g.23562364dup
GRCh37.p13 chr 14 NC_000014.8:g.24031573dup
AP1G2 RefSeqGene NG_011937.1:g.10707dup
Gene: AP1G2, adaptor related protein complex 1 subunit gamma 2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
AP1G2 transcript variant 1 NM_003917.5:c.1552dup M [ATG] > N [AATG] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform 1 NP_003908.1:p.Met518fs M (Met) > N (Asn) Frameshift Variant
AP1G2 transcript variant 3 NM_001282474.2:c.409dup M [ATG] > N [AATG] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform 2 NP_001269403.1:p.Met137fs M (Met) > N (Asn) Frameshift Variant
AP1G2 transcript variant 7 NM_001354675.2:c.409dup M [ATG] > N [AATG] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform 2 NP_001341604.1:p.Met137fs M (Met) > N (Asn) Frameshift Variant
AP1G2 transcript variant 5 NM_001354673.2:c.1165dup M [ATG] > N [AATG] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform 4 NP_001341602.1:p.Met389fs M (Met) > N (Asn) Frameshift Variant
AP1G2 transcript variant 10 NM_001354681.2:c.409dup M [ATG] > N [AATG] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform 2 NP_001341610.1:p.Met137fs M (Met) > N (Asn) Frameshift Variant
AP1G2 transcript variant 8 NM_001354677.2:c.409dup M [ATG] > N [AATG] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform 2 NP_001341606.1:p.Met137fs M (Met) > N (Asn) Frameshift Variant
AP1G2 transcript variant 6 NM_001354674.2:c.409dup M [ATG] > N [AATG] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform 2 NP_001341603.1:p.Met137fs M (Met) > N (Asn) Frameshift Variant
AP1G2 transcript variant 4 NM_001282475.2:c.1336dup M [ATG] > N [AATG] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform 3 NP_001269404.1:p.Met446fs M (Met) > N (Asn) Frameshift Variant
AP1G2 transcript variant 11 NR_148938.2:n.1867dup N/A Non Coding Transcript Variant
AP1G2 transcript variant 9 NR_148937.2:n.2341dup N/A Non Coding Transcript Variant
AP1G2 transcript variant X22 XM_047431862.1:c. N/A Genic Downstream Transcript Variant
AP1G2 transcript variant X24 XM_047431864.1:c. N/A Genic Downstream Transcript Variant
AP1G2 transcript variant X25 XM_047431865.1:c. N/A Genic Downstream Transcript Variant
AP1G2 transcript variant X27 XM_047431867.1:c. N/A Genic Downstream Transcript Variant
AP1G2 transcript variant X28 XM_047431868.1:c. N/A Genic Downstream Transcript Variant
AP1G2 transcript variant X29 XM_047431869.1:c. N/A Genic Downstream Transcript Variant
AP1G2 transcript variant X30 XM_047431870.1:c. N/A Genic Downstream Transcript Variant
AP1G2 transcript variant X1 XM_047431849.1:c.1825dup M [ATG] > N [AATG] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X1 XP_047287805.1:p.Met609fs M (Met) > N (Asn) Frameshift Variant
AP1G2 transcript variant X2 XM_005268167.4:c.1723dup M [ATG] > N [AATG] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X2 XP_005268224.1:p.Met575fs M (Met) > N (Asn) Frameshift Variant
AP1G2 transcript variant X3 XM_005268168.6:c.1723dup M [ATG] > N [AATG] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X2 XP_005268225.1:p.Met575fs M (Met) > N (Asn) Frameshift Variant
AP1G2 transcript variant X4 XM_005268170.4:c.1723dup M [ATG] > N [AATG] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X2 XP_005268227.1:p.Met575fs M (Met) > N (Asn) Frameshift Variant
AP1G2 transcript variant X5 XM_005268169.4:c.1723dup M [ATG] > N [AATG] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X2 XP_005268226.1:p.Met575fs M (Met) > N (Asn) Frameshift Variant
AP1G2 transcript variant X6 XM_006720301.4:c.1723dup M [ATG] > N [AATG] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X2 XP_006720364.1:p.Met575fs M (Met) > N (Asn) Frameshift Variant
AP1G2 transcript variant X7 XM_011537283.4:c.1825dup M [ATG] > N [AATG] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X3 XP_011535585.2:p.Met609fs M (Met) > N (Asn) Frameshift Variant
AP1G2 transcript variant X8 XM_047431850.1:c.1654dup M [ATG] > N [AATG] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X4 XP_047287806.1:p.Met552fs M (Met) > N (Asn) Frameshift Variant
AP1G2 transcript variant X9 XM_047431851.1:c.1723dup M [ATG] > N [AATG] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X5 XP_047287807.1:p.Met575fs M (Met) > N (Asn) Frameshift Variant
AP1G2 transcript variant X10 XM_047431852.1:c.1723dup M [ATG] > N [AATG] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X5 XP_047287808.1:p.Met575fs M (Met) > N (Asn) Frameshift Variant
AP1G2 transcript variant X11 XM_047431853.1:c.1723dup M [ATG] > N [AATG] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X5 XP_047287809.1:p.Met575fs M (Met) > N (Asn) Frameshift Variant
AP1G2 transcript variant X12 XM_047431854.1:c.1552dup M [ATG] > N [AATG] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X6 XP_047287810.1:p.Met518fs M (Met) > N (Asn) Frameshift Variant
AP1G2 transcript variant X13 XM_047431855.1:c.1552dup M [ATG] > N [AATG] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X6 XP_047287811.1:p.Met518fs M (Met) > N (Asn) Frameshift Variant
AP1G2 transcript variant X14 XM_005268173.4:c.1552dup M [ATG] > N [AATG] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X6 XP_005268230.1:p.Met518fs M (Met) > N (Asn) Frameshift Variant
AP1G2 transcript variant X15 XM_005268172.4:c.1552dup M [ATG] > N [AATG] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X6 XP_005268229.1:p.Met518fs M (Met) > N (Asn) Frameshift Variant
AP1G2 transcript variant X16 XM_047431856.1:c.1654dup M [ATG] > N [AATG] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X7 XP_047287812.1:p.Met552fs M (Met) > N (Asn) Frameshift Variant
AP1G2 transcript variant X17 XM_047431857.1:c.1552dup M [ATG] > N [AATG] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X8 XP_047287813.1:p.Met518fs M (Met) > N (Asn) Frameshift Variant
AP1G2 transcript variant X18 XM_047431858.1:c.1552dup M [ATG] > N [AATG] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X8 XP_047287814.1:p.Met518fs M (Met) > N (Asn) Frameshift Variant
AP1G2 transcript variant X19 XM_047431859.1:c.1552dup M [ATG] > N [AATG] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X8 XP_047287815.1:p.Met518fs M (Met) > N (Asn) Frameshift Variant
AP1G2 transcript variant X20 XM_047431860.1:c.1825dup M [ATG] > N [AATG] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X9 XP_047287816.1:p.Met609fs M (Met) > N (Asn) Frameshift Variant
AP1G2 transcript variant X21 XM_047431861.1:c.1825dup M [ATG] > N [AATG] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X10 XP_047287817.1:p.Met609fs M (Met) > N (Asn) Frameshift Variant
AP1G2 transcript variant X23 XM_047431863.1:c.922dup M [ATG] > N [AATG] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X12 XP_047287819.1:p.Met308fs M (Met) > N (Asn) Frameshift Variant
AP1G2 transcript variant X26 XM_047431866.1:c.1582dup M [ATG] > N [AATG] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X15 XP_047287822.1:p.Met528fs M (Met) > N (Asn) Frameshift Variant
Gene: AP1G2-AS1, AP1G2 antisense RNA 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
AP1G2-AS1 transcript NR_110555.1:n. N/A Intron Variant
Help

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
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement T= dupT
GRCh38.p14 chr 14 NC_000014.9:g.23562364= NC_000014.9:g.23562364dup
GRCh37.p13 chr 14 NC_000014.8:g.24031573= NC_000014.8:g.24031573dup
AP1G2 RefSeqGene NG_011937.1:g.10707= NG_011937.1:g.10707dup
AP1G2 transcript variant 1 NM_003917.5:c.1552= NM_003917.5:c.1552dup
AP1G2 transcript variant 1 NM_003917.4:c.1552= NM_003917.4:c.1552dup
AP1G2 transcript NM_003917.3:c.1552= NM_003917.3:c.1552dup
AP1G2 transcript NM_003917.2:c.1552= NM_003917.2:c.1552dup
AP1G2 transcript variant 9 NR_148937.2:n.2341= NR_148937.2:n.2341dup
AP1G2 transcript variant 9 NR_148937.1:n.2063= NR_148937.1:n.2063dup
AP1G2 transcript variant 8 NM_001354677.2:c.409= NM_001354677.2:c.409dup
AP1G2 transcript variant 8 NM_001354677.1:c.409= NM_001354677.1:c.409dup
AP1G2 transcript variant 10 NM_001354681.2:c.409= NM_001354681.2:c.409dup
AP1G2 transcript variant 10 NM_001354681.1:c.409= NM_001354681.1:c.409dup
AP1G2 transcript variant 11 NR_148938.2:n.1867= NR_148938.2:n.1867dup
AP1G2 transcript variant 11 NR_148938.1:n.1864= NR_148938.1:n.1864dup
AP1G2 transcript variant 4 NM_001282475.2:c.1336= NM_001282475.2:c.1336dup
AP1G2 transcript variant 4 NM_001282475.1:c.1336= NM_001282475.1:c.1336dup
AP1G2 transcript variant 3 NM_001282474.2:c.409= NM_001282474.2:c.409dup
AP1G2 transcript variant 3 NM_001282474.1:c.409= NM_001282474.1:c.409dup
AP1G2 transcript variant 6 NM_001354674.2:c.409= NM_001354674.2:c.409dup
AP1G2 transcript variant 6 NM_001354674.1:c.409= NM_001354674.1:c.409dup
AP1G2 transcript variant 7 NM_001354675.2:c.409= NM_001354675.2:c.409dup
AP1G2 transcript variant 7 NM_001354675.1:c.409= NM_001354675.1:c.409dup
AP1G2 transcript variant 5 NM_001354673.2:c.1165= NM_001354673.2:c.1165dup
AP1G2 transcript variant 5 NM_001354673.1:c.1165= NM_001354673.1:c.1165dup
AP1G2 transcript variant X3 XM_005268168.6:c.1723= XM_005268168.6:c.1723dup
AP1G2 transcript variant X2 XM_005268168.5:c.1723= XM_005268168.5:c.1723dup
AP1G2 transcript variant X2 XM_005268168.4:c.1723= XM_005268168.4:c.1723dup
AP1G2 transcript variant X3 XM_005268168.3:c.1723= XM_005268168.3:c.1723dup
AP1G2 transcript variant X3 XM_005268168.2:c.1723= XM_005268168.2:c.1723dup
AP1G2 transcript variant X3 XM_005268168.1:c.1723= XM_005268168.1:c.1723dup
AP1G2 transcript variant X5 XM_005268169.4:c.1723= XM_005268169.4:c.1723dup
AP1G2 transcript variant X5 XM_005268169.3:c.1723= XM_005268169.3:c.1723dup
AP1G2 transcript variant X5 XM_005268169.2:c.1723= XM_005268169.2:c.1723dup
AP1G2 transcript variant X4 XM_005268169.1:c.1723= XM_005268169.1:c.1723dup
AP1G2 transcript variant X7 XM_011537283.4:c.1825= XM_011537283.4:c.1825dup
AP1G2 transcript variant X6 XM_011537283.3:c.1723= XM_011537283.3:c.1723dup
AP1G2 transcript variant X6 XM_011537283.2:c.1723= XM_011537283.2:c.1723dup
AP1G2 transcript variant X7 XM_011537283.1:c.1723= XM_011537283.1:c.1723dup
AP1G2 transcript variant X6 XM_006720301.4:c.1723= XM_006720301.4:c.1723dup
AP1G2 transcript variant X3 XM_006720301.3:c.1723= XM_006720301.3:c.1723dup
AP1G2 transcript variant X6 XM_006720301.2:c.1723= XM_006720301.2:c.1723dup
AP1G2 transcript variant X21 XM_006720301.1:c.1723= XM_006720301.1:c.1723dup
AP1G2 transcript variant X15 XM_005268172.4:c.1552= XM_005268172.4:c.1552dup
AP1G2 transcript variant X10 XM_005268172.3:c.1552= XM_005268172.3:c.1552dup
AP1G2 transcript variant X9 XM_005268172.2:c.1552= XM_005268172.2:c.1552dup
AP1G2 transcript variant X7 XM_005268172.1:c.1552= XM_005268172.1:c.1552dup
AP1G2 transcript variant X2 XM_005268167.4:c.1723= XM_005268167.4:c.1723dup
AP1G2 transcript variant X1 XM_005268167.3:c.1723= XM_005268167.3:c.1723dup
AP1G2 transcript variant X1 XM_005268167.2:c.1723= XM_005268167.2:c.1723dup
AP1G2 transcript variant X2 XM_005268167.1:c.1723= XM_005268167.1:c.1723dup
AP1G2 transcript variant X4 XM_005268170.4:c.1723= XM_005268170.4:c.1723dup
AP1G2 transcript variant X4 XM_005268170.3:c.1723= XM_005268170.3:c.1723dup
AP1G2 transcript variant X4 XM_005268170.2:c.1723= XM_005268170.2:c.1723dup
AP1G2 transcript variant X5 XM_005268170.1:c.1723= XM_005268170.1:c.1723dup
AP1G2 transcript variant X14 XM_005268173.4:c.1552= XM_005268173.4:c.1552dup
AP1G2 transcript variant X9 XM_005268173.3:c.1552= XM_005268173.3:c.1552dup
AP1G2 transcript variant X8 XM_005268173.2:c.1552= XM_005268173.2:c.1552dup
AP1G2 transcript variant X8 XM_005268173.1:c.1552= XM_005268173.1:c.1552dup
AP1G2 transcript variant 2 NM_080545.1:c.1552= NM_080545.1:c.1552dup
AP1G2 transcript variant X1 XM_047431849.1:c.1825= XM_047431849.1:c.1825dup
AP1G2 transcript variant X12 XM_047431854.1:c.1552= XM_047431854.1:c.1552dup
AP1G2 transcript variant X11 XM_047431853.1:c.1723= XM_047431853.1:c.1723dup
AP1G2 transcript variant X8 XM_047431850.1:c.1654= XM_047431850.1:c.1654dup
AP1G2 transcript variant X10 XM_047431852.1:c.1723= XM_047431852.1:c.1723dup
AP1G2 transcript variant X16 XM_047431856.1:c.1654= XM_047431856.1:c.1654dup
AP1G2 transcript variant X13 XM_047431855.1:c.1552= XM_047431855.1:c.1552dup
AP1G2 transcript variant X9 XM_047431851.1:c.1723= XM_047431851.1:c.1723dup
AP1G2 transcript variant X18 XM_047431858.1:c.1552= XM_047431858.1:c.1552dup
AP1G2 transcript variant X26 XM_047431866.1:c.1582= XM_047431866.1:c.1582dup
AP1G2 transcript variant X17 XM_047431857.1:c.1552= XM_047431857.1:c.1552dup
AP1G2 transcript variant X19 XM_047431859.1:c.1552= XM_047431859.1:c.1552dup
AP1G2 transcript variant X20 XM_047431860.1:c.1825= XM_047431860.1:c.1825dup
AP1G2 transcript variant X21 XM_047431861.1:c.1825= XM_047431861.1:c.1825dup
AP1G2 transcript variant X23 XM_047431863.1:c.922= XM_047431863.1:c.922dup
AP-1 complex subunit gamma-like 2 isoform 1 NP_003908.1:p.Met518= NP_003908.1:p.Met518fs
AP-1 complex subunit gamma-like 2 isoform 2 NP_001341606.1:p.Met137= NP_001341606.1:p.Met137fs
AP-1 complex subunit gamma-like 2 isoform 2 NP_001341610.1:p.Met137= NP_001341610.1:p.Met137fs
AP-1 complex subunit gamma-like 2 isoform 3 NP_001269404.1:p.Met446= NP_001269404.1:p.Met446fs
AP-1 complex subunit gamma-like 2 isoform 2 NP_001269403.1:p.Met137= NP_001269403.1:p.Met137fs
AP-1 complex subunit gamma-like 2 isoform 2 NP_001341603.1:p.Met137= NP_001341603.1:p.Met137fs
AP-1 complex subunit gamma-like 2 isoform 2 NP_001341604.1:p.Met137= NP_001341604.1:p.Met137fs
AP-1 complex subunit gamma-like 2 isoform 4 NP_001341602.1:p.Met389= NP_001341602.1:p.Met389fs
AP-1 complex subunit gamma-like 2 isoform X2 XP_005268225.1:p.Met575= XP_005268225.1:p.Met575fs
AP-1 complex subunit gamma-like 2 isoform X2 XP_005268226.1:p.Met575= XP_005268226.1:p.Met575fs
AP-1 complex subunit gamma-like 2 isoform X3 XP_011535585.2:p.Met609= XP_011535585.2:p.Met609fs
AP-1 complex subunit gamma-like 2 isoform X2 XP_006720364.1:p.Met575= XP_006720364.1:p.Met575fs
AP-1 complex subunit gamma-like 2 isoform X6 XP_005268229.1:p.Met518= XP_005268229.1:p.Met518fs
AP-1 complex subunit gamma-like 2 isoform X2 XP_005268224.1:p.Met575= XP_005268224.1:p.Met575fs
AP-1 complex subunit gamma-like 2 isoform X2 XP_005268227.1:p.Met575= XP_005268227.1:p.Met575fs
AP-1 complex subunit gamma-like 2 isoform X6 XP_005268230.1:p.Met518= XP_005268230.1:p.Met518fs
AP-1 complex subunit gamma-like 2 isoform X1 XP_047287805.1:p.Met609= XP_047287805.1:p.Met609fs
AP-1 complex subunit gamma-like 2 isoform X6 XP_047287810.1:p.Met518= XP_047287810.1:p.Met518fs
AP-1 complex subunit gamma-like 2 isoform X5 XP_047287809.1:p.Met575= XP_047287809.1:p.Met575fs
AP-1 complex subunit gamma-like 2 isoform X4 XP_047287806.1:p.Met552= XP_047287806.1:p.Met552fs
AP-1 complex subunit gamma-like 2 isoform X5 XP_047287808.1:p.Met575= XP_047287808.1:p.Met575fs
AP-1 complex subunit gamma-like 2 isoform X7 XP_047287812.1:p.Met552= XP_047287812.1:p.Met552fs
AP-1 complex subunit gamma-like 2 isoform X6 XP_047287811.1:p.Met518= XP_047287811.1:p.Met518fs
AP-1 complex subunit gamma-like 2 isoform X5 XP_047287807.1:p.Met575= XP_047287807.1:p.Met575fs
AP-1 complex subunit gamma-like 2 isoform X8 XP_047287814.1:p.Met518= XP_047287814.1:p.Met518fs
AP-1 complex subunit gamma-like 2 isoform X15 XP_047287822.1:p.Met528= XP_047287822.1:p.Met528fs
AP-1 complex subunit gamma-like 2 isoform X8 XP_047287813.1:p.Met518= XP_047287813.1:p.Met518fs
AP-1 complex subunit gamma-like 2 isoform X8 XP_047287815.1:p.Met518= XP_047287815.1:p.Met518fs
AP-1 complex subunit gamma-like 2 isoform X9 XP_047287816.1:p.Met609= XP_047287816.1:p.Met609fs
AP-1 complex subunit gamma-like 2 isoform X10 XP_047287817.1:p.Met609= XP_047287817.1:p.Met609fs
AP-1 complex subunit gamma-like 2 isoform X12 XP_047287819.1:p.Met308= XP_047287819.1:p.Met308fs
Help

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#.

4 SubSNP, 4 Frequency submissions
No Submitter Submission ID Date (Build)
1 AFFY ss2985015938 Jan 10, 2018 (151)
2 ILLUMINA ss3653787124 Oct 12, 2018 (152)
3 EVA ss3824836982 Apr 27, 2020 (154)
4 TOPMED ss4963595647 Apr 26, 2021 (155)
5 gnomAD - Exomes NC_000014.8 - 24031573 Jul 13, 2019 (153)
6 GO Exome Sequencing Project NC_000014.8 - 24031573 Oct 12, 2018 (152)
7 TopMed NC_000014.9 - 23562364 Apr 26, 2021 (155)
8 ALFA NC_000014.9 - 23562364 Apr 26, 2021 (155)
Help

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
9863096, 1294326, ss2985015938, ss3653787124, ss3824836982 NC_000014.8:24031572::T NC_000014.9:23562363:T:TT (self)
179141306, ss4963595647 NC_000014.9:23562363::T NC_000014.9:23562363:T:TT (self)
7513051929 NC_000014.9:23562363:T:TT NC_000014.9:23562363:T:TT (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1491180591

Help

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).
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.

Software version is: 2.0.1.post820+afb47a3d