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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.

rs1472168448

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr16:28825796 (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
A>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.000004 (1/264690, TOPMED)
C=0.000007 (1/140224, GnomAD)
C=0.00000 (0/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ATXN2L : Missense Variant
LOC124903672 : 2KB Upstream 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 14050 A=1.00000 C=0.00000 1.0 0.0 0.0 N/A
European Sub 9690 A=1.0000 C=0.0000 1.0 0.0 0.0 N/A
African Sub 2898 A=1.0000 C=0.0000 1.0 0.0 0.0 N/A
African Others Sub 114 A=1.000 C=0.000 1.0 0.0 0.0 N/A
African American Sub 2784 A=1.0000 C=0.0000 1.0 0.0 0.0 N/A
Asian Sub 112 A=1.000 C=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 A=1.00 C=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 A=1.00 C=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 A=1.000 C=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 A=1.000 C=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 A=1.00 C=0.00 1.0 0.0 0.0 N/A
Other Sub 496 A=1.000 C=0.000 1.0 0.0 0.0 N/A


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 A=0.999996 C=0.000004
gnomAD - Genomes Global Study-wide 140224 A=0.999993 C=0.000007
gnomAD - Genomes European Sub 75938 A=0.99999 C=0.00001
gnomAD - Genomes African Sub 42038 A=1.00000 C=0.00000
gnomAD - Genomes American Sub 13640 A=1.00000 C=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=1.0000 C=0.0000
gnomAD - Genomes East Asian Sub 3134 A=1.0000 C=0.0000
gnomAD - Genomes Other Sub 2150 A=1.0000 C=0.0000
Allele Frequency Aggregator Total Global 14050 A=1.00000 C=0.00000
Allele Frequency Aggregator European Sub 9690 A=1.0000 C=0.0000
Allele Frequency Aggregator African Sub 2898 A=1.0000 C=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 A=1.000 C=0.000
Allele Frequency Aggregator Other Sub 496 A=1.000 C=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 A=1.000 C=0.000
Allele Frequency Aggregator Asian Sub 112 A=1.000 C=0.000
Allele Frequency Aggregator South Asian Sub 98 A=1.00 C=0.00
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 16 NC_000016.10:g.28825796A>C
GRCh37.p13 chr 16 NC_000016.9:g.28837117A>C
Gene: ATXN2L, ataxin 2 like (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ATXN2L transcript variant 36 NM_001387194.1:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform 30 NP_001374123.1:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant 1 NM_007245.4:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform 1 NP_009176.2:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant 7 NM_001308230.2:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform 7 NP_001295159.1:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant 37 NM_001387195.1:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform 31 NP_001374124.1:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant 32 NM_001387190.1:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform 26 NP_001374119.1:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant 16 NM_001387174.1:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform 13 NP_001374103.1:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant 13 NM_001387171.1:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform 10 NP_001374100.1:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant 42 NM_001387200.1:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform 34 NP_001374129.1:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant 4 NM_148415.3:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform 4 NP_680781.1:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant 22 NM_001387180.1:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform 16 NP_001374109.1:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant 20 NM_001387178.1:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform 14 NP_001374107.1:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant 23 NM_001387181.1:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform 17 NP_001374110.1:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant 10 NM_001387168.1:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform 3 NP_001374097.1:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant 39 NM_001387198.1:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform 31 NP_001374127.1:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant 18 NM_001387176.1:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform 13 NP_001374105.1:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant 21 NM_001387179.1:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform 15 NP_001374108.1:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant 34 NM_001387192.1:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform 28 NP_001374121.1:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant 19 NM_001387177.1:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform 13 NP_001374106.1:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant 35 NM_001387193.1:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform 29 NP_001374122.1:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant 44 NM_001387203.1:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform 36 NP_001374132.1:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant 24 NM_001387182.1:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform 18 NP_001374111.1:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant 6 NM_017492.4:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform 6 NP_059867.3:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant 11 NM_001387169.1:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform 9 NP_001374098.1:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant 29 NM_001387187.1:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform 23 NP_001374116.1:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant 5 NM_148416.3:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform 5 NP_680782.1:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant 15 NM_001387173.1:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform 12 NP_001374102.1:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant 28 NM_001387186.1:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform 22 NP_001374115.1:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant 38 NM_001387196.1:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform 31 NP_001374125.1:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant 41 NM_001387199.1:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform 33 NP_001374128.1:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant 3 NM_148414.3:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform 3 NP_680780.1:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant 27 NM_001387185.1:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform 21 NP_001374114.1:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant 14 NM_001387172.1:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform 11 NP_001374101.1:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant 9 NM_001387167.1:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform 3 NP_001374096.1:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant 43 NM_001387202.1:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform 35 NP_001374131.1:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant 25 NM_001387183.1:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform 19 NP_001374112.1:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant 2 NM_145714.3:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform 2 NP_663760.1:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant 17 NM_001387175.1:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform 13 NP_001374104.1:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant 8 NM_001387166.1:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform 8 NP_001374095.1:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant 31 NM_001387189.1:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform 25 NP_001374118.1:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant 45 NM_001387204.1:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform 37 NP_001374133.1:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant 26 NM_001387184.1:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform 20 NP_001374113.1:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant 33 NM_001387191.1:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform 27 NP_001374120.1:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant 12 NM_001387170.1:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform 9 NP_001374099.1:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant 30 NM_001387188.1:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform 24 NP_001374117.1:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant 40 NM_001387197.1:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform 32 NP_001374126.1:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant X1 XM_005255062.2:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform X1 XP_005255119.1:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant X2 XM_011545719.3:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform X1 XP_011544021.1:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant X3 XM_047433525.1:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform X1 XP_047289481.1:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant X4 XM_047433526.1:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform X2 XP_047289482.1:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant X5 XM_005255074.2:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform X3 XP_005255131.1:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant X6 XM_006721011.2:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform X4 XP_006721074.1:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant X7 XM_006721012.5:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform X4 XP_006721075.1:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant X8 XM_047433527.1:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform X4 XP_047289483.1:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant X9 XM_047433528.1:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform X4 XP_047289484.1:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant X10 XM_047433529.1:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform X4 XP_047289485.1:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant X11 XM_047433530.1:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform X5 XP_047289486.1:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant X12 XM_047433531.1:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform X6 XP_047289487.1:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant X13 XM_047433532.1:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform X7 XP_047289488.1:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant X14 XM_047433533.1:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform X8 XP_047289489.1:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant X15 XM_047433534.1:c.240A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform X9 XP_047289490.1:p.Lys80Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant X16 XM_047433535.1:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform X10 XP_047289491.1:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant X17 XM_047433536.1:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform X11 XP_047289492.1:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant X18 XM_047433537.1:c.420A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform X12 XP_047289493.1:p.Lys140Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant X19 XM_047433538.1:c.240A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform X13 XP_047289494.1:p.Lys80Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant X20 XM_047433539.1:c.240A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform X14 XP_047289495.1:p.Lys80Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant X21 XM_047433540.1:c.240A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform X15 XP_047289496.1:p.Lys80Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant X22 XM_047433541.1:c.240A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform X16 XP_047289497.1:p.Lys80Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant X23 XM_047433542.1:c.240A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform X17 XP_047289498.1:p.Lys80Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant X24 XM_047433543.1:c.240A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform X18 XP_047289499.1:p.Lys80Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant X25 XM_047433544.1:c.240A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform X19 XP_047289500.1:p.Lys80Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant X26 XM_047433545.1:c.240A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform X20 XP_047289501.1:p.Lys80Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant X27 XM_047433546.1:c.240A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform X21 XP_047289502.1:p.Lys80Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant X28 XM_047433548.1:c.240A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform X22 XP_047289504.1:p.Lys80Asn K (Lys) > N (Asn) Missense Variant
ATXN2L transcript variant X29 XM_047433549.1:c.240A>C K [AAA] > N [AAC] Coding Sequence Variant
ataxin-2-like protein isoform X23 XP_047289505.1:p.Lys80Asn K (Lys) > N (Asn) Missense Variant
Gene: LOC124903672, uncharacterized LOC124903672 (minus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
LOC124903672 transcript XR_007065042.1:n. N/A Upstream Transcript 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
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Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement A= C
GRCh38.p14 chr 16 NC_000016.10:g.28825796= NC_000016.10:g.28825796A>C
GRCh37.p13 chr 16 NC_000016.9:g.28837117= NC_000016.9:g.28837117A>C
ATXN2L transcript variant X7 XM_006721012.5:c.420= XM_006721012.5:c.420A>C
ATXN2L transcript variant X23 XM_006721012.4:c.420= XM_006721012.4:c.420A>C
ATXN2L transcript variant X23 XM_006721012.3:c.420= XM_006721012.3:c.420A>C
ATXN2L transcript variant X24 XM_006721012.2:c.420= XM_006721012.2:c.420A>C
ATXN2L transcript variant X24 XM_006721012.1:c.420= XM_006721012.1:c.420A>C
ATXN2L transcript variant 1 NM_007245.4:c.420= NM_007245.4:c.420A>C
ATXN2L transcript variant A NM_007245.3:c.420= NM_007245.3:c.420A>C
ATXN2L transcript variant 6 NM_017492.4:c.420= NM_017492.4:c.420A>C
ATXN2L transcript variant F NM_017492.3:c.420= NM_017492.3:c.420A>C
ATXN2L transcript variant X2 XM_011545719.3:c.420= XM_011545719.3:c.420A>C
ATXN2L transcript variant X3 XM_011545719.2:c.420= XM_011545719.2:c.420A>C
ATXN2L transcript variant X3 XM_011545719.1:c.420= XM_011545719.1:c.420A>C
ATXN2L transcript variant 3 NM_148414.3:c.420= NM_148414.3:c.420A>C
ATXN2L transcript variant C NM_148414.2:c.420= NM_148414.2:c.420A>C
ATXN2L transcript variant 2 NM_145714.3:c.420= NM_145714.3:c.420A>C
ATXN2L transcript variant B NM_145714.2:c.420= NM_145714.2:c.420A>C
ATXN2L transcript variant 4 NM_148415.3:c.420= NM_148415.3:c.420A>C
ATXN2L transcript variant D NM_148415.2:c.420= NM_148415.2:c.420A>C
ATXN2L transcript variant 5 NM_148416.3:c.420= NM_148416.3:c.420A>C
ATXN2L transcript variant E NM_148416.2:c.420= NM_148416.2:c.420A>C
ATXN2L transcript variant X6 XM_006721011.2:c.420= XM_006721011.2:c.420A>C
ATXN2L transcript variant X22 XM_006721011.1:c.420= XM_006721011.1:c.420A>C
ATXN2L transcript variant X1 XM_005255062.2:c.420= XM_005255062.2:c.420A>C
ATXN2L transcript variant X2 XM_005255062.1:c.420= XM_005255062.1:c.420A>C
ATXN2L transcript variant 7 NM_001308230.2:c.420= NM_001308230.2:c.420A>C
ATXN2L transcript variant G NM_001308230.1:c.420= NM_001308230.1:c.420A>C
ATXN2L transcript variant X5 XM_005255074.2:c.420= XM_005255074.2:c.420A>C
ATXN2L transcript variant X19 XM_005255074.1:c.420= XM_005255074.1:c.420A>C
ATXN2L transcript variant 13 NM_001387171.1:c.420= NM_001387171.1:c.420A>C
ATXN2L transcript variant 14 NM_001387172.1:c.420= NM_001387172.1:c.420A>C
ATXN2L transcript variant 20 NM_001387178.1:c.420= NM_001387178.1:c.420A>C
ATXN2L transcript variant 22 NM_001387180.1:c.420= NM_001387180.1:c.420A>C
ATXN2L transcript variant X4 XM_047433526.1:c.420= XM_047433526.1:c.420A>C
ATXN2L transcript variant 29 NM_001387187.1:c.420= NM_001387187.1:c.420A>C
ATXN2L transcript variant 28 NM_001387186.1:c.420= NM_001387186.1:c.420A>C
ATXN2L transcript variant 30 NM_001387188.1:c.420= NM_001387188.1:c.420A>C
ATXN2L transcript variant X15 XM_047433534.1:c.240= XM_047433534.1:c.240A>C
ATXN2L transcript variant 44 NM_001387203.1:c.420= NM_001387203.1:c.420A>C
ATXN2L transcript variant X19 XM_047433538.1:c.240= XM_047433538.1:c.240A>C
ATXN2L transcript variant X20 XM_047433539.1:c.240= XM_047433539.1:c.240A>C
ATXN2L transcript variant X11 XM_047433530.1:c.420= XM_047433530.1:c.420A>C
ATXN2L transcript variant X12 XM_047433531.1:c.420= XM_047433531.1:c.420A>C
ATXN2L transcript variant X13 XM_047433532.1:c.420= XM_047433532.1:c.420A>C
ATXN2L transcript variant 8 NM_001387166.1:c.420= NM_001387166.1:c.420A>C
ATXN2L transcript variant X17 XM_047433536.1:c.420= XM_047433536.1:c.420A>C
ATXN2L transcript variant X3 XM_047433525.1:c.420= XM_047433525.1:c.420A>C
ATXN2L transcript variant 10 NM_001387168.1:c.420= NM_001387168.1:c.420A>C
ATXN2L transcript variant X18 XM_047433537.1:c.420= XM_047433537.1:c.420A>C
ATXN2L transcript variant 9 NM_001387167.1:c.420= NM_001387167.1:c.420A>C
ATXN2L transcript variant 12 NM_001387170.1:c.420= NM_001387170.1:c.420A>C
ATXN2L transcript variant 15 NM_001387173.1:c.420= NM_001387173.1:c.420A>C
ATXN2L transcript variant 16 NM_001387174.1:c.420= NM_001387174.1:c.420A>C
ATXN2L transcript variant 18 NM_001387176.1:c.420= NM_001387176.1:c.420A>C
ATXN2L transcript variant 11 NM_001387169.1:c.420= NM_001387169.1:c.420A>C
ATXN2L transcript variant X25 XM_047433544.1:c.240= XM_047433544.1:c.240A>C
ATXN2L transcript variant X26 XM_047433545.1:c.240= XM_047433545.1:c.240A>C
ATXN2L transcript variant 17 NM_001387175.1:c.420= NM_001387175.1:c.420A>C
ATXN2L transcript variant 21 NM_001387179.1:c.420= NM_001387179.1:c.420A>C
ATXN2L transcript variant 27 NM_001387185.1:c.420= NM_001387185.1:c.420A>C
ATXN2L transcript variant X29 XM_047433549.1:c.240= XM_047433549.1:c.240A>C
ATXN2L transcript variant X10 XM_047433529.1:c.420= XM_047433529.1:c.420A>C
ATXN2L transcript variant 35 NM_001387193.1:c.420= NM_001387193.1:c.420A>C
ATXN2L transcript variant 25 NM_001387183.1:c.420= NM_001387183.1:c.420A>C
ATXN2L transcript variant 23 NM_001387181.1:c.420= NM_001387181.1:c.420A>C
ATXN2L transcript variant 24 NM_001387182.1:c.420= NM_001387182.1:c.420A>C
ATXN2L transcript variant 38 NM_001387196.1:c.420= NM_001387196.1:c.420A>C
ATXN2L transcript variant X9 XM_047433528.1:c.420= XM_047433528.1:c.420A>C
ATXN2L transcript variant 36 NM_001387194.1:c.420= NM_001387194.1:c.420A>C
ATXN2L transcript variant 37 NM_001387195.1:c.420= NM_001387195.1:c.420A>C
ATXN2L transcript variant X8 XM_047433527.1:c.420= XM_047433527.1:c.420A>C
ATXN2L transcript variant 26 NM_001387184.1:c.420= NM_001387184.1:c.420A>C
ATXN2L transcript variant 39 NM_001387198.1:c.420= NM_001387198.1:c.420A>C
ATXN2L transcript variant 31 NM_001387189.1:c.420= NM_001387189.1:c.420A>C
ATXN2L transcript variant 40 NM_001387197.1:c.420= NM_001387197.1:c.420A>C
ATXN2L transcript variant 34 NM_001387192.1:c.420= NM_001387192.1:c.420A>C
ATXN2L transcript variant 32 NM_001387190.1:c.420= NM_001387190.1:c.420A>C
ATXN2L transcript variant 33 NM_001387191.1:c.420= NM_001387191.1:c.420A>C
ATXN2L transcript variant 42 NM_001387200.1:c.420= NM_001387200.1:c.420A>C
ATXN2L transcript variant X14 XM_047433533.1:c.420= XM_047433533.1:c.420A>C
ATXN2L transcript variant X16 XM_047433535.1:c.420= XM_047433535.1:c.420A>C
ATXN2L transcript variant 41 NM_001387199.1:c.420= NM_001387199.1:c.420A>C
ATXN2L transcript variant 43 NM_001387202.1:c.420= NM_001387202.1:c.420A>C
ATXN2L transcript variant X21 XM_047433540.1:c.240= XM_047433540.1:c.240A>C
ATXN2L transcript variant X22 XM_047433541.1:c.240= XM_047433541.1:c.240A>C
ATXN2L transcript variant X23 XM_047433542.1:c.240= XM_047433542.1:c.240A>C
ATXN2L transcript variant X24 XM_047433543.1:c.240= XM_047433543.1:c.240A>C
ATXN2L transcript variant 45 NM_001387204.1:c.420= NM_001387204.1:c.420A>C
ATXN2L transcript variant 19 NM_001387177.1:c.420= NM_001387177.1:c.420A>C
ATXN2L transcript variant X27 XM_047433546.1:c.240= XM_047433546.1:c.240A>C
ATXN2L transcript variant X28 XM_047433548.1:c.240= XM_047433548.1:c.240A>C
ataxin-2-like protein isoform X4 XP_006721075.1:p.Lys140= XP_006721075.1:p.Lys140Asn
ataxin-2-like protein isoform 1 NP_009176.2:p.Lys140= NP_009176.2:p.Lys140Asn
ataxin-2-like protein isoform 6 NP_059867.3:p.Lys140= NP_059867.3:p.Lys140Asn
ataxin-2-like protein isoform X1 XP_011544021.1:p.Lys140= XP_011544021.1:p.Lys140Asn
ataxin-2-like protein isoform 3 NP_680780.1:p.Lys140= NP_680780.1:p.Lys140Asn
ataxin-2-like protein isoform 2 NP_663760.1:p.Lys140= NP_663760.1:p.Lys140Asn
ataxin-2-like protein isoform 4 NP_680781.1:p.Lys140= NP_680781.1:p.Lys140Asn
ataxin-2-like protein isoform 5 NP_680782.1:p.Lys140= NP_680782.1:p.Lys140Asn
ataxin-2-like protein isoform X4 XP_006721074.1:p.Lys140= XP_006721074.1:p.Lys140Asn
ataxin-2-like protein isoform X1 XP_005255119.1:p.Lys140= XP_005255119.1:p.Lys140Asn
ataxin-2-like protein isoform 7 NP_001295159.1:p.Lys140= NP_001295159.1:p.Lys140Asn
ataxin-2-like protein isoform X3 XP_005255131.1:p.Lys140= XP_005255131.1:p.Lys140Asn
ataxin-2-like protein isoform 10 NP_001374100.1:p.Lys140= NP_001374100.1:p.Lys140Asn
ataxin-2-like protein isoform 11 NP_001374101.1:p.Lys140= NP_001374101.1:p.Lys140Asn
ataxin-2-like protein isoform 14 NP_001374107.1:p.Lys140= NP_001374107.1:p.Lys140Asn
ataxin-2-like protein isoform 16 NP_001374109.1:p.Lys140= NP_001374109.1:p.Lys140Asn
ataxin-2-like protein isoform X2 XP_047289482.1:p.Lys140= XP_047289482.1:p.Lys140Asn
ataxin-2-like protein isoform 23 NP_001374116.1:p.Lys140= NP_001374116.1:p.Lys140Asn
ataxin-2-like protein isoform 22 NP_001374115.1:p.Lys140= NP_001374115.1:p.Lys140Asn
ataxin-2-like protein isoform 24 NP_001374117.1:p.Lys140= NP_001374117.1:p.Lys140Asn
ataxin-2-like protein isoform X9 XP_047289490.1:p.Lys80= XP_047289490.1:p.Lys80Asn
ataxin-2-like protein isoform 36 NP_001374132.1:p.Lys140= NP_001374132.1:p.Lys140Asn
ataxin-2-like protein isoform X13 XP_047289494.1:p.Lys80= XP_047289494.1:p.Lys80Asn
ataxin-2-like protein isoform X14 XP_047289495.1:p.Lys80= XP_047289495.1:p.Lys80Asn
ataxin-2-like protein isoform X5 XP_047289486.1:p.Lys140= XP_047289486.1:p.Lys140Asn
ataxin-2-like protein isoform X6 XP_047289487.1:p.Lys140= XP_047289487.1:p.Lys140Asn
ataxin-2-like protein isoform X7 XP_047289488.1:p.Lys140= XP_047289488.1:p.Lys140Asn
ataxin-2-like protein isoform 8 NP_001374095.1:p.Lys140= NP_001374095.1:p.Lys140Asn
ataxin-2-like protein isoform X11 XP_047289492.1:p.Lys140= XP_047289492.1:p.Lys140Asn
ataxin-2-like protein isoform X1 XP_047289481.1:p.Lys140= XP_047289481.1:p.Lys140Asn
ataxin-2-like protein isoform 3 NP_001374097.1:p.Lys140= NP_001374097.1:p.Lys140Asn
ataxin-2-like protein isoform X12 XP_047289493.1:p.Lys140= XP_047289493.1:p.Lys140Asn
ataxin-2-like protein isoform 3 NP_001374096.1:p.Lys140= NP_001374096.1:p.Lys140Asn
ataxin-2-like protein isoform 9 NP_001374099.1:p.Lys140= NP_001374099.1:p.Lys140Asn
ataxin-2-like protein isoform 12 NP_001374102.1:p.Lys140= NP_001374102.1:p.Lys140Asn
ataxin-2-like protein isoform 13 NP_001374103.1:p.Lys140= NP_001374103.1:p.Lys140Asn
ataxin-2-like protein isoform 13 NP_001374105.1:p.Lys140= NP_001374105.1:p.Lys140Asn
ataxin-2-like protein isoform 9 NP_001374098.1:p.Lys140= NP_001374098.1:p.Lys140Asn
ataxin-2-like protein isoform X19 XP_047289500.1:p.Lys80= XP_047289500.1:p.Lys80Asn
ataxin-2-like protein isoform X20 XP_047289501.1:p.Lys80= XP_047289501.1:p.Lys80Asn
ataxin-2-like protein isoform 13 NP_001374104.1:p.Lys140= NP_001374104.1:p.Lys140Asn
ataxin-2-like protein isoform 15 NP_001374108.1:p.Lys140= NP_001374108.1:p.Lys140Asn
ataxin-2-like protein isoform 21 NP_001374114.1:p.Lys140= NP_001374114.1:p.Lys140Asn
ataxin-2-like protein isoform X23 XP_047289505.1:p.Lys80= XP_047289505.1:p.Lys80Asn
ataxin-2-like protein isoform X4 XP_047289485.1:p.Lys140= XP_047289485.1:p.Lys140Asn
ataxin-2-like protein isoform 29 NP_001374122.1:p.Lys140= NP_001374122.1:p.Lys140Asn
ataxin-2-like protein isoform 19 NP_001374112.1:p.Lys140= NP_001374112.1:p.Lys140Asn
ataxin-2-like protein isoform 17 NP_001374110.1:p.Lys140= NP_001374110.1:p.Lys140Asn
ataxin-2-like protein isoform 18 NP_001374111.1:p.Lys140= NP_001374111.1:p.Lys140Asn
ataxin-2-like protein isoform 31 NP_001374125.1:p.Lys140= NP_001374125.1:p.Lys140Asn
ataxin-2-like protein isoform X4 XP_047289484.1:p.Lys140= XP_047289484.1:p.Lys140Asn
ataxin-2-like protein isoform 30 NP_001374123.1:p.Lys140= NP_001374123.1:p.Lys140Asn
ataxin-2-like protein isoform 31 NP_001374124.1:p.Lys140= NP_001374124.1:p.Lys140Asn
ataxin-2-like protein isoform X4 XP_047289483.1:p.Lys140= XP_047289483.1:p.Lys140Asn
ataxin-2-like protein isoform 20 NP_001374113.1:p.Lys140= NP_001374113.1:p.Lys140Asn
ataxin-2-like protein isoform 31 NP_001374127.1:p.Lys140= NP_001374127.1:p.Lys140Asn
ataxin-2-like protein isoform 25 NP_001374118.1:p.Lys140= NP_001374118.1:p.Lys140Asn
ataxin-2-like protein isoform 32 NP_001374126.1:p.Lys140= NP_001374126.1:p.Lys140Asn
ataxin-2-like protein isoform 28 NP_001374121.1:p.Lys140= NP_001374121.1:p.Lys140Asn
ataxin-2-like protein isoform 26 NP_001374119.1:p.Lys140= NP_001374119.1:p.Lys140Asn
ataxin-2-like protein isoform 27 NP_001374120.1:p.Lys140= NP_001374120.1:p.Lys140Asn
ataxin-2-like protein isoform 34 NP_001374129.1:p.Lys140= NP_001374129.1:p.Lys140Asn
ataxin-2-like protein isoform X8 XP_047289489.1:p.Lys140= XP_047289489.1:p.Lys140Asn
ataxin-2-like protein isoform X10 XP_047289491.1:p.Lys140= XP_047289491.1:p.Lys140Asn
ataxin-2-like protein isoform 33 NP_001374128.1:p.Lys140= NP_001374128.1:p.Lys140Asn
ataxin-2-like protein isoform 35 NP_001374131.1:p.Lys140= NP_001374131.1:p.Lys140Asn
ataxin-2-like protein isoform X15 XP_047289496.1:p.Lys80= XP_047289496.1:p.Lys80Asn
ataxin-2-like protein isoform X16 XP_047289497.1:p.Lys80= XP_047289497.1:p.Lys80Asn
ataxin-2-like protein isoform X17 XP_047289498.1:p.Lys80= XP_047289498.1:p.Lys80Asn
ataxin-2-like protein isoform X18 XP_047289499.1:p.Lys80= XP_047289499.1:p.Lys80Asn
ataxin-2-like protein isoform 37 NP_001374133.1:p.Lys140= NP_001374133.1:p.Lys140Asn
ataxin-2-like protein isoform 13 NP_001374106.1:p.Lys140= NP_001374106.1:p.Lys140Asn
ataxin-2-like protein isoform X21 XP_047289502.1:p.Lys80= XP_047289502.1:p.Lys80Asn
ataxin-2-like protein isoform X22 XP_047289504.1:p.Lys80= XP_047289504.1:p.Lys80Asn
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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#.

2 SubSNP, 3 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss4299263719 Apr 27, 2021 (155)
2 TOPMED ss5012352104 Apr 27, 2021 (155)
3 gnomAD - Genomes NC_000016.10 - 28825796 Apr 27, 2021 (155)
4 TopMed NC_000016.10 - 28825796 Apr 27, 2021 (155)
5 ALFA NC_000016.10 - 28825796 Apr 27, 2021 (155)
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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
486868550, 227897765, 14581175718, ss4299263719, ss5012352104 NC_000016.10:28825795:A:C NC_000016.10:28825795:A:C (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 rs1472168448

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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