dbSNP Short Genetic Variations
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.
rs1476245694
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr22:35745988 (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
- T>C
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
C=0.000004 (1/250836, GnomAD_exome)C=0.0001 (1/8988, ALFA)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- RBFOX2 : Missense 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 | 8988 | T=0.9999 | C=0.0001 | 0.999777 | 0.0 | 0.000223 | 0 |
| European | Sub | 6062 | T=1.0000 | C=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| African | Sub | 594 | T=1.000 | C=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| African Others | Sub | 8 | T=1.0 | C=0.0 | 1.0 | 0.0 | 0.0 | N/A |
| African American | Sub | 586 | T=1.000 | C=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| Asian | Sub | 56 | T=1.00 | C=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| East Asian | Sub | 26 | T=1.00 | C=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Other Asian | Sub | 30 | T=1.00 | C=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 1 | Sub | 0 | T=0 | C=0 | 0 | 0 | 0 | N/A |
| Latin American 2 | Sub | 0 | T=0 | C=0 | 0 | 0 | 0 | N/A |
| South Asian | Sub | 0 | T=0 | C=0 | 0 | 0 | 0 | N/A |
| Other | Sub | 2276 | T=0.9996 | C=0.0004 | 0.999121 | 0.0 | 0.000879 | 0 |
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 |
|---|---|---|---|---|---|
| gnomAD - Exomes | Global | Study-wide | 250836 | T=0.999996 | C=0.000004 |
| gnomAD - Exomes | European | Sub | 135102 | T=0.999993 | C=0.000007 |
| gnomAD - Exomes | Asian | Sub | 48866 | T=1.00000 | C=0.00000 |
| gnomAD - Exomes | American | Sub | 34454 | T=1.00000 | C=0.00000 |
| gnomAD - Exomes | African | Sub | 16230 | T=1.00000 | C=0.00000 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 10060 | T=1.00000 | C=0.00000 |
| gnomAD - Exomes | Other | Sub | 6124 | T=1.0000 | C=0.0000 |
| Allele Frequency Aggregator | Total | Global | 8988 | T=0.9999 | C=0.0001 |
| Allele Frequency Aggregator | European | Sub | 6062 | T=1.0000 | C=0.0000 |
| Allele Frequency Aggregator | Other | Sub | 2276 | T=0.9996 | C=0.0004 |
| Allele Frequency Aggregator | African | Sub | 594 | T=1.000 | C=0.000 |
| Allele Frequency Aggregator | Asian | Sub | 56 | T=1.00 | C=0.00 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 0 | T=0 | C=0 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 0 | T=0 | C=0 |
| Allele Frequency Aggregator | South Asian | Sub | 0 | T=0 | C=0 |
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 22 | NC_000022.11:g.35745988T>C |
| GRCh37.p13 chr 22 | NC_000022.10:g.36142035T>C |
| RBFOX2 RefSeqGene | NG_029628.1:g.287551A>G |
| GRCh38.p14 chr 22 alt locus HSCHR22_1_CTG4 | NT_187630.1:g.66986T>C |
Gene: RBFOX2, RNA binding fox-1 homolog 2
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| RBFOX2 transcript variant 13 | NM_001349994.2:c.1047A>G | A [GCA] > A [GCG] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 2 isoform 13 | NP_001336923.1:p.Ala349= | A (Ala) > A (Ala) | Synonymous Variant |
| RBFOX2 transcript variant 10 | NM_001349990.2:c.1087A>G | R [AGG] > G [GGG] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 2 isoform 10 | NP_001336919.1:p.Arg363Gly | R (Arg) > G (Gly) | Missense Variant |
| RBFOX2 transcript variant 4 | NM_001082577.3:c.993A>G | A [GCA] > A [GCG] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 2 isoform 4 | NP_001076046.1:p.Ala331= | A (Ala) > A (Ala) | Synonymous Variant |
| RBFOX2 transcript variant 2 | NM_014309.4:c.984A>G | A [GCA] > A [GCG] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 2 isoform 2 | NP_055124.1:p.Ala328= | A (Ala) > A (Ala) | Synonymous Variant |
| RBFOX2 transcript variant 7 | NM_001349983.2:c.1053A>G | A [GCA] > A [GCG] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 2 isoform 7 | NP_001336912.1:p.Ala351= | A (Ala) > A (Ala) | Synonymous Variant |
| RBFOX2 transcript variant 17 | NM_001349998.2:c.1065A>G | A [GCA] > A [GCG] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 2 isoform 17 | NP_001336927.1:p.Ala355= | A (Ala) > A (Ala) | Synonymous Variant |
| RBFOX2 transcript variant 3 | NM_001082576.3:c.1021A>G | R [AGG] > G [GGG] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 2 isoform 3 | NP_001076045.1:p.Arg341Gly | R (Arg) > G (Gly) | Missense Variant |
| RBFOX2 transcript variant 9 | NM_001349989.2:c.1099A>G | R [AGG] > G [GGG] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 2 isoform 9 | NP_001336918.1:p.Arg367Gly | R (Arg) > G (Gly) | Missense Variant |
| RBFOX2 transcript variant 1 | NM_001031695.4:c.1033A>G | R [AGG] > G [GGG] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 2 isoform 1 | NP_001026865.1:p.Arg345Gly | R (Arg) > G (Gly) | Missense Variant |
| RBFOX2 transcript variant 16 | NM_001349997.2:c.1036A>G | R [AGG] > G [GGG] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 2 isoform 16 | NP_001336926.1:p.Arg346Gly | R (Arg) > G (Gly) | Missense Variant |
| RBFOX2 transcript variant 15 | NM_001349996.2:c.1087A>G | R [AGG] > G [GGG] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 2 isoform 15 | NP_001336925.1:p.Arg363Gly | R (Arg) > G (Gly) | Missense Variant |
| RBFOX2 transcript variant 8 | NM_001349982.2:c.1119A>G | A [GCA] > A [GCG] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 2 isoform 8 | NP_001336911.1:p.Ala373= | A (Ala) > A (Ala) | Synonymous Variant |
| RBFOX2 transcript variant 12 | NM_001349992.2:c.1059A>G | A [GCA] > A [GCG] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 2 isoform 12 | NP_001336921.1:p.Ala353= | A (Ala) > A (Ala) | Synonymous Variant |
| RBFOX2 transcript variant 11 | NM_001349991.2:c.1131A>G | A [GCA] > A [GCG] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 2 isoform 11 | NP_001336920.1:p.Ala377= | A (Ala) > A (Ala) | Synonymous Variant |
| RBFOX2 transcript variant 14 | NM_001349995.2:c.966A>G | A [GCA] > A [GCG] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 2 isoform 14 | NP_001336924.1:p.Ala322= | A (Ala) > A (Ala) | Synonymous Variant |
| RBFOX2 transcript variant 18 | NM_001349999.2:c.1234A>G | R [AGG] > G [GGG] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 2 isoform 18 | NP_001336928.2:p.Arg412Gly | R (Arg) > G (Gly) | Missense Variant |
| RBFOX2 transcript variant 5 | NM_001082578.4:c.1246A>G | R [AGG] > G [GGG] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 2 isoform 5 | NP_001076047.2:p.Arg416Gly | R (Arg) > G (Gly) | Missense Variant |
| RBFOX2 transcript variant 6 | NM_001082579.3:c.1243A>G | R [AGG] > G [GGG] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 2 isoform 6 | NP_001076048.2:p.Arg415Gly | R (Arg) > G (Gly) | Missense Variant |
| RBFOX2 transcript variant 26 | NM_001394115.1:c.1191A>G | A [GCA] > A [GCG] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 2 isoform 26 | NP_001381044.1:p.Ala397= | A (Ala) > A (Ala) | Synonymous Variant |
| RBFOX2 transcript variant 24 | NM_001394113.1:c.1231A>G | R [AGG] > G [GGG] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 2 isoform 24 | NP_001381042.1:p.Arg411Gly | R (Arg) > G (Gly) | Missense Variant |
| RBFOX2 transcript variant 22 | NM_001394111.1:c.1098A>G | A [GCA] > A [GCG] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 2 isoform 22 | NP_001381040.1:p.Ala366= | A (Ala) > A (Ala) | Synonymous Variant |
| RBFOX2 transcript variant 23 | NM_001394112.1:c.1231A>G | R [AGG] > G [GGG] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 2 isoform 23 | NP_001381041.1:p.Arg411Gly | R (Arg) > G (Gly) | Missense Variant |
| RBFOX2 transcript variant 21 | NM_001394110.1:c.1138A>G | R [AGG] > G [GGG] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 2 isoform 21 | NP_001381039.1:p.Arg380Gly | R (Arg) > G (Gly) | Missense Variant |
| RBFOX2 transcript variant 19 | NM_001394108.1:c.1228A>G | R [AGG] > G [GGG] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 2 isoform 19 | NP_001381037.1:p.Arg410Gly | R (Arg) > G (Gly) | Missense Variant |
| RBFOX2 transcript variant 20 | NM_001394109.1:c.1138A>G | R [AGG] > G [GGG] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 2 isoform 20 | NP_001381038.1:p.Arg380Gly | R (Arg) > G (Gly) | Missense Variant |
| RBFOX2 transcript variant 25 | NM_001394114.1:c.1194A>G | A [GCA] > A [GCG] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 2 isoform 25 | NP_001381043.1:p.Ala398= | A (Ala) > A (Ala) | Synonymous Variant |
| RBFOX2 transcript variant X19 | XM_006724193.4:c. | N/A | Genic Downstream Transcript Variant |
| RBFOX2 transcript variant X7 | XM_017028686.1:c.1104A>G | A [GCA] > A [GCG] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 2 isoform X7 | XP_016884175.1:p.Ala368= | A (Ala) > A (Ala) | Synonymous Variant |
| RBFOX2 transcript variant X1 | XM_006724185.3:c.1278A>G | A [GCA] > A [GCG] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 2 isoform X1 | XP_006724248.1:p.Ala426= | A (Ala) > A (Ala) | Synonymous Variant |
| RBFOX2 transcript variant X2 | XM_006724186.3:c.1275A>G | A [GCA] > A [GCG] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 2 isoform X2 | XP_006724249.1:p.Ala425= | A (Ala) > A (Ala) | Synonymous Variant |
| RBFOX2 transcript variant X3 | XM_005261428.3:c.1266A>G | A [GCA] > A [GCG] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 2 isoform X3 | XP_005261485.1:p.Ala422= | A (Ala) > A (Ala) | Synonymous Variant |
| RBFOX2 transcript variant X4 | XM_005261429.3:c.1263A>G | A [GCA] > A [GCG] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 2 isoform X4 | XP_005261486.1:p.Ala421= | A (Ala) > A (Ala) | Synonymous Variant |
| RBFOX2 transcript variant X5 | XM_006724187.3:c.1249A>G | R [AGG] > G [GGG] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 2 isoform X5 | XP_006724250.1:p.Arg417Gly | R (Arg) > G (Gly) | Missense Variant |
| RBFOX2 transcript variant X6 | XM_005261430.3:c.1237A>G | R [AGG] > G [GGG] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 2 isoform X6 | XP_005261487.1:p.Arg413Gly | R (Arg) > G (Gly) | Missense Variant |
| RBFOX2 transcript variant X8 | XM_006724188.3:c.1206A>G | A [GCA] > A [GCG] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 2 isoform X8 | XP_006724251.1:p.Ala402= | A (Ala) > A (Ala) | Synonymous Variant |
| RBFOX2 transcript variant X9 | XM_017028687.3:c.1200A>G | A [GCA] > A [GCG] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 2 isoform X9 | XP_016884176.1:p.Ala400= | A (Ala) > A (Ala) | Synonymous Variant |
| RBFOX2 transcript variant X10 | XM_024452188.2:c.1197A>G | A [GCA] > A [GCG] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 2 isoform X10 | XP_024307956.1:p.Ala399= | A (Ala) > A (Ala) | Synonymous Variant |
| RBFOX2 transcript variant X11 | XM_006724189.4:c.1134A>G | A [GCA] > A [GCG] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 2 isoform X11 | XP_006724252.1:p.Ala378= | A (Ala) > A (Ala) | Synonymous Variant |
| RBFOX2 transcript variant X12 | XM_047441250.1:c.1122A>G | A [GCA] > A [GCG] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 2 isoform X12 | XP_047297206.1:p.Ala374= | A (Ala) > A (Ala) | Synonymous Variant |
| RBFOX2 transcript variant X13 | XM_017028690.2:c.1086A>G | A [GCA] > A [GCG] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 2 isoform X13 | XP_016884179.1:p.Ala362= | A (Ala) > A (Ala) | Synonymous Variant |
| RBFOX2 transcript variant X14 | XM_017028691.2:c.1083A>G | A [GCA] > A [GCG] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 2 isoform X14 | XP_016884180.1:p.Ala361= | A (Ala) > A (Ala) | Synonymous Variant |
| RBFOX2 transcript variant X15 | XM_006724191.2:c.1068A>G | A [GCA] > A [GCG] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 2 isoform X15 | XP_006724254.1:p.Ala356= | A (Ala) > A (Ala) | Synonymous Variant |
| RBFOX2 transcript variant X16 | XM_047441251.1:c.1090A>G | R [AGG] > G [GGG] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 2 isoform X16 | XP_047297207.1:p.Arg364Gly | R (Arg) > G (Gly) | Missense Variant |
| RBFOX2 transcript variant X17 | XM_017028693.2:c.1056A>G | A [GCA] > A [GCG] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 2 isoform X17 | XP_016884182.1:p.Ala352= | A (Ala) > A (Ala) | Synonymous Variant |
| RBFOX2 transcript variant X18 | XM_006724192.3:c.1056A>G | A [GCA] > A [GCG] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 2 isoform X18 | XP_006724255.1:p.Ala352= | A (Ala) > A (Ala) | Synonymous Variant |
| RBFOX2 transcript variant X20 | XM_047441252.1:c.1053A>G | A [GCA] > A [GCG] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 2 isoform X20 | XP_047297208.1:p.Ala351= | A (Ala) > A (Ala) | Synonymous Variant |
| RBFOX2 transcript variant X21 | XM_047441253.1:c.1041A>G | A [GCA] > A [GCG] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 2 isoform X21 | XP_047297209.1:p.Ala347= | A (Ala) > A (Ala) | Synonymous Variant |
| RBFOX2 transcript variant X22 | XM_047441254.1:c.1050A>G | A [GCA] > A [GCG] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 2 isoform X22 | XP_047297210.1:p.Ala350= | A (Ala) > A (Ala) | Synonymous Variant |
| RBFOX2 transcript variant X23 | XM_047441255.1:c.1027A>G | R [AGG] > G [GGG] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 2 isoform X23 | XP_047297211.1:p.Arg343Gly | R (Arg) > G (Gly) | Missense Variant |
| RBFOX2 transcript variant X24 | XM_017028696.2:c.1024A>G | R [AGG] > G [GGG] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 2 isoform X24 | XP_016884185.1:p.Arg342Gly | R (Arg) > G (Gly) | Missense Variant |
| RBFOX2 transcript variant X25 | XM_047441256.1:c.1024A>G | R [AGG] > G [GGG] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 2 isoform X25 | XP_047297212.1:p.Arg342Gly | R (Arg) > G (Gly) | Missense Variant |
| RBFOX2 transcript variant X26 | XM_047441257.1:c.1042A>G | R [AGG] > G [GGG] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 2 isoform X26 | XP_047297213.1:p.Arg348Gly | R (Arg) > G (Gly) | Missense Variant |
| RBFOX2 transcript variant X27 | XM_024452191.2:c.1009A>G | R [AGG] > G [GGG] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 2 isoform X27 | XP_024307959.1:p.Arg337Gly | R (Arg) > G (Gly) | Missense Variant |
| RBFOX2 transcript variant X28 | XM_047441258.1:c.1012A>G | R [AGG] > G [GGG] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 2 isoform X28 | XP_047297214.1:p.Arg338Gly | R (Arg) > G (Gly) | Missense Variant |
| RBFOX2 transcript variant X29 | XM_017028698.2:c.981A>G | A [GCA] > A [GCG] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 2 isoform X29 | XP_016884187.1:p.Ala327= | A (Ala) > A (Ala) | Synonymous Variant |
| RBFOX2 transcript variant X30 | XM_047441259.1:c.972A>G | A [GCA] > A [GCG] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 2 isoform X30 | XP_047297215.1:p.Ala324= | A (Ala) > A (Ala) | Synonymous Variant |
| RBFOX2 transcript variant X31 | XM_047441260.1:c.969A>G | A [GCA] > A [GCG] | Coding Sequence Variant |
| RNA binding protein fox-1 homolog 2 isoform X31 | XP_047297216.1:p.Ala323= | A (Ala) > A (Ala) | Synonymous 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= | C |
|---|---|---|
| GRCh38.p14 chr 22 | NC_000022.11:g.35745988= | NC_000022.11:g.35745988T>C |
| GRCh37.p13 chr 22 | NC_000022.10:g.36142035= | NC_000022.10:g.36142035T>C |
| RBFOX2 RefSeqGene | NG_029628.1:g.287551= | NG_029628.1:g.287551A>G |
| RBFOX2 transcript variant 5 | NM_001082578.4:c.1246= | NM_001082578.4:c.1246A>G |
| RBFOX2 transcript variant 5 | NM_001082578.3:c.1246= | NM_001082578.3:c.1246A>G |
| RBFOX2 transcript variant 5 | NM_001082578.2:c.1246= | NM_001082578.2:c.1246A>G |
| RBFOX2 transcript variant 5 | NM_001082578.1:c.1246= | NM_001082578.1:c.1246A>G |
| RBFOX2 transcript variant 1 | NM_001031695.4:c.1033= | NM_001031695.4:c.1033A>G |
| RBFOX2 transcript variant 1 | NM_001031695.3:c.1033= | NM_001031695.3:c.1033A>G |
| RBFOX2 transcript variant 1 | NM_001031695.2:c.1033= | NM_001031695.2:c.1033A>G |
| RBFOX2 transcript variant 2 | NM_014309.4:c.984= | NM_014309.4:c.984A>G |
| RBFOX2 transcript variant 2 | NM_014309.3:c.984= | NM_014309.3:c.984A>G |
| RBFOX2 transcript variant 2 | NM_014309.2:c.984= | NM_014309.2:c.984A>G |
| RBFOX2 transcript variant 6 | NM_001082579.3:c.1243= | NM_001082579.3:c.1243A>G |
| RBFOX2 transcript variant 6 | NM_001082579.2:c.1243= | NM_001082579.2:c.1243A>G |
| RBFOX2 transcript variant 6 | NM_001082579.1:c.1243= | NM_001082579.1:c.1243A>G |
| RBFOX2 transcript variant 3 | NM_001082576.3:c.1021= | NM_001082576.3:c.1021A>G |
| RBFOX2 transcript variant 3 | NM_001082576.2:c.1021= | NM_001082576.2:c.1021A>G |
| RBFOX2 transcript variant 3 | NM_001082576.1:c.1021= | NM_001082576.1:c.1021A>G |
| RBFOX2 transcript variant 4 | NM_001082577.3:c.993= | NM_001082577.3:c.993A>G |
| RBFOX2 transcript variant 4 | NM_001082577.2:c.993= | NM_001082577.2:c.993A>G |
| RBFOX2 transcript variant 4 | NM_001082577.1:c.993= | NM_001082577.1:c.993A>G |
| RBFOX2 transcript variant 18 | NM_001349999.2:c.1234= | NM_001349999.2:c.1234A>G |
| RBFOX2 transcript variant 18 | NM_001349999.1:c.1234= | NM_001349999.1:c.1234A>G |
| RBFOX2 transcript variant 17 | NM_001349998.2:c.1065= | NM_001349998.2:c.1065A>G |
| RBFOX2 transcript variant 17 | NM_001349998.1:c.1065= | NM_001349998.1:c.1065A>G |
| RBFOX2 transcript variant 7 | NM_001349983.2:c.1053= | NM_001349983.2:c.1053A>G |
| RBFOX2 transcript variant 7 | NM_001349983.1:c.1053= | NM_001349983.1:c.1053A>G |
| RBFOX2 transcript variant 16 | NM_001349997.2:c.1036= | NM_001349997.2:c.1036A>G |
| RBFOX2 transcript variant 16 | NM_001349997.1:c.1036= | NM_001349997.1:c.1036A>G |
| RBFOX2 transcript variant 11 | NM_001349991.2:c.1131= | NM_001349991.2:c.1131A>G |
| RBFOX2 transcript variant 11 | NM_001349991.1:c.1131= | NM_001349991.1:c.1131A>G |
| RBFOX2 transcript variant 8 | NM_001349982.2:c.1119= | NM_001349982.2:c.1119A>G |
| RBFOX2 transcript variant 8 | NM_001349982.1:c.1119= | NM_001349982.1:c.1119A>G |
| RBFOX2 transcript variant 9 | NM_001349989.2:c.1099= | NM_001349989.2:c.1099A>G |
| RBFOX2 transcript variant 9 | NM_001349989.1:c.1099= | NM_001349989.1:c.1099A>G |
| RBFOX2 transcript variant 15 | NM_001349996.2:c.1087= | NM_001349996.2:c.1087A>G |
| RBFOX2 transcript variant 15 | NM_001349996.1:c.1087= | NM_001349996.1:c.1087A>G |
| RBFOX2 transcript variant 10 | NM_001349990.2:c.1087= | NM_001349990.2:c.1087A>G |
| RBFOX2 transcript variant 10 | NM_001349990.1:c.1087= | NM_001349990.1:c.1087A>G |
| RBFOX2 transcript variant 12 | NM_001349992.2:c.1059= | NM_001349992.2:c.1059A>G |
| RBFOX2 transcript variant 12 | NM_001349992.1:c.1059= | NM_001349992.1:c.1059A>G |
| RBFOX2 transcript variant 13 | NM_001349994.2:c.1047= | NM_001349994.2:c.1047A>G |
| RBFOX2 transcript variant 13 | NM_001349994.1:c.1047= | NM_001349994.1:c.1047A>G |
| RBFOX2 transcript variant 14 | NM_001349995.2:c.966= | NM_001349995.2:c.966A>G |
| RBFOX2 transcript variant 14 | NM_001349995.1:c.966= | NM_001349995.1:c.966A>G |
| RBFOX2 transcript variant 24 | NM_001394113.1:c.1231= | NM_001394113.1:c.1231A>G |
| RBFOX2 transcript variant 23 | NM_001394112.1:c.1231= | NM_001394112.1:c.1231A>G |
| RBFOX2 transcript variant 19 | NM_001394108.1:c.1228= | NM_001394108.1:c.1228A>G |
| RBFOX2 transcript variant 25 | NM_001394114.1:c.1194= | NM_001394114.1:c.1194A>G |
| RBFOX2 transcript variant 26 | NM_001394115.1:c.1191= | NM_001394115.1:c.1191A>G |
| RBFOX2 transcript variant 21 | NM_001394110.1:c.1138= | NM_001394110.1:c.1138A>G |
| RBFOX2 transcript variant 20 | NM_001394109.1:c.1138= | NM_001394109.1:c.1138A>G |
| RBFOX2 transcript variant 22 | NM_001394111.1:c.1098= | NM_001394111.1:c.1098A>G |
| GRCh38.p14 chr 22 alt locus HSCHR22_1_CTG4 | NT_187630.1:g.66986= | NT_187630.1:g.66986T>C |
| RBFOX2 transcript variant X11 | XM_006724189.4:c.1134= | XM_006724189.4:c.1134A>G |
| RBFOX2 transcript variant X14 | XM_006724189.3:c.1134= | XM_006724189.3:c.1134A>G |
| RBFOX2 transcript variant X11 | XM_006724189.2:c.1134= | XM_006724189.2:c.1134A>G |
| RBFOX2 transcript variant X15 | XM_006724189.1:c.1134= | XM_006724189.1:c.1134A>G |
| RBFOX2 transcript variant X1 | XM_006724185.3:c.1278= | XM_006724185.3:c.1278A>G |
| RBFOX2 transcript variant X1 | XM_006724185.2:c.1278= | XM_006724185.2:c.1278A>G |
| RBFOX2 transcript variant X11 | XM_006724185.1:c.1278= | XM_006724185.1:c.1278A>G |
| RBFOX2 transcript variant X2 | XM_006724186.3:c.1275= | XM_006724186.3:c.1275A>G |
| RBFOX2 transcript variant X2 | XM_006724186.2:c.1275= | XM_006724186.2:c.1275A>G |
| RBFOX2 transcript variant X12 | XM_006724186.1:c.1275= | XM_006724186.1:c.1275A>G |
| RBFOX2 transcript variant X3 | XM_005261428.3:c.1266= | XM_005261428.3:c.1266A>G |
| RBFOX2 transcript variant X3 | XM_005261428.2:c.1266= | XM_005261428.2:c.1266A>G |
| RBFOX2 transcript variant X1 | XM_005261428.1:c.1266= | XM_005261428.1:c.1266A>G |
| RBFOX2 transcript variant X4 | XM_005261429.3:c.1263= | XM_005261429.3:c.1263A>G |
| RBFOX2 transcript variant X4 | XM_005261429.2:c.1263= | XM_005261429.2:c.1263A>G |
| RBFOX2 transcript variant X2 | XM_005261429.1:c.1263= | XM_005261429.1:c.1263A>G |
| RBFOX2 transcript variant X5 | XM_006724187.3:c.1249= | XM_006724187.3:c.1249A>G |
| RBFOX2 transcript variant X5 | XM_006724187.2:c.1249= | XM_006724187.2:c.1249A>G |
| RBFOX2 transcript variant X13 | XM_006724187.1:c.1249= | XM_006724187.1:c.1249A>G |
| RBFOX2 transcript variant X6 | XM_005261430.3:c.1237= | XM_005261430.3:c.1237A>G |
| RBFOX2 transcript variant X7 | XM_005261430.2:c.1237= | XM_005261430.2:c.1237A>G |
| RBFOX2 transcript variant X3 | XM_005261430.1:c.1237= | XM_005261430.1:c.1237A>G |
| RBFOX2 transcript variant X8 | XM_006724188.3:c.1206= | XM_006724188.3:c.1206A>G |
| RBFOX2 transcript variant X9 | XM_006724188.2:c.1206= | XM_006724188.2:c.1206A>G |
| RBFOX2 transcript variant X14 | XM_006724188.1:c.1206= | XM_006724188.1:c.1206A>G |
| RBFOX2 transcript variant X9 | XM_017028687.3:c.1200= | XM_017028687.3:c.1200A>G |
| RBFOX2 transcript variant X10 | XM_017028687.2:c.1200= | XM_017028687.2:c.1200A>G |
| RBFOX2 transcript variant X11 | XM_017028687.1:c.1200= | XM_017028687.1:c.1200A>G |
| RBFOX2 transcript variant X18 | XM_006724192.3:c.1056= | XM_006724192.3:c.1056A>G |
| RBFOX2 transcript variant X18 | XM_006724192.2:c.1056= | XM_006724192.2:c.1056A>G |
| RBFOX2 transcript variant X18 | XM_006724192.1:c.1056= | XM_006724192.1:c.1056A>G |
| RBFOX2 transcript variant X13 | XM_017028690.2:c.1086= | XM_017028690.2:c.1086A>G |
| RBFOX2 transcript variant X15 | XM_017028690.1:c.1086= | XM_017028690.1:c.1086A>G |
| RBFOX2 transcript variant X14 | XM_017028691.2:c.1083= | XM_017028691.2:c.1083A>G |
| RBFOX2 transcript variant X16 | XM_017028691.1:c.1083= | XM_017028691.1:c.1083A>G |
| RBFOX2 transcript variant X15 | XM_006724191.2:c.1068= | XM_006724191.2:c.1068A>G |
| RBFOX2 transcript variant X17 | XM_006724191.1:c.1068= | XM_006724191.1:c.1068A>G |
| RBFOX2 transcript variant X17 | XM_017028693.2:c.1056= | XM_017028693.2:c.1056A>G |
| RBFOX2 transcript variant X19 | XM_017028693.1:c.1056= | XM_017028693.1:c.1056A>G |
| RBFOX2 transcript variant X24 | XM_017028696.2:c.1024= | XM_017028696.2:c.1024A>G |
| RBFOX2 transcript variant X21 | XM_017028696.1:c.1024= | XM_017028696.1:c.1024A>G |
| RBFOX2 transcript variant X27 | XM_024452191.2:c.1009= | XM_024452191.2:c.1009A>G |
| RBFOX2 transcript variant X26 | XM_024452191.1:c.1009= | XM_024452191.1:c.1009A>G |
| RBFOX2 transcript variant X29 | XM_017028698.2:c.981= | XM_017028698.2:c.981A>G |
| RBFOX2 transcript variant X28 | XM_017028698.1:c.981= | XM_017028698.1:c.981A>G |
| RBFOX2 transcript variant X10 | XM_024452188.2:c.1197= | XM_024452188.2:c.1197A>G |
| RBFOX2 transcript variant X11 | XM_024452188.1:c.1197= | XM_024452188.1:c.1197A>G |
| RBFOX2 transcript variant X20 | XM_047441252.1:c.1053= | XM_047441252.1:c.1053A>G |
| RBFOX2 transcript variant X25 | XM_047441256.1:c.1024= | XM_047441256.1:c.1024A>G |
| RBFOX2 transcript variant X21 | XM_047441253.1:c.1041= | XM_047441253.1:c.1041A>G |
| RBFOX2 transcript variant X28 | XM_047441258.1:c.1012= | XM_047441258.1:c.1012A>G |
| RBFOX2 transcript variant X12 | XM_047441250.1:c.1122= | XM_047441250.1:c.1122A>G |
| RBFOX2 transcript variant X7 | XM_017028686.1:c.1104= | XM_017028686.1:c.1104A>G |
| RBFOX2 transcript variant X22 | XM_047441254.1:c.1050= | XM_047441254.1:c.1050A>G |
| RBFOX2 transcript variant X26 | XM_047441257.1:c.1042= | XM_047441257.1:c.1042A>G |
| RBFOX2 transcript variant X23 | XM_047441255.1:c.1027= | XM_047441255.1:c.1027A>G |
| RBFOX2 transcript variant X31 | XM_047441260.1:c.969= | XM_047441260.1:c.969A>G |
| RBFOX2 transcript variant X16 | XM_047441251.1:c.1090= | XM_047441251.1:c.1090A>G |
| RBFOX2 transcript variant X30 | XM_047441259.1:c.972= | XM_047441259.1:c.972A>G |
| RNA binding protein fox-1 homolog 2 isoform 5 | NP_001076047.2:p.Arg416= | NP_001076047.2:p.Arg416Gly |
| RNA binding protein fox-1 homolog 2 isoform 1 | NP_001026865.1:p.Arg345= | NP_001026865.1:p.Arg345Gly |
| RNA binding protein fox-1 homolog 2 isoform 2 | NP_055124.1:p.Ala328= | NP_055124.1:p.Ala328= |
| RNA binding protein fox-1 homolog 2 isoform 6 | NP_001076048.2:p.Arg415= | NP_001076048.2:p.Arg415Gly |
| RNA binding protein fox-1 homolog 2 isoform 3 | NP_001076045.1:p.Arg341= | NP_001076045.1:p.Arg341Gly |
| RNA binding protein fox-1 homolog 2 isoform 4 | NP_001076046.1:p.Ala331= | NP_001076046.1:p.Ala331= |
| RNA binding protein fox-1 homolog 2 isoform 18 | NP_001336928.2:p.Arg412= | NP_001336928.2:p.Arg412Gly |
| RNA binding protein fox-1 homolog 2 isoform 17 | NP_001336927.1:p.Ala355= | NP_001336927.1:p.Ala355= |
| RNA binding protein fox-1 homolog 2 isoform 7 | NP_001336912.1:p.Ala351= | NP_001336912.1:p.Ala351= |
| RNA binding protein fox-1 homolog 2 isoform 16 | NP_001336926.1:p.Arg346= | NP_001336926.1:p.Arg346Gly |
| RNA binding protein fox-1 homolog 2 isoform 11 | NP_001336920.1:p.Ala377= | NP_001336920.1:p.Ala377= |
| RNA binding protein fox-1 homolog 2 isoform 8 | NP_001336911.1:p.Ala373= | NP_001336911.1:p.Ala373= |
| RNA binding protein fox-1 homolog 2 isoform 9 | NP_001336918.1:p.Arg367= | NP_001336918.1:p.Arg367Gly |
| RNA binding protein fox-1 homolog 2 isoform 15 | NP_001336925.1:p.Arg363= | NP_001336925.1:p.Arg363Gly |
| RNA binding protein fox-1 homolog 2 isoform 10 | NP_001336919.1:p.Arg363= | NP_001336919.1:p.Arg363Gly |
| RNA binding protein fox-1 homolog 2 isoform 12 | NP_001336921.1:p.Ala353= | NP_001336921.1:p.Ala353= |
| RNA binding protein fox-1 homolog 2 isoform 13 | NP_001336923.1:p.Ala349= | NP_001336923.1:p.Ala349= |
| RNA binding protein fox-1 homolog 2 isoform 14 | NP_001336924.1:p.Ala322= | NP_001336924.1:p.Ala322= |
| RNA binding protein fox-1 homolog 2 isoform 24 | NP_001381042.1:p.Arg411= | NP_001381042.1:p.Arg411Gly |
| RNA binding protein fox-1 homolog 2 isoform 23 | NP_001381041.1:p.Arg411= | NP_001381041.1:p.Arg411Gly |
| RNA binding protein fox-1 homolog 2 isoform 19 | NP_001381037.1:p.Arg410= | NP_001381037.1:p.Arg410Gly |
| RNA binding protein fox-1 homolog 2 isoform 25 | NP_001381043.1:p.Ala398= | NP_001381043.1:p.Ala398= |
| RNA binding protein fox-1 homolog 2 isoform 26 | NP_001381044.1:p.Ala397= | NP_001381044.1:p.Ala397= |
| RNA binding protein fox-1 homolog 2 isoform 21 | NP_001381039.1:p.Arg380= | NP_001381039.1:p.Arg380Gly |
| RNA binding protein fox-1 homolog 2 isoform 20 | NP_001381038.1:p.Arg380= | NP_001381038.1:p.Arg380Gly |
| RNA binding protein fox-1 homolog 2 isoform 22 | NP_001381040.1:p.Ala366= | NP_001381040.1:p.Ala366= |
| RNA binding protein fox-1 homolog 2 isoform X11 | XP_006724252.1:p.Ala378= | XP_006724252.1:p.Ala378= |
| RNA binding protein fox-1 homolog 2 isoform X1 | XP_006724248.1:p.Ala426= | XP_006724248.1:p.Ala426= |
| RNA binding protein fox-1 homolog 2 isoform X2 | XP_006724249.1:p.Ala425= | XP_006724249.1:p.Ala425= |
| RNA binding protein fox-1 homolog 2 isoform X3 | XP_005261485.1:p.Ala422= | XP_005261485.1:p.Ala422= |
| RNA binding protein fox-1 homolog 2 isoform X4 | XP_005261486.1:p.Ala421= | XP_005261486.1:p.Ala421= |
| RNA binding protein fox-1 homolog 2 isoform X5 | XP_006724250.1:p.Arg417= | XP_006724250.1:p.Arg417Gly |
| RNA binding protein fox-1 homolog 2 isoform X6 | XP_005261487.1:p.Arg413= | XP_005261487.1:p.Arg413Gly |
| RNA binding protein fox-1 homolog 2 isoform X8 | XP_006724251.1:p.Ala402= | XP_006724251.1:p.Ala402= |
| RNA binding protein fox-1 homolog 2 isoform X9 | XP_016884176.1:p.Ala400= | XP_016884176.1:p.Ala400= |
| RNA binding protein fox-1 homolog 2 isoform X18 | XP_006724255.1:p.Ala352= | XP_006724255.1:p.Ala352= |
| RNA binding protein fox-1 homolog 2 isoform X13 | XP_016884179.1:p.Ala362= | XP_016884179.1:p.Ala362= |
| RNA binding protein fox-1 homolog 2 isoform X14 | XP_016884180.1:p.Ala361= | XP_016884180.1:p.Ala361= |
| RNA binding protein fox-1 homolog 2 isoform X15 | XP_006724254.1:p.Ala356= | XP_006724254.1:p.Ala356= |
| RNA binding protein fox-1 homolog 2 isoform X17 | XP_016884182.1:p.Ala352= | XP_016884182.1:p.Ala352= |
| RNA binding protein fox-1 homolog 2 isoform X24 | XP_016884185.1:p.Arg342= | XP_016884185.1:p.Arg342Gly |
| RNA binding protein fox-1 homolog 2 isoform X27 | XP_024307959.1:p.Arg337= | XP_024307959.1:p.Arg337Gly |
| RNA binding protein fox-1 homolog 2 isoform X29 | XP_016884187.1:p.Ala327= | XP_016884187.1:p.Ala327= |
| RNA binding protein fox-1 homolog 2 isoform X10 | XP_024307956.1:p.Ala399= | XP_024307956.1:p.Ala399= |
| RNA binding protein fox-1 homolog 2 isoform X20 | XP_047297208.1:p.Ala351= | XP_047297208.1:p.Ala351= |
| RNA binding protein fox-1 homolog 2 isoform X25 | XP_047297212.1:p.Arg342= | XP_047297212.1:p.Arg342Gly |
| RNA binding protein fox-1 homolog 2 isoform X21 | XP_047297209.1:p.Ala347= | XP_047297209.1:p.Ala347= |
| RNA binding protein fox-1 homolog 2 isoform X28 | XP_047297214.1:p.Arg338= | XP_047297214.1:p.Arg338Gly |
| RNA binding protein fox-1 homolog 2 isoform X12 | XP_047297206.1:p.Ala374= | XP_047297206.1:p.Ala374= |
| RNA binding protein fox-1 homolog 2 isoform X7 | XP_016884175.1:p.Ala368= | XP_016884175.1:p.Ala368= |
| RNA binding protein fox-1 homolog 2 isoform X22 | XP_047297210.1:p.Ala350= | XP_047297210.1:p.Ala350= |
| RNA binding protein fox-1 homolog 2 isoform X26 | XP_047297213.1:p.Arg348= | XP_047297213.1:p.Arg348Gly |
| RNA binding protein fox-1 homolog 2 isoform X23 | XP_047297211.1:p.Arg343= | XP_047297211.1:p.Arg343Gly |
| RNA binding protein fox-1 homolog 2 isoform X31 | XP_047297216.1:p.Ala323= | XP_047297216.1:p.Ala323= |
| RNA binding protein fox-1 homolog 2 isoform X16 | XP_047297207.1:p.Arg364= | XP_047297207.1:p.Arg364Gly |
| RNA binding protein fox-1 homolog 2 isoform X30 | XP_047297215.1:p.Ala324= | XP_047297215.1:p.Ala324= |
| RNA binding protein fox-1 homolog 2 isoform 5 | NP_001076047.1:p.Arg416= | NP_001076047.1:p.Arg416Gly |
| RNA binding protein fox-1 homolog 2 isoform 6 | NP_001076048.1:p.Arg415= | NP_001076048.1:p.Arg415Gly |
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#.
1 SubSNP,
2 Frequency
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | GNOMAD | ss2745107632 | Nov 08, 2017 (151) |
| 2 | gnomAD - Exomes | NC_000022.10 - 36142035 | Jul 13, 2019 (153) |
| 3 | ALFA | NC_000022.11 - 35745988 | 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).
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
No publications for rs1476245694
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.
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.