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.
rs1480864597
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr1:59660235 (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=0.000007 (1/140282, GnomAD)C=0.00000 (0/10680, ALFA)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- FGGY : 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 | 10680 | T=1.00000 | C=0.00000 | 1.0 | 0.0 | 0.0 | N/A |
| European | Sub | 6962 | T=1.0000 | C=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| African | Sub | 2294 | T=1.0000 | C=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| African Others | Sub | 84 | T=1.00 | C=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| African American | Sub | 2210 | T=1.0000 | C=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| Asian | Sub | 108 | T=1.000 | C=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| East Asian | Sub | 84 | T=1.00 | C=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Other Asian | Sub | 24 | T=1.00 | C=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 1 | Sub | 146 | T=1.000 | C=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 2 | Sub | 610 | T=1.000 | C=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| South Asian | Sub | 94 | T=1.00 | C=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Other | Sub | 466 | T=1.000 | C=0.000 | 1.0 | 0.0 | 0.0 | N/A |
Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").
Download| Study | Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| gnomAD - Genomes | Global | Study-wide | 140282 | T=0.999993 | C=0.000007 |
| gnomAD - Genomes | European | Sub | 75962 | T=1.00000 | C=0.00000 |
| gnomAD - Genomes | African | Sub | 42058 | T=1.00000 | C=0.00000 |
| gnomAD - Genomes | American | Sub | 13660 | T=0.99993 | C=0.00007 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3320 | T=1.0000 | C=0.0000 |
| gnomAD - Genomes | East Asian | Sub | 3132 | T=1.0000 | C=0.0000 |
| gnomAD - Genomes | Other | Sub | 2150 | T=1.0000 | C=0.0000 |
| Allele Frequency Aggregator | Total | Global | 10680 | T=1.00000 | C=0.00000 |
| Allele Frequency Aggregator | European | Sub | 6962 | T=1.0000 | C=0.0000 |
| Allele Frequency Aggregator | African | Sub | 2294 | T=1.0000 | C=0.0000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 610 | T=1.000 | C=0.000 |
| Allele Frequency Aggregator | Other | Sub | 466 | T=1.000 | C=0.000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 146 | T=1.000 | C=0.000 |
| Allele Frequency Aggregator | Asian | Sub | 108 | T=1.000 | C=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 94 | T=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 1 | NC_000001.11:g.59660235T>C |
| GRCh37.p13 chr 1 | NC_000001.10:g.60125907T>C |
| FGGY RefSeqGene | NG_030039.1:g.368283T>C |
Gene: FGGY, FGGY carbohydrate kinase domain containing
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| FGGY transcript variant 15 | NM_001350799.2:c.902T>C | L [CTG] > P [CCG] | Coding Sequence Variant |
| FGGY carbohydrate kinase domain-containing protein isoform k | NP_001337728.1:p.Leu301Pro | L (Leu) > P (Pro) | Missense Variant |
| FGGY transcript variant 7 | NM_001350791.2:c.1238T>C | L [CTG] > P [CCG] | Coding Sequence Variant |
| FGGY carbohydrate kinase domain-containing protein isoform b | NP_001337720.1:p.Leu413Pro | L (Leu) > P (Pro) | Missense Variant |
| FGGY transcript variant 4 | NM_001278224.2:c.341T>C | L [CTG] > P [CCG] | Coding Sequence Variant |
| FGGY carbohydrate kinase domain-containing protein isoform d | NP_001265153.1:p.Leu114Pro | L (Leu) > P (Pro) | Missense Variant |
| FGGY transcript variant 3 | NM_001244714.2:c.974T>C | L [CTG] > P [CCG] | Coding Sequence Variant |
| FGGY carbohydrate kinase domain-containing protein isoform c | NP_001231643.1:p.Leu325Pro | L (Leu) > P (Pro) | Missense Variant |
| FGGY transcript variant 6 | NM_001350790.2:c.1310T>C | L [CTG] > P [CCG] | Coding Sequence Variant |
| FGGY carbohydrate kinase domain-containing protein isoform a | NP_001337719.1:p.Leu437Pro | L (Leu) > P (Pro) | Missense Variant |
| FGGY transcript variant 9 | NM_001350793.2:c.1070T>C | L [CTG] > P [CCG] | Coding Sequence Variant |
| FGGY carbohydrate kinase domain-containing protein isoform e | NP_001337722.1:p.Leu357Pro | L (Leu) > P (Pro) | Missense Variant |
| FGGY transcript variant 13 | NM_001350797.2:c.836T>C | L [CTG] > P [CCG] | Coding Sequence Variant |
| FGGY carbohydrate kinase domain-containing protein isoform i | NP_001337726.1:p.Leu279Pro | L (Leu) > P (Pro) | Missense Variant |
| FGGY transcript variant 12 | NM_001350796.2:c.902T>C | L [CTG] > P [CCG] | Coding Sequence Variant |
| FGGY carbohydrate kinase domain-containing protein isoform h | NP_001337725.1:p.Leu301Pro | L (Leu) > P (Pro) | Missense Variant |
| FGGY transcript variant 1 | NM_001113411.2:c.1310T>C | L [CTG] > P [CCG] | Coding Sequence Variant |
| FGGY carbohydrate kinase domain-containing protein isoform a | NP_001106882.1:p.Leu437Pro | L (Leu) > P (Pro) | Missense Variant |
| FGGY transcript variant 11 | NM_001350795.2:c.1046T>C | L [CTG] > P [CCG] | Coding Sequence Variant |
| FGGY carbohydrate kinase domain-containing protein isoform g | NP_001337724.1:p.Leu349Pro | L (Leu) > P (Pro) | Missense Variant |
| FGGY transcript variant 10 | NM_001350794.2:c.1238T>C | L [CTG] > P [CCG] | Coding Sequence Variant |
| FGGY carbohydrate kinase domain-containing protein isoform f | NP_001337723.1:p.Leu413Pro | L (Leu) > P (Pro) | Missense Variant |
| FGGY transcript variant 14 | NM_001350798.2:c.974T>C | L [CTG] > P [CCG] | Coding Sequence Variant |
| FGGY carbohydrate kinase domain-containing protein isoform j | NP_001337727.1:p.Leu325Pro | L (Leu) > P (Pro) | Missense Variant |
| FGGY transcript variant 8 | NM_001350792.2:c.1070T>C | L [CTG] > P [CCG] | Coding Sequence Variant |
| FGGY carbohydrate kinase domain-containing protein isoform e | NP_001337721.1:p.Leu357Pro | L (Leu) > P (Pro) | Missense Variant |
| FGGY transcript variant 2 | NM_018291.5:c.1238T>C | L [CTG] > P [CCG] | Coding Sequence Variant |
| FGGY carbohydrate kinase domain-containing protein isoform b | NP_060761.3:p.Leu413Pro | L (Leu) > P (Pro) | Missense Variant |
| FGGY transcript variant 5 | NR_103473.2:n.1326T>C | N/A | Non Coding Transcript Variant |
| FGGY transcript variant X42 | XM_017001679.2:c.*4= | N/A | 3 Prime UTR Variant |
| FGGY transcript variant X28 | XM_017001668.1:c.908T>C | L [CTG] > P [CCG] | Coding Sequence Variant |
| FGGY carbohydrate kinase domain-containing protein isoform X9 | XP_016857157.1:p.Leu303Pro | L (Leu) > P (Pro) | Missense Variant |
| FGGY transcript variant X1 | XM_047424380.1:c.1310T>C | L [CTG] > P [CCG] | Coding Sequence Variant |
| FGGY carbohydrate kinase domain-containing protein isoform X1 | XP_047280336.1:p.Leu437Pro | L (Leu) > P (Pro) | Missense Variant |
| FGGY transcript variant X2 | XM_011541730.2:c.1310T>C | L [CTG] > P [CCG] | Coding Sequence Variant |
| FGGY carbohydrate kinase domain-containing protein isoform X1 | XP_011540032.1:p.Leu437Pro | L (Leu) > P (Pro) | Missense Variant |
| FGGY transcript variant X3 | XM_047424381.1:c.1310T>C | L [CTG] > P [CCG] | Coding Sequence Variant |
| FGGY carbohydrate kinase domain-containing protein isoform X1 | XP_047280337.1:p.Leu437Pro | L (Leu) > P (Pro) | Missense Variant |
| FGGY transcript variant X4 | XM_011541731.2:c.1310T>C | L [CTG] > P [CCG] | Coding Sequence Variant |
| FGGY carbohydrate kinase domain-containing protein isoform X1 | XP_011540033.1:p.Leu437Pro | L (Leu) > P (Pro) | Missense Variant |
| FGGY transcript variant X5 | XM_047424382.1:c.1310T>C | L [CTG] > P [CCG] | Coding Sequence Variant |
| FGGY carbohydrate kinase domain-containing protein isoform X1 | XP_047280338.1:p.Leu437Pro | L (Leu) > P (Pro) | Missense Variant |
| FGGY transcript variant X6 | XM_024448176.2:c.1310T>C | L [CTG] > P [CCG] | Coding Sequence Variant |
| FGGY carbohydrate kinase domain-containing protein isoform X1 | XP_024303944.1:p.Leu437Pro | L (Leu) > P (Pro) | Missense Variant |
| FGGY transcript variant X7 | XM_047424383.1:c.1310T>C | L [CTG] > P [CCG] | Coding Sequence Variant |
| FGGY carbohydrate kinase domain-containing protein isoform X1 | XP_047280339.1:p.Leu437Pro | L (Leu) > P (Pro) | Missense Variant |
| FGGY transcript variant X8 | XM_047424384.1:c.1310T>C | L [CTG] > P [CCG] | Coding Sequence Variant |
| FGGY carbohydrate kinase domain-containing protein isoform X1 | XP_047280340.1:p.Leu437Pro | L (Leu) > P (Pro) | Missense Variant |
| FGGY transcript variant X9 | XM_017001643.3:c.1310T>C | L [CTG] > P [CCG] | Coding Sequence Variant |
| FGGY carbohydrate kinase domain-containing protein isoform X1 | XP_016857132.1:p.Leu437Pro | L (Leu) > P (Pro) | Missense Variant |
| FGGY transcript variant X10 | XM_047424385.1:c.1310T>C | L [CTG] > P [CCG] | Coding Sequence Variant |
| FGGY carbohydrate kinase domain-containing protein isoform X1 | XP_047280341.1:p.Leu437Pro | L (Leu) > P (Pro) | Missense Variant |
| FGGY transcript variant X11 | XM_017001645.2:c.1238T>C | L [CTG] > P [CCG] | Coding Sequence Variant |
| FGGY carbohydrate kinase domain-containing protein isoform X2 | XP_016857134.1:p.Leu413Pro | L (Leu) > P (Pro) | Missense Variant |
| FGGY transcript variant X12 | XM_047424386.1:c.1238T>C | L [CTG] > P [CCG] | Coding Sequence Variant |
| FGGY carbohydrate kinase domain-containing protein isoform X2 | XP_047280342.1:p.Leu413Pro | L (Leu) > P (Pro) | Missense Variant |
| FGGY transcript variant X13 | XM_017001646.2:c.1238T>C | L [CTG] > P [CCG] | Coding Sequence Variant |
| FGGY carbohydrate kinase domain-containing protein isoform X2 | XP_016857135.1:p.Leu413Pro | L (Leu) > P (Pro) | Missense Variant |
| FGGY transcript variant X14 | XM_047424387.1:c.1238T>C | L [CTG] > P [CCG] | Coding Sequence Variant |
| FGGY carbohydrate kinase domain-containing protein isoform X2 | XP_047280343.1:p.Leu413Pro | L (Leu) > P (Pro) | Missense Variant |
| FGGY transcript variant X15 | XM_047424388.1:c.1238T>C | L [CTG] > P [CCG] | Coding Sequence Variant |
| FGGY carbohydrate kinase domain-containing protein isoform X2 | XP_047280344.1:p.Leu413Pro | L (Leu) > P (Pro) | Missense Variant |
| FGGY transcript variant X16 | XM_047424389.1:c.1142T>C | L [CTG] > P [CCG] | Coding Sequence Variant |
| FGGY carbohydrate kinase domain-containing protein isoform X3 | XP_047280345.1:p.Leu381Pro | L (Leu) > P (Pro) | Missense Variant |
| FGGY transcript variant X17 | XM_017001649.2:c.1310T>C | L [CTG] > P [CCG] | Coding Sequence Variant |
| FGGY carbohydrate kinase domain-containing protein isoform X4 | XP_016857138.1:p.Leu437Pro | L (Leu) > P (Pro) | Missense Variant |
| FGGY transcript variant X18 | XM_017001652.2:c.1238T>C | L [CTG] > P [CCG] | Coding Sequence Variant |
| FGGY carbohydrate kinase domain-containing protein isoform X5 | XP_016857141.1:p.Leu413Pro | L (Leu) > P (Pro) | Missense Variant |
| FGGY transcript variant X19 | XM_017001655.2:c.1046T>C | L [CTG] > P [CCG] | Coding Sequence Variant |
| FGGY carbohydrate kinase domain-containing protein isoform X6 | XP_016857144.1:p.Leu349Pro | L (Leu) > P (Pro) | Missense Variant |
| FGGY transcript variant X20 | XM_011541736.4:c.1046T>C | L [CTG] > P [CCG] | Coding Sequence Variant |
| FGGY carbohydrate kinase domain-containing protein isoform X6 | XP_011540038.1:p.Leu349Pro | L (Leu) > P (Pro) | Missense Variant |
| FGGY transcript variant X21 | XM_047424390.1:c.974T>C | L [CTG] > P [CCG] | Coding Sequence Variant |
| FGGY carbohydrate kinase domain-containing protein isoform X7 | XP_047280346.1:p.Leu325Pro | L (Leu) > P (Pro) | Missense Variant |
| FGGY transcript variant X22 | XM_047424391.1:c.974T>C | L [CTG] > P [CCG] | Coding Sequence Variant |
| FGGY carbohydrate kinase domain-containing protein isoform X7 | XP_047280347.1:p.Leu325Pro | L (Leu) > P (Pro) | Missense Variant |
| FGGY transcript variant X23 | XM_017001662.3:c.974T>C | L [CTG] > P [CCG] | Coding Sequence Variant |
| FGGY carbohydrate kinase domain-containing protein isoform X8 | XP_016857151.1:p.Leu325Pro | L (Leu) > P (Pro) | Missense Variant |
| FGGY transcript variant X24 | XM_047424392.1:c.974T>C | L [CTG] > P [CCG] | Coding Sequence Variant |
| FGGY carbohydrate kinase domain-containing protein isoform X8 | XP_047280348.1:p.Leu325Pro | L (Leu) > P (Pro) | Missense Variant |
| FGGY transcript variant X25 | XM_017001664.3:c.974T>C | L [CTG] > P [CCG] | Coding Sequence Variant |
| FGGY carbohydrate kinase domain-containing protein isoform X8 | XP_016857153.1:p.Leu325Pro | L (Leu) > P (Pro) | Missense Variant |
| FGGY transcript variant X26 | XM_047424393.1:c.974T>C | L [CTG] > P [CCG] | Coding Sequence Variant |
| FGGY carbohydrate kinase domain-containing protein isoform X8 | XP_047280349.1:p.Leu325Pro | L (Leu) > P (Pro) | Missense Variant |
| FGGY transcript variant X27 | XM_047424394.1:c.908T>C | L [CTG] > P [CCG] | Coding Sequence Variant |
| FGGY carbohydrate kinase domain-containing protein isoform X9 | XP_047280350.1:p.Leu303Pro | L (Leu) > P (Pro) | Missense Variant |
| FGGY transcript variant X29 | XM_047424395.1:c.908T>C | L [CTG] > P [CCG] | Coding Sequence Variant |
| FGGY carbohydrate kinase domain-containing protein isoform X9 | XP_047280351.1:p.Leu303Pro | L (Leu) > P (Pro) | Missense Variant |
| FGGY transcript variant X30 | XM_047424396.1:c.908T>C | L [CTG] > P [CCG] | Coding Sequence Variant |
| FGGY carbohydrate kinase domain-containing protein isoform X9 | XP_047280352.1:p.Leu303Pro | L (Leu) > P (Pro) | Missense Variant |
| FGGY transcript variant X31 | XM_017001669.3:c.908T>C | L [CTG] > P [CCG] | Coding Sequence Variant |
| FGGY carbohydrate kinase domain-containing protein isoform X9 | XP_016857158.1:p.Leu303Pro | L (Leu) > P (Pro) | Missense Variant |
| FGGY transcript variant X32 | XM_017001670.3:c.908T>C | L [CTG] > P [CCG] | Coding Sequence Variant |
| FGGY carbohydrate kinase domain-containing protein isoform X9 | XP_016857159.1:p.Leu303Pro | L (Leu) > P (Pro) | Missense Variant |
| FGGY transcript variant X33 | XM_017001671.2:c.908T>C | L [CTG] > P [CCG] | Coding Sequence Variant |
| FGGY carbohydrate kinase domain-containing protein isoform X9 | XP_016857160.1:p.Leu303Pro | L (Leu) > P (Pro) | Missense Variant |
| FGGY transcript variant X34 | XM_047424397.1:c.908T>C | L [CTG] > P [CCG] | Coding Sequence Variant |
| FGGY carbohydrate kinase domain-containing protein isoform X9 | XP_047280353.1:p.Leu303Pro | L (Leu) > P (Pro) | Missense Variant |
| FGGY transcript variant X35 | XM_047424398.1:c.836T>C | L [CTG] > P [CCG] | Coding Sequence Variant |
| FGGY carbohydrate kinase domain-containing protein isoform X10 | XP_047280354.1:p.Leu279Pro | L (Leu) > P (Pro) | Missense Variant |
| FGGY transcript variant X36 | XM_017001678.2:c.686T>C | L [CTG] > P [CCG] | Coding Sequence Variant |
| FGGY carbohydrate kinase domain-containing protein isoform X11 | XP_016857167.1:p.Leu229Pro | L (Leu) > P (Pro) | Missense Variant |
| FGGY transcript variant X37 | XM_047424399.1:c.686T>C | L [CTG] > P [CCG] | Coding Sequence Variant |
| FGGY carbohydrate kinase domain-containing protein isoform X11 | XP_047280355.1:p.Leu229Pro | L (Leu) > P (Pro) | Missense Variant |
| FGGY transcript variant X38 | XM_017001677.2:c.686T>C | L [CTG] > P [CCG] | Coding Sequence Variant |
| FGGY carbohydrate kinase domain-containing protein isoform X11 | XP_016857166.1:p.Leu229Pro | L (Leu) > P (Pro) | Missense Variant |
| FGGY transcript variant X39 | XM_047424400.1:c.686T>C | L [CTG] > P [CCG] | Coding Sequence Variant |
| FGGY carbohydrate kinase domain-containing protein isoform X11 | XP_047280356.1:p.Leu229Pro | L (Leu) > P (Pro) | Missense Variant |
| FGGY transcript variant X43 | XM_047424401.1:c.653T>C | L [CTG] > P [CCG] | Coding Sequence Variant |
| FGGY carbohydrate kinase domain-containing protein isoform X13 | XP_047280357.1:p.Leu218Pro | L (Leu) > P (Pro) | Missense Variant |
| FGGY transcript variant X44 | XM_024448229.2:c.614T>C | L [CTG] > P [CCG] | Coding Sequence Variant |
| FGGY carbohydrate kinase domain-containing protein isoform X14 | XP_024303997.1:p.Leu205Pro | L (Leu) > P (Pro) | Missense Variant |
| FGGY transcript variant X40 | XR_007061929.1:n.1199T>C | N/A | Non Coding Transcript Variant |
| FGGY transcript variant X41 | XR_007061930.1:n.1249T>C | N/A | Non Coding 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
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 1 | NC_000001.11:g.59660235= | NC_000001.11:g.59660235T>C |
| GRCh37.p13 chr 1 | NC_000001.10:g.60125907= | NC_000001.10:g.60125907T>C |
| FGGY RefSeqGene | NG_030039.1:g.368283= | NG_030039.1:g.368283T>C |
| FGGY transcript variant 2 | NM_018291.5:c.1238= | NM_018291.5:c.1238T>C |
| FGGY transcript variant 2 | NM_018291.4:c.1238= | NM_018291.4:c.1238T>C |
| FGGY transcript variant 2 | NM_018291.3:c.1238= | NM_018291.3:c.1238T>C |
| FGGY transcript variant 5 | NR_103473.2:n.1326= | NR_103473.2:n.1326T>C |
| FGGY transcript variant 5 | NR_103473.1:n.1408= | NR_103473.1:n.1408T>C |
| FGGY transcript variant 8 | NM_001350792.2:c.1070= | NM_001350792.2:c.1070T>C |
| FGGY transcript variant 8 | NM_001350792.1:c.1070= | NM_001350792.1:c.1070T>C |
| FGGY transcript variant 9 | NM_001350793.2:c.1070= | NM_001350793.2:c.1070T>C |
| FGGY transcript variant 9 | NM_001350793.1:c.1070= | NM_001350793.1:c.1070T>C |
| FGGY transcript variant 6 | NM_001350790.2:c.1310= | NM_001350790.2:c.1310T>C |
| FGGY transcript variant 6 | NM_001350790.1:c.1310= | NM_001350790.1:c.1310T>C |
| FGGY transcript variant 7 | NM_001350791.2:c.1238= | NM_001350791.2:c.1238T>C |
| FGGY transcript variant 7 | NM_001350791.1:c.1238= | NM_001350791.1:c.1238T>C |
| FGGY transcript variant 1 | NM_001113411.2:c.1310= | NM_001113411.2:c.1310T>C |
| FGGY transcript variant 1 | NM_001113411.1:c.1310= | NM_001113411.1:c.1310T>C |
| FGGY transcript variant 10 | NM_001350794.2:c.1238= | NM_001350794.2:c.1238T>C |
| FGGY transcript variant 10 | NM_001350794.1:c.1238= | NM_001350794.1:c.1238T>C |
| FGGY transcript variant 13 | NM_001350797.2:c.836= | NM_001350797.2:c.836T>C |
| FGGY transcript variant 13 | NM_001350797.1:c.836= | NM_001350797.1:c.836T>C |
| FGGY transcript variant 15 | NM_001350799.2:c.902= | NM_001350799.2:c.902T>C |
| FGGY transcript variant 15 | NM_001350799.1:c.902= | NM_001350799.1:c.902T>C |
| FGGY transcript variant 3 | NM_001244714.2:c.974= | NM_001244714.2:c.974T>C |
| FGGY transcript variant 3 | NM_001244714.1:c.974= | NM_001244714.1:c.974T>C |
| FGGY transcript variant 12 | NM_001350796.2:c.902= | NM_001350796.2:c.902T>C |
| FGGY transcript variant 12 | NM_001350796.1:c.902= | NM_001350796.1:c.902T>C |
| FGGY transcript variant 11 | NM_001350795.2:c.1046= | NM_001350795.2:c.1046T>C |
| FGGY transcript variant 11 | NM_001350795.1:c.1046= | NM_001350795.1:c.1046T>C |
| FGGY transcript variant 14 | NM_001350798.2:c.974= | NM_001350798.2:c.974T>C |
| FGGY transcript variant 14 | NM_001350798.1:c.974= | NM_001350798.1:c.974T>C |
| FGGY transcript variant 4 | NM_001278224.2:c.341= | NM_001278224.2:c.341T>C |
| FGGY transcript variant 4 | NM_001278224.1:c.341= | NM_001278224.1:c.341T>C |
| FGGY transcript variant X20 | XM_011541736.4:c.1046= | XM_011541736.4:c.1046T>C |
| FGGY transcript variant X13 | XM_011541736.3:c.1046= | XM_011541736.3:c.1046T>C |
| FGGY transcript variant X19 | XM_011541736.2:c.1046= | XM_011541736.2:c.1046T>C |
| FGGY transcript variant X9 | XM_011541736.1:c.1046= | XM_011541736.1:c.1046T>C |
| FGGY transcript variant X32 | XM_017001670.3:c.908= | XM_017001670.3:c.908T>C |
| FGGY transcript variant X25 | XM_017001670.2:c.908= | XM_017001670.2:c.908T>C |
| FGGY transcript variant X34 | XM_017001670.1:c.908= | XM_017001670.1:c.908T>C |
| FGGY transcript variant X9 | XM_017001643.3:c.1310= | XM_017001643.3:c.1310T>C |
| FGGY transcript variant X4 | XM_017001643.2:c.1310= | XM_017001643.2:c.1310T>C |
| FGGY transcript variant X5 | XM_017001643.1:c.1310= | XM_017001643.1:c.1310T>C |
| FGGY transcript variant X23 | XM_017001662.3:c.974= | XM_017001662.3:c.974T>C |
| FGGY transcript variant X19 | XM_017001662.2:c.974= | XM_017001662.2:c.974T>C |
| FGGY transcript variant X26 | XM_017001662.1:c.974= | XM_017001662.1:c.974T>C |
| FGGY transcript variant X25 | XM_017001664.3:c.974= | XM_017001664.3:c.974T>C |
| FGGY transcript variant X21 | XM_017001664.2:c.974= | XM_017001664.2:c.974T>C |
| FGGY transcript variant X28 | XM_017001664.1:c.974= | XM_017001664.1:c.974T>C |
| FGGY transcript variant X31 | XM_017001669.3:c.908= | XM_017001669.3:c.908T>C |
| FGGY transcript variant X24 | XM_017001669.2:c.908= | XM_017001669.2:c.908T>C |
| FGGY transcript variant X33 | XM_017001669.1:c.908= | XM_017001669.1:c.908T>C |
| FGGY transcript variant X38 | XM_017001677.2:c.686= | XM_017001677.2:c.686T>C |
| FGGY transcript variant X29 | XM_017001677.1:c.686= | XM_017001677.1:c.686T>C |
| FGGY transcript variant X42 | XM_017001679.2:c.*4= | XM_017001679.2:c.*4T>C |
| FGGY transcript variant X35 | XM_017001679.1:c.*4= | XM_017001679.1:c.*4T>C |
| FGGY transcript variant X36 | XM_017001678.2:c.686= | XM_017001678.2:c.686T>C |
| FGGY transcript variant X30 | XM_017001678.1:c.686= | XM_017001678.1:c.686T>C |
| FGGY transcript variant X44 | XM_024448229.2:c.614= | XM_024448229.2:c.614T>C |
| FGGY transcript variant X37 | XM_024448229.1:c.614= | XM_024448229.1:c.614T>C |
| FGGY transcript variant X6 | XM_024448176.2:c.1310= | XM_024448176.2:c.1310T>C |
| FGGY transcript variant X3 | XM_024448176.1:c.1310= | XM_024448176.1:c.1310T>C |
| FGGY transcript variant X2 | XM_011541730.2:c.1310= | XM_011541730.2:c.1310T>C |
| FGGY transcript variant X1 | XM_011541730.1:c.1310= | XM_011541730.1:c.1310T>C |
| FGGY transcript variant X4 | XM_011541731.2:c.1310= | XM_011541731.2:c.1310T>C |
| FGGY transcript variant X2 | XM_011541731.1:c.1310= | XM_011541731.1:c.1310T>C |
| FGGY transcript variant X13 | XM_017001646.2:c.1238= | XM_017001646.2:c.1238T>C |
| FGGY transcript variant X6 | XM_017001646.1:c.1238= | XM_017001646.1:c.1238T>C |
| FGGY transcript variant X11 | XM_017001645.2:c.1238= | XM_017001645.2:c.1238T>C |
| FGGY transcript variant X5 | XM_017001645.1:c.1238= | XM_017001645.1:c.1238T>C |
| FGGY transcript variant X17 | XM_017001649.2:c.1310= | XM_017001649.2:c.1310T>C |
| FGGY transcript variant X9 | XM_017001649.1:c.1310= | XM_017001649.1:c.1310T>C |
| FGGY transcript variant X18 | XM_017001652.2:c.1238= | XM_017001652.2:c.1238T>C |
| FGGY transcript variant X10 | XM_017001652.1:c.1238= | XM_017001652.1:c.1238T>C |
| FGGY transcript variant X19 | XM_017001655.2:c.1046= | XM_017001655.2:c.1046T>C |
| FGGY transcript variant X12 | XM_017001655.1:c.1046= | XM_017001655.1:c.1046T>C |
| FGGY transcript variant X33 | XM_017001671.2:c.908= | XM_017001671.2:c.908T>C |
| FGGY transcript variant X26 | XM_017001671.1:c.908= | XM_017001671.1:c.908T>C |
| FGGY transcript variant X39 | XM_047424400.1:c.686= | XM_047424400.1:c.686T>C |
| FGGY transcript variant X3 | XM_047424381.1:c.1310= | XM_047424381.1:c.1310T>C |
| FGGY transcript variant X27 | XM_047424394.1:c.908= | XM_047424394.1:c.908T>C |
| FGGY transcript variant X35 | XM_047424398.1:c.836= | XM_047424398.1:c.836T>C |
| FGGY transcript variant X5 | XM_047424382.1:c.1310= | XM_047424382.1:c.1310T>C |
| FGGY transcript variant X7 | XM_047424383.1:c.1310= | XM_047424383.1:c.1310T>C |
| FGGY transcript variant X8 | XM_047424384.1:c.1310= | XM_047424384.1:c.1310T>C |
| FGGY transcript variant X14 | XM_047424387.1:c.1238= | XM_047424387.1:c.1238T>C |
| FGGY transcript variant X1 | XM_047424380.1:c.1310= | XM_047424380.1:c.1310T>C |
| FGGY transcript variant X12 | XM_047424386.1:c.1238= | XM_047424386.1:c.1238T>C |
| FGGY transcript variant X15 | XM_047424388.1:c.1238= | XM_047424388.1:c.1238T>C |
| FGGY transcript variant X16 | XM_047424389.1:c.1142= | XM_047424389.1:c.1142T>C |
| FGGY transcript variant X10 | XM_047424385.1:c.1310= | XM_047424385.1:c.1310T>C |
| FGGY transcript variant X30 | XM_047424396.1:c.908= | XM_047424396.1:c.908T>C |
| FGGY transcript variant X29 | XM_047424395.1:c.908= | XM_047424395.1:c.908T>C |
| FGGY transcript variant X34 | XM_047424397.1:c.908= | XM_047424397.1:c.908T>C |
| FGGY transcript variant X22 | XM_047424391.1:c.974= | XM_047424391.1:c.974T>C |
| FGGY transcript variant X26 | XM_047424393.1:c.974= | XM_047424393.1:c.974T>C |
| FGGY transcript variant X24 | XM_047424392.1:c.974= | XM_047424392.1:c.974T>C |
| FGGY transcript variant X28 | XM_017001668.1:c.908= | XM_017001668.1:c.908T>C |
| FGGY transcript variant X21 | XM_047424390.1:c.974= | XM_047424390.1:c.974T>C |
| FGGY transcript variant X37 | XM_047424399.1:c.686= | XM_047424399.1:c.686T>C |
| FGGY transcript variant X41 | XR_007061930.1:n.1249= | XR_007061930.1:n.1249T>C |
| FGGY transcript variant X40 | XR_007061929.1:n.1199= | XR_007061929.1:n.1199T>C |
| FGGY transcript variant X43 | XM_047424401.1:c.653= | XM_047424401.1:c.653T>C |
| FGGY carbohydrate kinase domain-containing protein isoform b | NP_060761.3:p.Leu413= | NP_060761.3:p.Leu413Pro |
| FGGY carbohydrate kinase domain-containing protein isoform e | NP_001337721.1:p.Leu357= | NP_001337721.1:p.Leu357Pro |
| FGGY carbohydrate kinase domain-containing protein isoform e | NP_001337722.1:p.Leu357= | NP_001337722.1:p.Leu357Pro |
| FGGY carbohydrate kinase domain-containing protein isoform a | NP_001337719.1:p.Leu437= | NP_001337719.1:p.Leu437Pro |
| FGGY carbohydrate kinase domain-containing protein isoform b | NP_001337720.1:p.Leu413= | NP_001337720.1:p.Leu413Pro |
| FGGY carbohydrate kinase domain-containing protein isoform a | NP_001106882.1:p.Leu437= | NP_001106882.1:p.Leu437Pro |
| FGGY carbohydrate kinase domain-containing protein isoform f | NP_001337723.1:p.Leu413= | NP_001337723.1:p.Leu413Pro |
| FGGY carbohydrate kinase domain-containing protein isoform i | NP_001337726.1:p.Leu279= | NP_001337726.1:p.Leu279Pro |
| FGGY carbohydrate kinase domain-containing protein isoform k | NP_001337728.1:p.Leu301= | NP_001337728.1:p.Leu301Pro |
| FGGY carbohydrate kinase domain-containing protein isoform c | NP_001231643.1:p.Leu325= | NP_001231643.1:p.Leu325Pro |
| FGGY carbohydrate kinase domain-containing protein isoform h | NP_001337725.1:p.Leu301= | NP_001337725.1:p.Leu301Pro |
| FGGY carbohydrate kinase domain-containing protein isoform g | NP_001337724.1:p.Leu349= | NP_001337724.1:p.Leu349Pro |
| FGGY carbohydrate kinase domain-containing protein isoform j | NP_001337727.1:p.Leu325= | NP_001337727.1:p.Leu325Pro |
| FGGY carbohydrate kinase domain-containing protein isoform d | NP_001265153.1:p.Leu114= | NP_001265153.1:p.Leu114Pro |
| FGGY carbohydrate kinase domain-containing protein isoform X6 | XP_011540038.1:p.Leu349= | XP_011540038.1:p.Leu349Pro |
| FGGY carbohydrate kinase domain-containing protein isoform X9 | XP_016857159.1:p.Leu303= | XP_016857159.1:p.Leu303Pro |
| FGGY carbohydrate kinase domain-containing protein isoform X1 | XP_016857132.1:p.Leu437= | XP_016857132.1:p.Leu437Pro |
| FGGY carbohydrate kinase domain-containing protein isoform X8 | XP_016857151.1:p.Leu325= | XP_016857151.1:p.Leu325Pro |
| FGGY carbohydrate kinase domain-containing protein isoform X8 | XP_016857153.1:p.Leu325= | XP_016857153.1:p.Leu325Pro |
| FGGY carbohydrate kinase domain-containing protein isoform X9 | XP_016857158.1:p.Leu303= | XP_016857158.1:p.Leu303Pro |
| FGGY carbohydrate kinase domain-containing protein isoform X11 | XP_016857166.1:p.Leu229= | XP_016857166.1:p.Leu229Pro |
| FGGY carbohydrate kinase domain-containing protein isoform X11 | XP_016857167.1:p.Leu229= | XP_016857167.1:p.Leu229Pro |
| FGGY carbohydrate kinase domain-containing protein isoform X14 | XP_024303997.1:p.Leu205= | XP_024303997.1:p.Leu205Pro |
| FGGY carbohydrate kinase domain-containing protein isoform X1 | XP_024303944.1:p.Leu437= | XP_024303944.1:p.Leu437Pro |
| FGGY carbohydrate kinase domain-containing protein isoform X1 | XP_011540032.1:p.Leu437= | XP_011540032.1:p.Leu437Pro |
| FGGY carbohydrate kinase domain-containing protein isoform X1 | XP_011540033.1:p.Leu437= | XP_011540033.1:p.Leu437Pro |
| FGGY carbohydrate kinase domain-containing protein isoform X2 | XP_016857135.1:p.Leu413= | XP_016857135.1:p.Leu413Pro |
| FGGY carbohydrate kinase domain-containing protein isoform X2 | XP_016857134.1:p.Leu413= | XP_016857134.1:p.Leu413Pro |
| FGGY carbohydrate kinase domain-containing protein isoform X4 | XP_016857138.1:p.Leu437= | XP_016857138.1:p.Leu437Pro |
| FGGY carbohydrate kinase domain-containing protein isoform X5 | XP_016857141.1:p.Leu413= | XP_016857141.1:p.Leu413Pro |
| FGGY carbohydrate kinase domain-containing protein isoform X6 | XP_016857144.1:p.Leu349= | XP_016857144.1:p.Leu349Pro |
| FGGY carbohydrate kinase domain-containing protein isoform X9 | XP_016857160.1:p.Leu303= | XP_016857160.1:p.Leu303Pro |
| FGGY carbohydrate kinase domain-containing protein isoform X11 | XP_047280356.1:p.Leu229= | XP_047280356.1:p.Leu229Pro |
| FGGY carbohydrate kinase domain-containing protein isoform X1 | XP_047280337.1:p.Leu437= | XP_047280337.1:p.Leu437Pro |
| FGGY carbohydrate kinase domain-containing protein isoform X9 | XP_047280350.1:p.Leu303= | XP_047280350.1:p.Leu303Pro |
| FGGY carbohydrate kinase domain-containing protein isoform X10 | XP_047280354.1:p.Leu279= | XP_047280354.1:p.Leu279Pro |
| FGGY carbohydrate kinase domain-containing protein isoform X1 | XP_047280338.1:p.Leu437= | XP_047280338.1:p.Leu437Pro |
| FGGY carbohydrate kinase domain-containing protein isoform X1 | XP_047280339.1:p.Leu437= | XP_047280339.1:p.Leu437Pro |
| FGGY carbohydrate kinase domain-containing protein isoform X1 | XP_047280340.1:p.Leu437= | XP_047280340.1:p.Leu437Pro |
| FGGY carbohydrate kinase domain-containing protein isoform X2 | XP_047280343.1:p.Leu413= | XP_047280343.1:p.Leu413Pro |
| FGGY carbohydrate kinase domain-containing protein isoform X1 | XP_047280336.1:p.Leu437= | XP_047280336.1:p.Leu437Pro |
| FGGY carbohydrate kinase domain-containing protein isoform X2 | XP_047280342.1:p.Leu413= | XP_047280342.1:p.Leu413Pro |
| FGGY carbohydrate kinase domain-containing protein isoform X2 | XP_047280344.1:p.Leu413= | XP_047280344.1:p.Leu413Pro |
| FGGY carbohydrate kinase domain-containing protein isoform X3 | XP_047280345.1:p.Leu381= | XP_047280345.1:p.Leu381Pro |
| FGGY carbohydrate kinase domain-containing protein isoform X1 | XP_047280341.1:p.Leu437= | XP_047280341.1:p.Leu437Pro |
| FGGY carbohydrate kinase domain-containing protein isoform X9 | XP_047280352.1:p.Leu303= | XP_047280352.1:p.Leu303Pro |
| FGGY carbohydrate kinase domain-containing protein isoform X9 | XP_047280351.1:p.Leu303= | XP_047280351.1:p.Leu303Pro |
| FGGY carbohydrate kinase domain-containing protein isoform X9 | XP_047280353.1:p.Leu303= | XP_047280353.1:p.Leu303Pro |
| FGGY carbohydrate kinase domain-containing protein isoform X7 | XP_047280347.1:p.Leu325= | XP_047280347.1:p.Leu325Pro |
| FGGY carbohydrate kinase domain-containing protein isoform X8 | XP_047280349.1:p.Leu325= | XP_047280349.1:p.Leu325Pro |
| FGGY carbohydrate kinase domain-containing protein isoform X8 | XP_047280348.1:p.Leu325= | XP_047280348.1:p.Leu325Pro |
| FGGY carbohydrate kinase domain-containing protein isoform X9 | XP_016857157.1:p.Leu303= | XP_016857157.1:p.Leu303Pro |
| FGGY carbohydrate kinase domain-containing protein isoform X7 | XP_047280346.1:p.Leu325= | XP_047280346.1:p.Leu325Pro |
| FGGY carbohydrate kinase domain-containing protein isoform X11 | XP_047280355.1:p.Leu229= | XP_047280355.1:p.Leu229Pro |
| FGGY carbohydrate kinase domain-containing protein isoform X13 | XP_047280357.1:p.Leu218= | XP_047280357.1:p.Leu218Pro |
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#.
2 SubSNP,
2 Frequency
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | GNOMAD | ss2731536654 | Nov 08, 2017 (151) |
| 2 | GNOMAD | ss3994226111 | Apr 27, 2021 (155) |
| 3 | gnomAD - Genomes | NC_000001.11 - 59660235 | Apr 27, 2021 (155) |
| 4 | ALFA | NC_000001.11 - 59660235 | Apr 27, 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).
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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 rs1480864597
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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.
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.