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.
rs762780968
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr4:53452936 (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>A
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
A=0.000004 (1/248922, GnomAD_exome)A=0.000008 (1/121310, ExAC)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- FIP1L1 : Synonymous Variant
- Publications
- 0 citations
- Genomic View
- See rs on genome
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 |
|---|---|---|---|---|---|
| gnomAD - Exomes | Global | Study-wide | 248922 | T=0.999996 | A=0.000004 |
| gnomAD - Exomes | European | Sub | 132894 | T=1.000000 | A=0.000000 |
| gnomAD - Exomes | Asian | Sub | 49006 | T=0.99998 | A=0.00002 |
| gnomAD - Exomes | American | Sub | 34584 | T=1.00000 | A=0.00000 |
| gnomAD - Exomes | African | Sub | 16256 | T=1.00000 | A=0.00000 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 10070 | T=1.00000 | A=0.00000 |
| gnomAD - Exomes | Other | Sub | 6112 | T=1.0000 | A=0.0000 |
| ExAC | Global | Study-wide | 121310 | T=0.999992 | A=0.000008 |
| ExAC | Europe | Sub | 73298 | T=1.00000 | A=0.00000 |
| ExAC | Asian | Sub | 25144 | T=0.99996 | A=0.00004 |
| ExAC | American | Sub | 11564 | T=1.00000 | A=0.00000 |
| ExAC | African | Sub | 10396 | T=1.00000 | A=0.00000 |
| ExAC | Other | Sub | 908 | T=1.000 | A=0.000 |
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 4 | NC_000004.12:g.53452936T>A |
| GRCh37.p13 chr 4 | NC_000004.11:g.54319103T>A |
| FIP1L1 RefSeqGene | NG_008644.1:g.80284T>A |
Gene: FIP1L1, factor interacting with PAPOLA and CPSF1
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| FIP1L1 transcript variant 7 |
NM_001376747.1:c.1244-27T… NM_001376747.1:c.1244-27T>A |
N/A | Intron Variant |
| FIP1L1 transcript variant 17 |
NM_001376757.1:c.1172-27T… NM_001376757.1:c.1172-27T>A |
N/A | Intron Variant |
| FIP1L1 transcript variant 25 |
NM_001376766.1:c.1313-571… NM_001376766.1:c.1313-5717T>A |
N/A | Intron Variant |
| FIP1L1 transcript variant 29 |
NM_001376770.1:c.1109-27T… NM_001376770.1:c.1109-27T>A |
N/A | Intron Variant |
| FIP1L1 transcript variant 35 |
NM_001376776.1:c.1241-571… NM_001376776.1:c.1241-5717T>A |
N/A | Intron Variant |
| FIP1L1 transcript variant 43 |
NM_001376784.1:c.1193-571… NM_001376784.1:c.1193-5717T>A |
N/A | Intron Variant |
| FIP1L1 transcript variant 45 |
NM_001376786.1:c.1136-571… NM_001376786.1:c.1136-5717T>A |
N/A | Intron Variant |
| FIP1L1 transcript variant 1 | NM_030917.4:c.1302T>A | L [CTT] > L [CTA] | Coding Sequence Variant |
| pre-mRNA 3'-end-processing factor FIP1 isoform 1 | NP_112179.2:p.Leu434= | L (Leu) > L (Leu) | Synonymous Variant |
| FIP1L1 transcript variant 5 | NM_001376745.1:c.1329T>A | L [CTT] > L [CTA] | Coding Sequence Variant |
| pre-mRNA 3'-end-processing factor FIP1 isoform 5 | NP_001363674.1:p.Leu443= | L (Leu) > L (Leu) | Synonymous Variant |
| FIP1L1 transcript variant 44 | NM_001376785.1:c.1059T>A | L [CTT] > L [CTA] | Coding Sequence Variant |
| pre-mRNA 3'-end-processing factor FIP1 isoform 44 | NP_001363714.1:p.Leu353= | L (Leu) > L (Leu) | Synonymous Variant |
| FIP1L1 transcript variant 8 | NM_001376748.1:c.1260T>A | L [CTT] > L [CTA] | Coding Sequence Variant |
| pre-mRNA 3'-end-processing factor FIP1 isoform 8 | NP_001363677.1:p.Leu420= | L (Leu) > L (Leu) | Synonymous Variant |
| FIP1L1 transcript variant 27 | NM_001376768.1:c.1182T>A | L [CTT] > L [CTA] | Coding Sequence Variant |
| pre-mRNA 3'-end-processing factor FIP1 isoform 27 | NP_001363697.1:p.Leu394= | L (Leu) > L (Leu) | Synonymous Variant |
| FIP1L1 transcript variant 13 | NM_001376753.1:c.1233T>A | L [CTT] > L [CTA] | Coding Sequence Variant |
| pre-mRNA 3'-end-processing factor FIP1 isoform 13 | NP_001363682.1:p.Leu411= | L (Leu) > L (Leu) | Synonymous Variant |
| FIP1L1 transcript variant 40 | NM_001376781.1:c.1080T>A | L [CTT] > L [CTA] | Coding Sequence Variant |
| pre-mRNA 3'-end-processing factor FIP1 isoform 40 | NP_001363710.1:p.Leu360= | L (Leu) > L (Leu) | Synonymous Variant |
| FIP1L1 transcript variant 16 | NM_001376756.1:c.1230T>A | L [CTT] > L [CTA] | Coding Sequence Variant |
| pre-mRNA 3'-end-processing factor FIP1 isoform 16 | NP_001363685.1:p.Leu410= | L (Leu) > L (Leu) | Synonymous Variant |
| FIP1L1 transcript variant 28 | NM_001376769.1:c.1176T>A | L [CTT] > L [CTA] | Coding Sequence Variant |
| pre-mRNA 3'-end-processing factor FIP1 isoform 28 | NP_001363698.1:p.Leu392= | L (Leu) > L (Leu) | Synonymous Variant |
| FIP1L1 transcript variant 10 | NM_001376750.1:c.1257T>A | L [CTT] > L [CTA] | Coding Sequence Variant |
| pre-mRNA 3'-end-processing factor FIP1 isoform 10 | NP_001363679.1:p.Leu419= | L (Leu) > L (Leu) | Synonymous Variant |
| FIP1L1 transcript variant 38 | NM_001376779.1:c.1107T>A | L [CTT] > L [CTA] | Coding Sequence Variant |
| pre-mRNA 3'-end-processing factor FIP1 isoform 38 | NP_001363708.1:p.Leu369= | L (Leu) > L (Leu) | Synonymous Variant |
| FIP1L1 transcript variant 14 | NM_001376754.1:c.1233T>A | L [CTT] > L [CTA] | Coding Sequence Variant |
| pre-mRNA 3'-end-processing factor FIP1 isoform 14 | NP_001363683.1:p.Leu411= | L (Leu) > L (Leu) | Synonymous Variant |
| FIP1L1 transcript variant 19 | NM_001376759.1:c.1221T>A | L [CTT] > L [CTA] | Coding Sequence Variant |
| pre-mRNA 3'-end-processing factor FIP1 isoform 19 | NP_001363688.1:p.Leu407= | L (Leu) > L (Leu) | Synonymous Variant |
| FIP1L1 transcript variant 30 | NM_001376771.1:c.1152T>A | L [CTT] > L [CTA] | Coding Sequence Variant |
| pre-mRNA 3'-end-processing factor FIP1 isoform 30 | NP_001363700.1:p.Leu384= | L (Leu) > L (Leu) | Synonymous Variant |
| FIP1L1 transcript variant 23 | NM_001376764.1:c.1209T>A | L [CTT] > L [CTA] | Coding Sequence Variant |
| pre-mRNA 3'-end-processing factor FIP1 isoform 23 | NP_001363693.1:p.Leu403= | L (Leu) > L (Leu) | Synonymous Variant |
| FIP1L1 transcript variant 36 | NM_001376777.1:c.1119T>A | L [CTT] > L [CTA] | Coding Sequence Variant |
| pre-mRNA 3'-end-processing factor FIP1 isoform 36 | NP_001363706.1:p.Leu373= | L (Leu) > L (Leu) | Synonymous Variant |
| FIP1L1 transcript variant 15 | NM_001376755.1:c.1230T>A | L [CTT] > L [CTA] | Coding Sequence Variant |
| pre-mRNA 3'-end-processing factor FIP1 isoform 15 | NP_001363684.1:p.Leu410= | L (Leu) > L (Leu) | Synonymous Variant |
| FIP1L1 transcript variant 12 | NM_001376752.1:c.1260T>A | L [CTT] > L [CTA] | Coding Sequence Variant |
| pre-mRNA 3'-end-processing factor FIP1 isoform 12 | NP_001363681.1:p.Leu420= | L (Leu) > L (Leu) | Synonymous Variant |
| FIP1L1 transcript variant 21 | NM_001376761.1:c.1215T>A | L [CTT] > L [CTA] | Coding Sequence Variant |
| pre-mRNA 3'-end-processing factor FIP1 isoform 21 | NP_001363690.1:p.Leu405= | L (Leu) > L (Leu) | Synonymous Variant |
| FIP1L1 transcript variant 11 | NM_001376751.1:c.1254T>A | L [CTT] > L [CTA] | Coding Sequence Variant |
| pre-mRNA 3'-end-processing factor FIP1 isoform 11 | NP_001363680.1:p.Leu418= | L (Leu) > L (Leu) | Synonymous Variant |
| FIP1L1 transcript variant 41 | NM_001376782.1:c.1077T>A | L [CTT] > L [CTA] | Coding Sequence Variant |
| pre-mRNA 3'-end-processing factor FIP1 isoform 41 | NP_001363711.1:p.Leu359= | L (Leu) > L (Leu) | Synonymous Variant |
| FIP1L1 transcript variant 2 | NM_001134937.2:c.1284T>A | L [CTT] > L [CTA] | Coding Sequence Variant |
| pre-mRNA 3'-end-processing factor FIP1 isoform 2 | NP_001128409.1:p.Leu428= | L (Leu) > L (Leu) | Synonymous Variant |
| FIP1L1 transcript variant 9 | NM_001376749.1:c.1260T>A | L [CTT] > L [CTA] | Coding Sequence Variant |
| pre-mRNA 3'-end-processing factor FIP1 isoform 9 | NP_001363678.1:p.Leu420= | L (Leu) > L (Leu) | Synonymous Variant |
| FIP1L1 transcript variant 34 | NM_001376775.1:c.1125T>A | L [CTT] > L [CTA] | Coding Sequence Variant |
| pre-mRNA 3'-end-processing factor FIP1 isoform 34 | NP_001363704.1:p.Leu375= | L (Leu) > L (Leu) | Synonymous Variant |
| FIP1L1 transcript variant 33 | NM_001376774.1:c.1125T>A | L [CTT] > L [CTA] | Coding Sequence Variant |
| pre-mRNA 3'-end-processing factor FIP1 isoform 33 | NP_001363703.1:p.Leu375= | L (Leu) > L (Leu) | Synonymous Variant |
| FIP1L1 transcript variant 20 | NM_001376760.1:c.1215T>A | L [CTT] > L [CTA] | Coding Sequence Variant |
| pre-mRNA 3'-end-processing factor FIP1 isoform 20 | NP_001363689.1:p.Leu405= | L (Leu) > L (Leu) | Synonymous Variant |
| FIP1L1 transcript variant 22 | NM_001376762.1:c.1209T>A | L [CTT] > L [CTA] | Coding Sequence Variant |
| pre-mRNA 3'-end-processing factor FIP1 isoform 22 | NP_001363691.1:p.Leu403= | L (Leu) > L (Leu) | Synonymous Variant |
| FIP1L1 transcript variant 32 | NM_001376773.1:c.1149T>A | L [CTT] > L [CTA] | Coding Sequence Variant |
| pre-mRNA 3'-end-processing factor FIP1 isoform 32 | NP_001363702.1:p.Leu383= | L (Leu) > L (Leu) | Synonymous Variant |
| FIP1L1 transcript variant 3 | NM_001134938.2:c.1080T>A | L [CTT] > L [CTA] | Coding Sequence Variant |
| pre-mRNA 3'-end-processing factor FIP1 isoform 3 | NP_001128410.1:p.Leu360= | L (Leu) > L (Leu) | Synonymous Variant |
| FIP1L1 transcript variant 24 | NM_001376765.1:c.1194T>A | L [CTT] > L [CTA] | Coding Sequence Variant |
| pre-mRNA 3'-end-processing factor FIP1 isoform 24 | NP_001363694.1:p.Leu398= | L (Leu) > L (Leu) | Synonymous Variant |
| FIP1L1 transcript variant 4 | NM_001376744.1:c.1329T>A | L [CTT] > L [CTA] | Coding Sequence Variant |
| pre-mRNA 3'-end-processing factor FIP1 isoform 4 | NP_001363673.1:p.Leu443= | L (Leu) > L (Leu) | Synonymous Variant |
| FIP1L1 transcript variant 6 | NM_001376746.1:c.1323T>A | L [CTT] > L [CTA] | Coding Sequence Variant |
| pre-mRNA 3'-end-processing factor FIP1 isoform 6 | NP_001363675.1:p.Leu441= | L (Leu) > L (Leu) | Synonymous Variant |
| FIP1L1 transcript variant 26 | NM_001376767.1:c.1188T>A | L [CTT] > L [CTA] | Coding Sequence Variant |
| pre-mRNA 3'-end-processing factor FIP1 isoform 26 | NP_001363696.1:p.Leu396= | L (Leu) > L (Leu) | Synonymous Variant |
| FIP1L1 transcript variant 39 | NM_001376780.1:c.1101T>A | L [CTT] > L [CTA] | Coding Sequence Variant |
| pre-mRNA 3'-end-processing factor FIP1 isoform 39 | NP_001363709.1:p.Leu367= | L (Leu) > L (Leu) | Synonymous Variant |
| FIP1L1 transcript variant 18 | NM_001376758.1:c.1215T>A | L [CTT] > L [CTA] | Coding Sequence Variant |
| pre-mRNA 3'-end-processing factor FIP1 isoform 18 | NP_001363687.1:p.Leu405= | L (Leu) > L (Leu) | Synonymous Variant |
| FIP1L1 transcript variant 31 | NM_001376772.1:c.1152T>A | L [CTT] > L [CTA] | Coding Sequence Variant |
| pre-mRNA 3'-end-processing factor FIP1 isoform 31 | NP_001363701.1:p.Leu384= | L (Leu) > L (Leu) | Synonymous Variant |
| FIP1L1 transcript variant 37 | NM_001376778.1:c.1107T>A | L [CTT] > L [CTA] | Coding Sequence Variant |
| pre-mRNA 3'-end-processing factor FIP1 isoform 37 | NP_001363707.1:p.Leu369= | L (Leu) > L (Leu) | Synonymous Variant |
| FIP1L1 transcript variant 42 | NM_001376783.1:c.1074T>A | L [CTT] > L [CTA] | Coding Sequence Variant |
| pre-mRNA 3'-end-processing factor FIP1 isoform 42 | NP_001363712.1:p.Leu358= | L (Leu) > L (Leu) | Synonymous Variant |
| FIP1L1 transcript variant 47 | NR_164848.1:n.1619T>A | N/A | Non Coding Transcript Variant |
| FIP1L1 transcript variant 48 | NR_164849.1:n.1412T>A | N/A | Non Coding Transcript Variant |
| FIP1L1 transcript variant 46 | NR_164847.1:n.1319T>A | N/A | Non Coding Transcript Variant |
| FIP1L1 transcript variant X7 |
XM_005265779.5:c.1286-571… XM_005265779.5:c.1286-5717T>A |
N/A | Intron Variant |
| FIP1L1 transcript variant X11 |
XM_047416217.1:c.1268-571… XM_047416217.1:c.1268-5717T>A |
N/A | Intron Variant |
| FIP1L1 transcript variant X10 |
XM_047416218.1:c.1244-571… XM_047416218.1:c.1244-5717T>A |
N/A | Intron Variant |
| FIP1L1 transcript variant X1 | XM_047416208.1:c.1302T>A | L [CTT] > L [CTA] | Coding Sequence Variant |
| pre-mRNA 3'-end-processing factor FIP1 isoform X1 | XP_047272164.1:p.Leu434= | L (Leu) > L (Leu) | Synonymous Variant |
| FIP1L1 transcript variant X2 | XM_047416209.1:c.1284T>A | L [CTT] > L [CTA] | Coding Sequence Variant |
| pre-mRNA 3'-end-processing factor FIP1 isoform X2 | XP_047272165.1:p.Leu428= | L (Leu) > L (Leu) | Synonymous Variant |
| FIP1L1 transcript variant X2 | XM_047416210.1:c.1257T>A | L [CTT] > L [CTA] | Coding Sequence Variant |
| pre-mRNA 3'-end-processing factor FIP1 isoform X2 | XP_047272166.1:p.Leu419= | L (Leu) > L (Leu) | Synonymous Variant |
| FIP1L1 transcript variant X3 | XM_047416211.1:c.1221T>A | L [CTT] > L [CTA] | Coding Sequence Variant |
| pre-mRNA 3'-end-processing factor FIP1 isoform X3 | XP_047272167.1:p.Leu407= | L (Leu) > L (Leu) | Synonymous Variant |
| FIP1L1 transcript variant X4 | XM_047416212.1:c.1194T>A | L [CTT] > L [CTA] | Coding Sequence Variant |
| pre-mRNA 3'-end-processing factor FIP1 isoform X4 | XP_047272168.1:p.Leu398= | L (Leu) > L (Leu) | Synonymous Variant |
| FIP1L1 transcript variant X5 | XM_047416213.1:c.1188T>A | L [CTT] > L [CTA] | Coding Sequence Variant |
| pre-mRNA 3'-end-processing factor FIP1 isoform X5 | XP_047272169.1:p.Leu396= | L (Leu) > L (Leu) | Synonymous Variant |
| FIP1L1 transcript variant X6 | XM_047416214.1:c.1176T>A | L [CTT] > L [CTA] | Coding Sequence Variant |
| pre-mRNA 3'-end-processing factor FIP1 isoform X6 | XP_047272170.1:p.Leu392= | L (Leu) > L (Leu) | Synonymous Variant |
| FIP1L1 transcript variant X8 | XM_047416215.1:c.1152T>A | L [CTT] > L [CTA] | Coding Sequence Variant |
| pre-mRNA 3'-end-processing factor FIP1 isoform X8 | XP_047272171.1:p.Leu384= | L (Leu) > L (Leu) | Synonymous Variant |
| FIP1L1 transcript variant X9 | XM_047416216.1:c.1149T>A | L [CTT] > L [CTA] | Coding Sequence Variant |
| pre-mRNA 3'-end-processing factor FIP1 isoform X9 | XP_047272172.1:p.Leu383= | L (Leu) > L (Leu) | 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= | A |
|---|---|---|
| GRCh38.p14 chr 4 | NC_000004.12:g.53452936= | NC_000004.12:g.53452936T>A |
| GRCh37.p13 chr 4 | NC_000004.11:g.54319103= | NC_000004.11:g.54319103T>A |
| FIP1L1 RefSeqGene | NG_008644.1:g.80284= | NG_008644.1:g.80284T>A |
| FIP1L1 transcript variant 1 | NM_030917.4:c.1302= | NM_030917.4:c.1302T>A |
| FIP1L1 transcript variant 1 | NM_030917.3:c.1302= | NM_030917.3:c.1302T>A |
| FIP1L1 transcript variant 2 | NM_001134937.2:c.1284= | NM_001134937.2:c.1284T>A |
| FIP1L1 transcript variant 2 | NM_001134937.1:c.1284= | NM_001134937.1:c.1284T>A |
| FIP1L1 transcript variant 3 | NM_001134938.2:c.1080= | NM_001134938.2:c.1080T>A |
| FIP1L1 transcript variant 3 | NM_001134938.1:c.1080= | NM_001134938.1:c.1080T>A |
| FIP1L1 transcript variant 47 | NR_164848.1:n.1619= | NR_164848.1:n.1619T>A |
| FIP1L1 transcript variant 4 | NM_001376744.1:c.1329= | NM_001376744.1:c.1329T>A |
| FIP1L1 transcript variant 5 | NM_001376745.1:c.1329= | NM_001376745.1:c.1329T>A |
| FIP1L1 transcript variant 6 | NM_001376746.1:c.1323= | NM_001376746.1:c.1323T>A |
| FIP1L1 transcript variant 49 | NM_001410723.1:c.1284= | NM_001410723.1:c.1284T>A |
| FIP1L1 transcript variant 8 | NM_001376748.1:c.1260= | NM_001376748.1:c.1260T>A |
| FIP1L1 transcript variant 9 | NM_001376749.1:c.1260= | NM_001376749.1:c.1260T>A |
| FIP1L1 transcript variant 10 | NM_001376750.1:c.1257= | NM_001376750.1:c.1257T>A |
| FIP1L1 transcript variant 12 | NM_001376752.1:c.1260= | NM_001376752.1:c.1260T>A |
| FIP1L1 transcript variant 11 | NM_001376751.1:c.1254= | NM_001376751.1:c.1254T>A |
| FIP1L1 transcript variant 13 | NM_001376753.1:c.1233= | NM_001376753.1:c.1233T>A |
| FIP1L1 transcript variant 14 | NM_001376754.1:c.1233= | NM_001376754.1:c.1233T>A |
| FIP1L1 transcript variant 16 | NM_001376756.1:c.1230= | NM_001376756.1:c.1230T>A |
| FIP1L1 transcript variant 15 | NM_001376755.1:c.1230= | NM_001376755.1:c.1230T>A |
| FIP1L1 transcript variant 18 | NM_001376758.1:c.1215= | NM_001376758.1:c.1215T>A |
| FIP1L1 transcript variant 19 | NM_001376759.1:c.1221= | NM_001376759.1:c.1221T>A |
| FIP1L1 transcript variant 21 | NM_001376761.1:c.1215= | NM_001376761.1:c.1215T>A |
| FIP1L1 transcript variant 20 | NM_001376760.1:c.1215= | NM_001376760.1:c.1215T>A |
| FIP1L1 transcript variant 48 | NR_164849.1:n.1412= | NR_164849.1:n.1412T>A |
| FIP1L1 transcript variant 22 | NM_001376762.1:c.1209= | NM_001376762.1:c.1209T>A |
| FIP1L1 transcript variant 23 | NM_001376764.1:c.1209= | NM_001376764.1:c.1209T>A |
| FIP1L1 transcript variant 24 | NM_001376765.1:c.1194= | NM_001376765.1:c.1194T>A |
| FIP1L1 transcript variant 26 | NM_001376767.1:c.1188= | NM_001376767.1:c.1188T>A |
| FIP1L1 transcript variant 27 | NM_001376768.1:c.1182= | NM_001376768.1:c.1182T>A |
| FIP1L1 transcript variant 28 | NM_001376769.1:c.1176= | NM_001376769.1:c.1176T>A |
| FIP1L1 transcript variant 31 | NM_001376772.1:c.1152= | NM_001376772.1:c.1152T>A |
| FIP1L1 transcript variant 30 | NM_001376771.1:c.1152= | NM_001376771.1:c.1152T>A |
| FIP1L1 transcript variant 32 | NM_001376773.1:c.1149= | NM_001376773.1:c.1149T>A |
| FIP1L1 transcript variant 41 | NM_001376782.1:c.1077= | NM_001376782.1:c.1077T>A |
| FIP1L1 transcript variant 33 | NM_001376774.1:c.1125= | NM_001376774.1:c.1125T>A |
| FIP1L1 transcript variant 34 | NM_001376775.1:c.1125= | NM_001376775.1:c.1125T>A |
| FIP1L1 transcript variant 46 | NR_164847.1:n.1319= | NR_164847.1:n.1319T>A |
| FIP1L1 transcript variant 36 | NM_001376777.1:c.1119= | NM_001376777.1:c.1119T>A |
| FIP1L1 transcript variant 37 | NM_001376778.1:c.1107= | NM_001376778.1:c.1107T>A |
| FIP1L1 transcript variant 38 | NM_001376779.1:c.1107= | NM_001376779.1:c.1107T>A |
| FIP1L1 transcript variant 39 | NM_001376780.1:c.1101= | NM_001376780.1:c.1101T>A |
| FIP1L1 transcript variant 40 | NM_001376781.1:c.1080= | NM_001376781.1:c.1080T>A |
| FIP1L1 transcript variant 42 | NM_001376783.1:c.1074= | NM_001376783.1:c.1074T>A |
| FIP1L1 transcript variant 44 | NM_001376785.1:c.1059= | NM_001376785.1:c.1059T>A |
| FIP1L1 transcript variant X1 | XM_047416208.1:c.1302= | XM_047416208.1:c.1302T>A |
| FIP1L1 transcript variant X2 | XM_047416209.1:c.1284= | XM_047416209.1:c.1284T>A |
| FIP1L1 transcript variant X2 | XM_047416210.1:c.1257= | XM_047416210.1:c.1257T>A |
| FIP1L1 transcript variant X3 | XM_047416211.1:c.1221= | XM_047416211.1:c.1221T>A |
| FIP1L1 transcript variant X4 | XM_047416212.1:c.1194= | XM_047416212.1:c.1194T>A |
| FIP1L1 transcript variant X5 | XM_047416213.1:c.1188= | XM_047416213.1:c.1188T>A |
| FIP1L1 transcript variant X6 | XM_047416214.1:c.1176= | XM_047416214.1:c.1176T>A |
| FIP1L1 transcript variant X8 | XM_047416215.1:c.1152= | XM_047416215.1:c.1152T>A |
| FIP1L1 transcript variant X9 | XM_047416216.1:c.1149= | XM_047416216.1:c.1149T>A |
| pre-mRNA 3'-end-processing factor FIP1 isoform 1 | NP_112179.2:p.Leu434= | NP_112179.2:p.Leu434= |
| pre-mRNA 3'-end-processing factor FIP1 isoform 2 | NP_001128409.1:p.Leu428= | NP_001128409.1:p.Leu428= |
| pre-mRNA 3'-end-processing factor FIP1 isoform 3 | NP_001128410.1:p.Leu360= | NP_001128410.1:p.Leu360= |
| pre-mRNA 3'-end-processing factor FIP1 isoform 4 | NP_001363673.1:p.Leu443= | NP_001363673.1:p.Leu443= |
| pre-mRNA 3'-end-processing factor FIP1 isoform 5 | NP_001363674.1:p.Leu443= | NP_001363674.1:p.Leu443= |
| pre-mRNA 3'-end-processing factor FIP1 isoform 6 | NP_001363675.1:p.Leu441= | NP_001363675.1:p.Leu441= |
| pre-mRNA 3'-end-processing factor FIP1 isoform 8 | NP_001363677.1:p.Leu420= | NP_001363677.1:p.Leu420= |
| pre-mRNA 3'-end-processing factor FIP1 isoform 9 | NP_001363678.1:p.Leu420= | NP_001363678.1:p.Leu420= |
| pre-mRNA 3'-end-processing factor FIP1 isoform 10 | NP_001363679.1:p.Leu419= | NP_001363679.1:p.Leu419= |
| pre-mRNA 3'-end-processing factor FIP1 isoform 12 | NP_001363681.1:p.Leu420= | NP_001363681.1:p.Leu420= |
| pre-mRNA 3'-end-processing factor FIP1 isoform 11 | NP_001363680.1:p.Leu418= | NP_001363680.1:p.Leu418= |
| pre-mRNA 3'-end-processing factor FIP1 isoform 13 | NP_001363682.1:p.Leu411= | NP_001363682.1:p.Leu411= |
| pre-mRNA 3'-end-processing factor FIP1 isoform 14 | NP_001363683.1:p.Leu411= | NP_001363683.1:p.Leu411= |
| pre-mRNA 3'-end-processing factor FIP1 isoform 16 | NP_001363685.1:p.Leu410= | NP_001363685.1:p.Leu410= |
| pre-mRNA 3'-end-processing factor FIP1 isoform 15 | NP_001363684.1:p.Leu410= | NP_001363684.1:p.Leu410= |
| pre-mRNA 3'-end-processing factor FIP1 isoform 18 | NP_001363687.1:p.Leu405= | NP_001363687.1:p.Leu405= |
| pre-mRNA 3'-end-processing factor FIP1 isoform 19 | NP_001363688.1:p.Leu407= | NP_001363688.1:p.Leu407= |
| pre-mRNA 3'-end-processing factor FIP1 isoform 21 | NP_001363690.1:p.Leu405= | NP_001363690.1:p.Leu405= |
| pre-mRNA 3'-end-processing factor FIP1 isoform 20 | NP_001363689.1:p.Leu405= | NP_001363689.1:p.Leu405= |
| pre-mRNA 3'-end-processing factor FIP1 isoform 22 | NP_001363691.1:p.Leu403= | NP_001363691.1:p.Leu403= |
| pre-mRNA 3'-end-processing factor FIP1 isoform 23 | NP_001363693.1:p.Leu403= | NP_001363693.1:p.Leu403= |
| pre-mRNA 3'-end-processing factor FIP1 isoform 24 | NP_001363694.1:p.Leu398= | NP_001363694.1:p.Leu398= |
| pre-mRNA 3'-end-processing factor FIP1 isoform 26 | NP_001363696.1:p.Leu396= | NP_001363696.1:p.Leu396= |
| pre-mRNA 3'-end-processing factor FIP1 isoform 27 | NP_001363697.1:p.Leu394= | NP_001363697.1:p.Leu394= |
| pre-mRNA 3'-end-processing factor FIP1 isoform 28 | NP_001363698.1:p.Leu392= | NP_001363698.1:p.Leu392= |
| pre-mRNA 3'-end-processing factor FIP1 isoform 31 | NP_001363701.1:p.Leu384= | NP_001363701.1:p.Leu384= |
| pre-mRNA 3'-end-processing factor FIP1 isoform 30 | NP_001363700.1:p.Leu384= | NP_001363700.1:p.Leu384= |
| pre-mRNA 3'-end-processing factor FIP1 isoform 32 | NP_001363702.1:p.Leu383= | NP_001363702.1:p.Leu383= |
| pre-mRNA 3'-end-processing factor FIP1 isoform 41 | NP_001363711.1:p.Leu359= | NP_001363711.1:p.Leu359= |
| pre-mRNA 3'-end-processing factor FIP1 isoform 33 | NP_001363703.1:p.Leu375= | NP_001363703.1:p.Leu375= |
| pre-mRNA 3'-end-processing factor FIP1 isoform 34 | NP_001363704.1:p.Leu375= | NP_001363704.1:p.Leu375= |
| pre-mRNA 3'-end-processing factor FIP1 isoform 36 | NP_001363706.1:p.Leu373= | NP_001363706.1:p.Leu373= |
| pre-mRNA 3'-end-processing factor FIP1 isoform 37 | NP_001363707.1:p.Leu369= | NP_001363707.1:p.Leu369= |
| pre-mRNA 3'-end-processing factor FIP1 isoform 38 | NP_001363708.1:p.Leu369= | NP_001363708.1:p.Leu369= |
| pre-mRNA 3'-end-processing factor FIP1 isoform 39 | NP_001363709.1:p.Leu367= | NP_001363709.1:p.Leu367= |
| pre-mRNA 3'-end-processing factor FIP1 isoform 40 | NP_001363710.1:p.Leu360= | NP_001363710.1:p.Leu360= |
| pre-mRNA 3'-end-processing factor FIP1 isoform 42 | NP_001363712.1:p.Leu358= | NP_001363712.1:p.Leu358= |
| pre-mRNA 3'-end-processing factor FIP1 isoform 44 | NP_001363714.1:p.Leu353= | NP_001363714.1:p.Leu353= |
| pre-mRNA 3'-end-processing factor FIP1 isoform X1 | XP_047272164.1:p.Leu434= | XP_047272164.1:p.Leu434= |
| pre-mRNA 3'-end-processing factor FIP1 isoform X2 | XP_047272165.1:p.Leu428= | XP_047272165.1:p.Leu428= |
| pre-mRNA 3'-end-processing factor FIP1 isoform X2 | XP_047272166.1:p.Leu419= | XP_047272166.1:p.Leu419= |
| pre-mRNA 3'-end-processing factor FIP1 isoform X3 | XP_047272167.1:p.Leu407= | XP_047272167.1:p.Leu407= |
| pre-mRNA 3'-end-processing factor FIP1 isoform X4 | XP_047272168.1:p.Leu398= | XP_047272168.1:p.Leu398= |
| pre-mRNA 3'-end-processing factor FIP1 isoform X5 | XP_047272169.1:p.Leu396= | XP_047272169.1:p.Leu396= |
| pre-mRNA 3'-end-processing factor FIP1 isoform X6 | XP_047272170.1:p.Leu392= | XP_047272170.1:p.Leu392= |
| pre-mRNA 3'-end-processing factor FIP1 isoform X8 | XP_047272171.1:p.Leu384= | XP_047272171.1:p.Leu384= |
| pre-mRNA 3'-end-processing factor FIP1 isoform X9 | XP_047272172.1:p.Leu383= | XP_047272172.1:p.Leu383= |
| FIP1L1 transcript variant 7 | NM_001376747.1:c.1244-27= | NM_001376747.1:c.1244-27T>A |
| FIP1L1 transcript variant 17 | NM_001376757.1:c.1172-27= | NM_001376757.1:c.1172-27T>A |
| FIP1L1 transcript variant 25 | NM_001376766.1:c.1313-5717= | NM_001376766.1:c.1313-5717T>A |
| FIP1L1 transcript variant 29 | NM_001376770.1:c.1109-27= | NM_001376770.1:c.1109-27T>A |
| FIP1L1 transcript variant 35 | NM_001376776.1:c.1241-5717= | NM_001376776.1:c.1241-5717T>A |
| FIP1L1 transcript variant 43 | NM_001376784.1:c.1193-5717= | NM_001376784.1:c.1193-5717T>A |
| FIP1L1 transcript variant 45 | NM_001376786.1:c.1136-5717= | NM_001376786.1:c.1136-5717T>A |
| FIP1L1 transcript variant X11 | XM_005265778.1:c.1313-5717= | XM_005265778.1:c.1313-5717T>A |
| FIP1L1 transcript variant X12 | XM_005265779.1:c.1286-5717= | XM_005265779.1:c.1286-5717T>A |
| FIP1L1 transcript variant X7 | XM_005265779.5:c.1286-5717= | XM_005265779.5:c.1286-5717T>A |
| FIP1L1 transcript variant X11 | XM_047416217.1:c.1268-5717= | XM_047416217.1:c.1268-5717T>A |
| FIP1L1 transcript variant X10 | XM_047416218.1:c.1244-5717= | XM_047416218.1:c.1244-5717T>A |
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 | EVA_EXAC | ss1687492650 | Apr 01, 2015 (144) |
| 2 | GNOMAD | ss2734508633 | Nov 08, 2017 (151) |
| 3 | ExAC | NC_000004.11 - 54319103 | Oct 12, 2018 (152) |
| 4 | gnomAD - Exomes | NC_000004.11 - 54319103 | Jul 13, 2019 (153) |
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 rs762780968
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.