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.
rs1464404431
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr3:9688980 (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
- G>C
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
C=0.000015 (4/264690, TOPMED)C=0.000007 (1/140246, GnomAD)C=0.00000 (0/14050, ALFA)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- MTMR14 : 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 | 14050 | G=1.00000 | C=0.00000 | 1.0 | 0.0 | 0.0 | N/A |
| European | Sub | 9690 | G=1.0000 | C=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| African | Sub | 2898 | G=1.0000 | C=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| African Others | Sub | 114 | G=1.000 | C=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| African American | Sub | 2784 | G=1.0000 | C=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| Asian | Sub | 112 | G=1.000 | C=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| East Asian | Sub | 86 | G=1.00 | C=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Other Asian | Sub | 26 | G=1.00 | C=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 1 | Sub | 146 | G=1.000 | C=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 2 | Sub | 610 | G=1.000 | C=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| South Asian | Sub | 98 | G=1.00 | C=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Other | Sub | 496 | G=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 |
|---|---|---|---|---|---|
| TopMed | Global | Study-wide | 264690 | G=0.999985 | C=0.000015 |
| gnomAD - Genomes | Global | Study-wide | 140246 | G=0.999993 | C=0.000007 |
| gnomAD - Genomes | European | Sub | 75950 | G=1.00000 | C=0.00000 |
| gnomAD - Genomes | African | Sub | 42034 | G=0.99998 | C=0.00002 |
| gnomAD - Genomes | American | Sub | 13658 | G=1.00000 | C=0.00000 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3320 | G=1.0000 | C=0.0000 |
| gnomAD - Genomes | East Asian | Sub | 3130 | G=1.0000 | C=0.0000 |
| gnomAD - Genomes | Other | Sub | 2154 | G=1.0000 | C=0.0000 |
| Allele Frequency Aggregator | Total | Global | 14050 | G=1.00000 | C=0.00000 |
| Allele Frequency Aggregator | European | Sub | 9690 | G=1.0000 | C=0.0000 |
| Allele Frequency Aggregator | African | Sub | 2898 | G=1.0000 | C=0.0000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 610 | G=1.000 | C=0.000 |
| Allele Frequency Aggregator | Other | Sub | 496 | G=1.000 | C=0.000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 146 | G=1.000 | C=0.000 |
| Allele Frequency Aggregator | Asian | Sub | 112 | G=1.000 | C=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 98 | G=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 3 | NC_000003.12:g.9688980G>C |
| GRCh37.p13 chr 3 | NC_000003.11:g.9730664G>C |
| MTMR14 RefSeqGene | NG_017068.1:g.44548G>C |
Gene: MTMR14, myotubularin related protein 14
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| MTMR14 transcript variant 2 | NM_001077525.3:c.1331G>C | S [AGC] > T [ACC] | Coding Sequence Variant |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 2 | NP_001070993.1:p.Ser444Thr | S (Ser) > T (Thr) | Missense Variant |
| MTMR14 transcript variant 1 | NM_001077526.3:c.1331G>C | S [AGC] > T [ACC] | Coding Sequence Variant |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 1 | NP_001070994.1:p.Ser444Thr | S (Ser) > T (Thr) | Missense Variant |
| MTMR14 transcript variant 3 | NM_022485.5:c.1331G>C | S [AGC] > T [ACC] | Coding Sequence Variant |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 3 | NP_071930.2:p.Ser444Thr | S (Ser) > T (Thr) | Missense Variant |
| MTMR14 transcript variant 13 | NM_001400527.1:c.1085G>C | S [AGC] > T [ACC] | Coding Sequence Variant |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 13 | NP_001387456.1:p.Ser362Thr | S (Ser) > T (Thr) | Missense Variant |
| MTMR14 transcript variant 9 | NM_001400523.1:c.1256G>C | S [AGC] > T [ACC] | Coding Sequence Variant |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 9 | NP_001387452.1:p.Ser419Thr | S (Ser) > T (Thr) | Missense Variant |
| MTMR14 transcript variant 15 | NM_001400529.1:c.1049G>C | S [AGC] > T [ACC] | Coding Sequence Variant |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 15 | NP_001387458.1:p.Ser350Thr | S (Ser) > T (Thr) | Missense Variant |
| MTMR14 transcript variant 30 | NM_001400544.1:c.470G>C | S [AGC] > T [ACC] | Coding Sequence Variant |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 24 | NP_001387473.1:p.Ser157Thr | S (Ser) > T (Thr) | Missense Variant |
| MTMR14 transcript variant 31 | NM_001400545.1:c.689G>C | S [AGC] > T [ACC] | Coding Sequence Variant |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 25 | NP_001387474.1:p.Ser230Thr | S (Ser) > T (Thr) | Missense Variant |
| MTMR14 transcript variant 35 | NM_001400549.1:c.614G>C | S [AGC] > T [ACC] | Coding Sequence Variant |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 27 | NP_001387478.1:p.Ser205Thr | S (Ser) > T (Thr) | Missense Variant |
| MTMR14 transcript variant 22 | NM_001400536.1:c.1010G>C | S [AGC] > T [ACC] | Coding Sequence Variant |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 20 | NP_001387465.1:p.Ser337Thr | S (Ser) > T (Thr) | Missense Variant |
| MTMR14 transcript variant 24 | NM_001400538.1:c.614G>C | S [AGC] > T [ACC] | Coding Sequence Variant |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 22 | NP_001387467.1:p.Ser205Thr | S (Ser) > T (Thr) | Missense Variant |
| MTMR14 transcript variant 11 | NM_001400525.1:c.1049G>C | S [AGC] > T [ACC] | Coding Sequence Variant |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 11 | NP_001387454.1:p.Ser350Thr | S (Ser) > T (Thr) | Missense Variant |
| MTMR14 transcript variant 20 | NM_001400534.1:c.689G>C | S [AGC] > T [ACC] | Coding Sequence Variant |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 19 | NP_001387463.1:p.Ser230Thr | S (Ser) > T (Thr) | Missense Variant |
| MTMR14 transcript variant 16 | NM_001400530.1:c.1085G>C | S [AGC] > T [ACC] | Coding Sequence Variant |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 16 | NP_001387459.1:p.Ser362Thr | S (Ser) > T (Thr) | Missense Variant |
| MTMR14 transcript variant 32 | NM_001400546.1:c.689G>C | S [AGC] > T [ACC] | Coding Sequence Variant |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 25 | NP_001387475.1:p.Ser230Thr | S (Ser) > T (Thr) | Missense Variant |
| MTMR14 transcript variant 23 | NM_001400537.1:c.974G>C | S [AGC] > T [ACC] | Coding Sequence Variant |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 21 | NP_001387466.1:p.Ser325Thr | S (Ser) > T (Thr) | Missense Variant |
| MTMR14 transcript variant 34 | NM_001400548.1:c.470G>C | S [AGC] > T [ACC] | Coding Sequence Variant |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 26 | NP_001387477.1:p.Ser157Thr | S (Ser) > T (Thr) | Missense Variant |
| MTMR14 transcript variant 36 | NM_001400550.1:c.470G>C | S [AGC] > T [ACC] | Coding Sequence Variant |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 28 | NP_001387479.1:p.Ser157Thr | S (Ser) > T (Thr) | Missense Variant |
| MTMR14 transcript variant 6 | NM_001400520.1:c.1256G>C | S [AGC] > T [ACC] | Coding Sequence Variant |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 6 | NP_001387449.1:p.Ser419Thr | S (Ser) > T (Thr) | Missense Variant |
| MTMR14 transcript variant 5 | NM_001400519.1:c.1328G>C | S [AGC] > T [ACC] | Coding Sequence Variant |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 5 | NP_001387448.1:p.Ser443Thr | S (Ser) > T (Thr) | Missense Variant |
| MTMR14 transcript variant 25 | NM_001400539.1:c.689G>C | S [AGC] > T [ACC] | Coding Sequence Variant |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 23 | NP_001387468.1:p.Ser230Thr | S (Ser) > T (Thr) | Missense Variant |
| MTMR14 transcript variant 8 | NM_001400522.1:c.1328G>C | S [AGC] > T [ACC] | Coding Sequence Variant |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 8 | NP_001387451.1:p.Ser443Thr | S (Ser) > T (Thr) | Missense Variant |
| MTMR14 transcript variant 18 | NM_001400532.1:c.1049G>C | S [AGC] > T [ACC] | Coding Sequence Variant |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 18 | NP_001387461.1:p.Ser350Thr | S (Ser) > T (Thr) | Missense Variant |
| MTMR14 transcript variant 28 | NM_001400542.1:c.689G>C | S [AGC] > T [ACC] | Coding Sequence Variant |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 23 | NP_001387471.1:p.Ser230Thr | S (Ser) > T (Thr) | Missense Variant |
| MTMR14 transcript variant 14 | NM_001400528.1:c.1256G>C | S [AGC] > T [ACC] | Coding Sequence Variant |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 14 | NP_001387457.1:p.Ser419Thr | S (Ser) > T (Thr) | Missense Variant |
| MTMR14 transcript variant 33 | NM_001400547.1:c.470G>C | S [AGC] > T [ACC] | Coding Sequence Variant |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 26 | NP_001387476.1:p.Ser157Thr | S (Ser) > T (Thr) | Missense Variant |
| MTMR14 transcript variant 7 | NM_001400521.1:c.1400G>C | S [AGC] > T [ACC] | Coding Sequence Variant |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 7 | NP_001387450.1:p.Ser467Thr | S (Ser) > T (Thr) | Missense Variant |
| MTMR14 transcript variant 10 | NM_001400524.1:c.1085G>C | S [AGC] > T [ACC] | Coding Sequence Variant |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 10 | NP_001387453.1:p.Ser362Thr | S (Ser) > T (Thr) | Missense Variant |
| MTMR14 transcript variant 17 | NM_001400531.1:c.1082G>C | S [AGC] > T [ACC] | Coding Sequence Variant |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 17 | NP_001387460.1:p.Ser361Thr | S (Ser) > T (Thr) | Missense Variant |
| MTMR14 transcript variant 19 | NM_001400533.1:c.689G>C | S [AGC] > T [ACC] | Coding Sequence Variant |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 19 | NP_001387462.1:p.Ser230Thr | S (Ser) > T (Thr) | Missense Variant |
| MTMR14 transcript variant 4 | NM_001400518.1:c.1400G>C | S [AGC] > T [ACC] | Coding Sequence Variant |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 4 | NP_001387447.1:p.Ser467Thr | S (Ser) > T (Thr) | Missense Variant |
| MTMR14 transcript variant 26 | NM_001400540.1:c.689G>C | S [AGC] > T [ACC] | Coding Sequence Variant |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 23 | NP_001387469.1:p.Ser230Thr | S (Ser) > T (Thr) | Missense Variant |
| MTMR14 transcript variant 12 | NM_001400526.1:c.1325G>C | S [AGC] > T [ACC] | Coding Sequence Variant |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 12 | NP_001387455.1:p.Ser442Thr | S (Ser) > T (Thr) | Missense Variant |
| MTMR14 transcript variant 29 | NM_001400543.1:c.689G>C | S [AGC] > T [ACC] | Coding Sequence Variant |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 23 | NP_001387472.1:p.Ser230Thr | S (Ser) > T (Thr) | Missense Variant |
| MTMR14 transcript variant 27 | NM_001400541.1:c.689G>C | S [AGC] > T [ACC] | Coding Sequence Variant |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 23 | NP_001387470.1:p.Ser230Thr | S (Ser) > T (Thr) | Missense Variant |
| MTMR14 transcript variant 21 | NM_001400535.1:c.689G>C | S [AGC] > T [ACC] | Coding Sequence Variant |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 19 | NP_001387464.1:p.Ser230Thr | S (Ser) > T (Thr) | Missense Variant |
| MTMR14 transcript variant 41 | NR_174507.1:n.1264G>C | N/A | Non Coding Transcript Variant |
| MTMR14 transcript variant 44 | NR_174510.1:n.1261G>C | N/A | Non Coding Transcript Variant |
| MTMR14 transcript variant 45 | NR_174511.1:n.1334G>C | N/A | Non Coding Transcript Variant |
| MTMR14 transcript variant 38 | NR_174504.1:n.1410G>C | N/A | Non Coding Transcript Variant |
| MTMR14 transcript variant 37 | NR_174503.1:n.1335G>C | N/A | Non Coding Transcript Variant |
| MTMR14 transcript variant 42 | NR_174508.1:n.1264G>C | N/A | Non Coding Transcript Variant |
| MTMR14 transcript variant 43 | NR_174509.1:n.1164G>C | N/A | Non Coding Transcript Variant |
| MTMR14 transcript variant 40 | NR_174506.1:n.1198G>C | N/A | Non Coding Transcript Variant |
| MTMR14 transcript variant 39 | NR_174505.1:n.1018G>C | N/A | Non Coding Transcript Variant |
| MTMR14 transcript variant X2 | XM_017007041.2:c.974G>C | S [AGC] > T [ACC] | Coding Sequence Variant |
| myotubularin-related protein 14 isoform X1 | XP_016862530.1:p.Ser325Thr | S (Ser) > T (Thr) | Missense Variant |
| MTMR14 transcript variant X3 | XM_011534013.2:c.968G>C | S [AGC] > T [ACC] | Coding Sequence Variant |
| myotubularin-related protein 14 isoform X2 | XP_011532315.1:p.Ser323Thr | S (Ser) > T (Thr) | Missense Variant |
| MTMR14 transcript variant X4 | XM_047448719.1:c.974G>C | S [AGC] > T [ACC] | Coding Sequence Variant |
| myotubularin-related protein 14 isoform X3 | XP_047304675.1:p.Ser325Thr | S (Ser) > T (Thr) | Missense Variant |
| MTMR14 transcript variant X1 | XR_007095717.1:n.1410G>C | N/A | Non Coding Transcript Variant |
| MTMR14 transcript variant X5 | XR_007095718.1:n.1410G>C | N/A | Non Coding Transcript Variant |
| MTMR14 transcript variant X6 | XR_007095719.1:n.1374G>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 | G= | C |
|---|---|---|
| GRCh38.p14 chr 3 | NC_000003.12:g.9688980= | NC_000003.12:g.9688980G>C |
| GRCh37.p13 chr 3 | NC_000003.11:g.9730664= | NC_000003.11:g.9730664G>C |
| MTMR14 RefSeqGene | NG_017068.1:g.44548= | NG_017068.1:g.44548G>C |
| MTMR14 transcript variant 3 | NM_022485.5:c.1331= | NM_022485.5:c.1331G>C |
| MTMR14 transcript variant 3 | NM_022485.4:c.1331= | NM_022485.4:c.1331G>C |
| MTMR14 transcript variant 2 | NM_001077525.3:c.1331= | NM_001077525.3:c.1331G>C |
| MTMR14 transcript variant 2 | NM_001077525.2:c.1331= | NM_001077525.2:c.1331G>C |
| MTMR14 transcript variant 1 | NM_001077526.3:c.1331= | NM_001077526.3:c.1331G>C |
| MTMR14 transcript variant 1 | NM_001077526.2:c.1331= | NM_001077526.2:c.1331G>C |
| MTMR14 transcript variant 4 | NM_001400518.1:c.1400= | NM_001400518.1:c.1400G>C |
| MTMR14 transcript variant 7 | NM_001400521.1:c.1400= | NM_001400521.1:c.1400G>C |
| MTMR14 transcript variant 5 | NM_001400519.1:c.1328= | NM_001400519.1:c.1328G>C |
| MTMR14 transcript variant 28 | NM_001400542.1:c.689= | NM_001400542.1:c.689G>C |
| MTMR14 transcript variant 6 | NM_001400520.1:c.1256= | NM_001400520.1:c.1256G>C |
| MTMR14 transcript variant 20 | NM_001400534.1:c.689= | NM_001400534.1:c.689G>C |
| MTMR14 transcript variant 19 | NM_001400533.1:c.689= | NM_001400533.1:c.689G>C |
| MTMR14 transcript variant 11 | NM_001400525.1:c.1049= | NM_001400525.1:c.1049G>C |
| MTMR14 transcript variant 24 | NM_001400538.1:c.614= | NM_001400538.1:c.614G>C |
| MTMR14 transcript variant 8 | NM_001400522.1:c.1328= | NM_001400522.1:c.1328G>C |
| MTMR14 transcript variant 38 | NR_174504.1:n.1410= | NR_174504.1:n.1410G>C |
| MTMR14 transcript variant 12 | NM_001400526.1:c.1325= | NM_001400526.1:c.1325G>C |
| MTMR14 transcript variant 9 | NM_001400523.1:c.1256= | NM_001400523.1:c.1256G>C |
| MTMR14 transcript variant 27 | NM_001400541.1:c.689= | NM_001400541.1:c.689G>C |
| MTMR14 transcript variant 10 | NM_001400524.1:c.1085= | NM_001400524.1:c.1085G>C |
| MTMR14 transcript variant 37 | NR_174503.1:n.1335= | NR_174503.1:n.1335G>C |
| MTMR14 transcript variant 45 | NR_174511.1:n.1334= | NR_174511.1:n.1334G>C |
| MTMR14 transcript variant 26 | NM_001400540.1:c.689= | NM_001400540.1:c.689G>C |
| MTMR14 transcript variant 30 | NM_001400544.1:c.470= | NM_001400544.1:c.470G>C |
| MTMR14 transcript variant 21 | NM_001400535.1:c.689= | NM_001400535.1:c.689G>C |
| MTMR14 transcript variant 25 | NM_001400539.1:c.689= | NM_001400539.1:c.689G>C |
| MTMR14 transcript variant 33 | NM_001400547.1:c.470= | NM_001400547.1:c.470G>C |
| MTMR14 transcript variant 15 | NM_001400529.1:c.1049= | NM_001400529.1:c.1049G>C |
| MTMR14 transcript variant 41 | NR_174507.1:n.1264= | NR_174507.1:n.1264G>C |
| MTMR14 transcript variant 44 | NR_174510.1:n.1261= | NR_174510.1:n.1261G>C |
| MTMR14 transcript variant 34 | NM_001400548.1:c.470= | NM_001400548.1:c.470G>C |
| MTMR14 transcript variant 40 | NR_174506.1:n.1198= | NR_174506.1:n.1198G>C |
| MTMR14 transcript variant 13 | NM_001400527.1:c.1085= | NM_001400527.1:c.1085G>C |
| MTMR14 transcript variant 14 | NM_001400528.1:c.1256= | NM_001400528.1:c.1256G>C |
| MTMR14 transcript variant 32 | NM_001400546.1:c.689= | NM_001400546.1:c.689G>C |
| MTMR14 transcript variant 43 | NR_174509.1:n.1164= | NR_174509.1:n.1164G>C |
| MTMR14 transcript variant 29 | NM_001400543.1:c.689= | NM_001400543.1:c.689G>C |
| MTMR14 transcript variant 31 | NM_001400545.1:c.689= | NM_001400545.1:c.689G>C |
| MTMR14 transcript variant 42 | NR_174508.1:n.1264= | NR_174508.1:n.1264G>C |
| MTMR14 transcript variant 18 | NM_001400532.1:c.1049= | NM_001400532.1:c.1049G>C |
| MTMR14 transcript variant 35 | NM_001400549.1:c.614= | NM_001400549.1:c.614G>C |
| MTMR14 transcript variant 23 | NM_001400537.1:c.974= | NM_001400537.1:c.974G>C |
| MTMR14 transcript variant 39 | NR_174505.1:n.1018= | NR_174505.1:n.1018G>C |
| MTMR14 transcript variant 16 | NM_001400530.1:c.1085= | NM_001400530.1:c.1085G>C |
| MTMR14 transcript variant 17 | NM_001400531.1:c.1082= | NM_001400531.1:c.1082G>C |
| MTMR14 transcript variant 22 | NM_001400536.1:c.1010= | NM_001400536.1:c.1010G>C |
| MTMR14 transcript variant 36 | NM_001400550.1:c.470= | NM_001400550.1:c.470G>C |
| MTMR14 transcript variant X2 | XM_017007041.2:c.974= | XM_017007041.2:c.974G>C |
| MTMR14 transcript variant X10 | XM_017007041.1:c.974= | XM_017007041.1:c.974G>C |
| MTMR14 transcript variant X3 | XM_011534013.2:c.968= | XM_011534013.2:c.968G>C |
| MTMR14 transcript variant X11 | XM_011534013.1:c.968= | XM_011534013.1:c.968G>C |
| MTMR14 transcript variant X1 | XR_007095717.1:n.1410= | XR_007095717.1:n.1410G>C |
| MTMR14 transcript variant X5 | XR_007095718.1:n.1410= | XR_007095718.1:n.1410G>C |
| MTMR14 transcript variant X6 | XR_007095719.1:n.1374= | XR_007095719.1:n.1374G>C |
| MTMR14 transcript variant X4 | XM_047448719.1:c.974= | XM_047448719.1:c.974G>C |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 3 | NP_071930.2:p.Ser444= | NP_071930.2:p.Ser444Thr |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 2 | NP_001070993.1:p.Ser444= | NP_001070993.1:p.Ser444Thr |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 1 | NP_001070994.1:p.Ser444= | NP_001070994.1:p.Ser444Thr |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 4 | NP_001387447.1:p.Ser467= | NP_001387447.1:p.Ser467Thr |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 7 | NP_001387450.1:p.Ser467= | NP_001387450.1:p.Ser467Thr |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 5 | NP_001387448.1:p.Ser443= | NP_001387448.1:p.Ser443Thr |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 23 | NP_001387471.1:p.Ser230= | NP_001387471.1:p.Ser230Thr |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 6 | NP_001387449.1:p.Ser419= | NP_001387449.1:p.Ser419Thr |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 19 | NP_001387463.1:p.Ser230= | NP_001387463.1:p.Ser230Thr |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 19 | NP_001387462.1:p.Ser230= | NP_001387462.1:p.Ser230Thr |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 11 | NP_001387454.1:p.Ser350= | NP_001387454.1:p.Ser350Thr |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 22 | NP_001387467.1:p.Ser205= | NP_001387467.1:p.Ser205Thr |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 8 | NP_001387451.1:p.Ser443= | NP_001387451.1:p.Ser443Thr |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 12 | NP_001387455.1:p.Ser442= | NP_001387455.1:p.Ser442Thr |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 9 | NP_001387452.1:p.Ser419= | NP_001387452.1:p.Ser419Thr |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 23 | NP_001387470.1:p.Ser230= | NP_001387470.1:p.Ser230Thr |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 10 | NP_001387453.1:p.Ser362= | NP_001387453.1:p.Ser362Thr |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 23 | NP_001387469.1:p.Ser230= | NP_001387469.1:p.Ser230Thr |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 24 | NP_001387473.1:p.Ser157= | NP_001387473.1:p.Ser157Thr |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 19 | NP_001387464.1:p.Ser230= | NP_001387464.1:p.Ser230Thr |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 23 | NP_001387468.1:p.Ser230= | NP_001387468.1:p.Ser230Thr |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 26 | NP_001387476.1:p.Ser157= | NP_001387476.1:p.Ser157Thr |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 15 | NP_001387458.1:p.Ser350= | NP_001387458.1:p.Ser350Thr |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 26 | NP_001387477.1:p.Ser157= | NP_001387477.1:p.Ser157Thr |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 13 | NP_001387456.1:p.Ser362= | NP_001387456.1:p.Ser362Thr |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 14 | NP_001387457.1:p.Ser419= | NP_001387457.1:p.Ser419Thr |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 25 | NP_001387475.1:p.Ser230= | NP_001387475.1:p.Ser230Thr |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 23 | NP_001387472.1:p.Ser230= | NP_001387472.1:p.Ser230Thr |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 25 | NP_001387474.1:p.Ser230= | NP_001387474.1:p.Ser230Thr |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 18 | NP_001387461.1:p.Ser350= | NP_001387461.1:p.Ser350Thr |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 27 | NP_001387478.1:p.Ser205= | NP_001387478.1:p.Ser205Thr |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 21 | NP_001387466.1:p.Ser325= | NP_001387466.1:p.Ser325Thr |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 16 | NP_001387459.1:p.Ser362= | NP_001387459.1:p.Ser362Thr |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 17 | NP_001387460.1:p.Ser361= | NP_001387460.1:p.Ser361Thr |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 20 | NP_001387465.1:p.Ser337= | NP_001387465.1:p.Ser337Thr |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 28 | NP_001387479.1:p.Ser157= | NP_001387479.1:p.Ser157Thr |
| myotubularin-related protein 14 isoform X1 | XP_016862530.1:p.Ser325= | XP_016862530.1:p.Ser325Thr |
| myotubularin-related protein 14 isoform X2 | XP_011532315.1:p.Ser323= | XP_011532315.1:p.Ser323Thr |
| myotubularin-related protein 14 isoform X3 | XP_047304675.1:p.Ser325= | XP_047304675.1:p.Ser325Thr |
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,
3 Frequency
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | GNOMAD | ss4065645584 | Apr 27, 2021 (155) |
| 2 | TOPMED | ss4553803938 | Apr 27, 2021 (155) |
| 3 | gnomAD - Genomes | NC_000003.12 - 9688980 | Apr 27, 2021 (155) |
| 4 | TopMed | NC_000003.12 - 9688980 | Apr 27, 2021 (155) |
| 5 | ALFA | NC_000003.12 - 9688980 | 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).
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 rs1464404431
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.