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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.

rs1483614090

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr3:9684605 (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
C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000024 (6/249588, GnomAD_exome)
T=0.000007 (1/140218, GnomAD)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
MTMR14 : Missense 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 249588 C=0.999976 T=0.000024
gnomAD - Exomes European Sub 134858 C=0.999956 T=0.000044
gnomAD - Exomes Asian Sub 48580 C=1.00000 T=0.00000
gnomAD - Exomes American Sub 34528 C=1.00000 T=0.00000
gnomAD - Exomes African Sub 15486 C=1.00000 T=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10072 C=1.00000 T=0.00000
gnomAD - Exomes Other Sub 6064 C=1.0000 T=0.0000
gnomAD - Genomes Global Study-wide 140218 C=0.999993 T=0.000007
gnomAD - Genomes European Sub 75926 C=0.99999 T=0.00001
gnomAD - Genomes African Sub 42028 C=1.00000 T=0.00000
gnomAD - Genomes American Sub 13658 C=1.00000 T=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 C=1.0000 T=0.0000
gnomAD - Genomes East Asian Sub 3128 C=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2154 C=1.0000 T=0.0000
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.9684605C>T
GRCh37.p13 chr 3 NC_000003.11:g.9726289C>T
MTMR14 RefSeqGene NG_017068.1:g.40173C>T
Gene: MTMR14, myotubularin related protein 14 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
MTMR14 transcript variant 2 NM_001077525.3:c.985C>T H [CAC] > Y [TAC] Coding Sequence Variant
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 2 NP_001070993.1:p.His329Tyr H (His) > Y (Tyr) Missense Variant
MTMR14 transcript variant 1 NM_001077526.3:c.985C>T H [CAC] > Y [TAC] Coding Sequence Variant
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 1 NP_001070994.1:p.His329Tyr H (His) > Y (Tyr) Missense Variant
MTMR14 transcript variant 3 NM_022485.5:c.985C>T H [CAC] > Y [TAC] Coding Sequence Variant
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 3 NP_071930.2:p.His329Tyr H (His) > Y (Tyr) Missense Variant
MTMR14 transcript variant 13 NM_001400527.1:c.739C>T H [CAC] > Y [TAC] Coding Sequence Variant
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 13 NP_001387456.1:p.His247Tyr H (His) > Y (Tyr) Missense Variant
MTMR14 transcript variant 9 NM_001400523.1:c.910C>T H [CAC] > Y [TAC] Coding Sequence Variant
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 9 NP_001387452.1:p.His304Tyr H (His) > Y (Tyr) Missense Variant
MTMR14 transcript variant 15 NM_001400529.1:c.703C>T H [CAC] > Y [TAC] Coding Sequence Variant
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 15 NP_001387458.1:p.His235Tyr H (His) > Y (Tyr) Missense Variant
MTMR14 transcript variant 30 NM_001400544.1:c.124C>T H [CAC] > Y [TAC] Coding Sequence Variant
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 24 NP_001387473.1:p.His42Tyr H (His) > Y (Tyr) Missense Variant
MTMR14 transcript variant 31 NM_001400545.1:c.343C>T H [CAC] > Y [TAC] Coding Sequence Variant
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 25 NP_001387474.1:p.His115Tyr H (His) > Y (Tyr) Missense Variant
MTMR14 transcript variant 35 NM_001400549.1:c.268C>T H [CAC] > Y [TAC] Coding Sequence Variant
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 27 NP_001387478.1:p.His90Tyr H (His) > Y (Tyr) Missense Variant
MTMR14 transcript variant 22 NM_001400536.1:c.664C>T H [CAC] > Y [TAC] Coding Sequence Variant
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 20 NP_001387465.1:p.His222Tyr H (His) > Y (Tyr) Missense Variant
MTMR14 transcript variant 24 NM_001400538.1:c.268C>T H [CAC] > Y [TAC] Coding Sequence Variant
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 22 NP_001387467.1:p.His90Tyr H (His) > Y (Tyr) Missense Variant
MTMR14 transcript variant 11 NM_001400525.1:c.703C>T H [CAC] > Y [TAC] Coding Sequence Variant
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 11 NP_001387454.1:p.His235Tyr H (His) > Y (Tyr) Missense Variant
MTMR14 transcript variant 20 NM_001400534.1:c.343C>T H [CAC] > Y [TAC] Coding Sequence Variant
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 19 NP_001387463.1:p.His115Tyr H (His) > Y (Tyr) Missense Variant
MTMR14 transcript variant 16 NM_001400530.1:c.739C>T H [CAC] > Y [TAC] Coding Sequence Variant
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 16 NP_001387459.1:p.His247Tyr H (His) > Y (Tyr) Missense Variant
MTMR14 transcript variant 32 NM_001400546.1:c.343C>T H [CAC] > Y [TAC] Coding Sequence Variant
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 25 NP_001387475.1:p.His115Tyr H (His) > Y (Tyr) Missense Variant
MTMR14 transcript variant 23 NM_001400537.1:c.628C>T H [CAC] > Y [TAC] Coding Sequence Variant
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 21 NP_001387466.1:p.His210Tyr H (His) > Y (Tyr) Missense Variant
MTMR14 transcript variant 34 NM_001400548.1:c.124C>T H [CAC] > Y [TAC] Coding Sequence Variant
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 26 NP_001387477.1:p.His42Tyr H (His) > Y (Tyr) Missense Variant
MTMR14 transcript variant 36 NM_001400550.1:c.124C>T H [CAC] > Y [TAC] Coding Sequence Variant
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 28 NP_001387479.1:p.His42Tyr H (His) > Y (Tyr) Missense Variant
MTMR14 transcript variant 6 NM_001400520.1:c.910C>T H [CAC] > Y [TAC] Coding Sequence Variant
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 6 NP_001387449.1:p.His304Tyr H (His) > Y (Tyr) Missense Variant
MTMR14 transcript variant 5 NM_001400519.1:c.982C>T H [CAC] > Y [TAC] Coding Sequence Variant
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 5 NP_001387448.1:p.His328Tyr H (His) > Y (Tyr) Missense Variant
MTMR14 transcript variant 25 NM_001400539.1:c.343C>T H [CAC] > Y [TAC] Coding Sequence Variant
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 23 NP_001387468.1:p.His115Tyr H (His) > Y (Tyr) Missense Variant
MTMR14 transcript variant 8 NM_001400522.1:c.982C>T H [CAC] > Y [TAC] Coding Sequence Variant
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 8 NP_001387451.1:p.His328Tyr H (His) > Y (Tyr) Missense Variant
MTMR14 transcript variant 18 NM_001400532.1:c.703C>T H [CAC] > Y [TAC] Coding Sequence Variant
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 18 NP_001387461.1:p.His235Tyr H (His) > Y (Tyr) Missense Variant
MTMR14 transcript variant 28 NM_001400542.1:c.343C>T H [CAC] > Y [TAC] Coding Sequence Variant
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 23 NP_001387471.1:p.His115Tyr H (His) > Y (Tyr) Missense Variant
MTMR14 transcript variant 14 NM_001400528.1:c.910C>T H [CAC] > Y [TAC] Coding Sequence Variant
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 14 NP_001387457.1:p.His304Tyr H (His) > Y (Tyr) Missense Variant
MTMR14 transcript variant 33 NM_001400547.1:c.124C>T H [CAC] > Y [TAC] Coding Sequence Variant
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 26 NP_001387476.1:p.His42Tyr H (His) > Y (Tyr) Missense Variant
MTMR14 transcript variant 7 NM_001400521.1:c.1054C>T H [CAC] > Y [TAC] Coding Sequence Variant
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 7 NP_001387450.1:p.His352Tyr H (His) > Y (Tyr) Missense Variant
MTMR14 transcript variant 10 NM_001400524.1:c.739C>T H [CAC] > Y [TAC] Coding Sequence Variant
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 10 NP_001387453.1:p.His247Tyr H (His) > Y (Tyr) Missense Variant
MTMR14 transcript variant 17 NM_001400531.1:c.736C>T H [CAC] > Y [TAC] Coding Sequence Variant
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 17 NP_001387460.1:p.His246Tyr H (His) > Y (Tyr) Missense Variant
MTMR14 transcript variant 19 NM_001400533.1:c.343C>T H [CAC] > Y [TAC] Coding Sequence Variant
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 19 NP_001387462.1:p.His115Tyr H (His) > Y (Tyr) Missense Variant
MTMR14 transcript variant 4 NM_001400518.1:c.1054C>T H [CAC] > Y [TAC] Coding Sequence Variant
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 4 NP_001387447.1:p.His352Tyr H (His) > Y (Tyr) Missense Variant
MTMR14 transcript variant 26 NM_001400540.1:c.343C>T H [CAC] > Y [TAC] Coding Sequence Variant
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 23 NP_001387469.1:p.His115Tyr H (His) > Y (Tyr) Missense Variant
MTMR14 transcript variant 12 NM_001400526.1:c.979C>T H [CAC] > Y [TAC] Coding Sequence Variant
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 12 NP_001387455.1:p.His327Tyr H (His) > Y (Tyr) Missense Variant
MTMR14 transcript variant 29 NM_001400543.1:c.343C>T H [CAC] > Y [TAC] Coding Sequence Variant
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 23 NP_001387472.1:p.His115Tyr H (His) > Y (Tyr) Missense Variant
MTMR14 transcript variant 27 NM_001400541.1:c.343C>T H [CAC] > Y [TAC] Coding Sequence Variant
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 23 NP_001387470.1:p.His115Tyr H (His) > Y (Tyr) Missense Variant
MTMR14 transcript variant 21 NM_001400535.1:c.343C>T H [CAC] > Y [TAC] Coding Sequence Variant
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 19 NP_001387464.1:p.His115Tyr H (His) > Y (Tyr) Missense Variant
MTMR14 transcript variant 41 NR_174507.1:n.918C>T N/A Non Coding Transcript Variant
MTMR14 transcript variant 44 NR_174510.1:n.915C>T N/A Non Coding Transcript Variant
MTMR14 transcript variant 45 NR_174511.1:n.988C>T N/A Non Coding Transcript Variant
MTMR14 transcript variant 38 NR_174504.1:n.1064C>T N/A Non Coding Transcript Variant
MTMR14 transcript variant 37 NR_174503.1:n.989C>T N/A Non Coding Transcript Variant
MTMR14 transcript variant 42 NR_174508.1:n.918C>T N/A Non Coding Transcript Variant
MTMR14 transcript variant 43 NR_174509.1:n.818C>T N/A Non Coding Transcript Variant
MTMR14 transcript variant 40 NR_174506.1:n.852C>T N/A Non Coding Transcript Variant
MTMR14 transcript variant 39 NR_174505.1:n.672C>T N/A Non Coding Transcript Variant
MTMR14 transcript variant X2 XM_017007041.2:c.628C>T H [CAC] > Y [TAC] Coding Sequence Variant
myotubularin-related protein 14 isoform X1 XP_016862530.1:p.His210Tyr H (His) > Y (Tyr) Missense Variant
MTMR14 transcript variant X3 XM_011534013.2:c.622C>T H [CAC] > Y [TAC] Coding Sequence Variant
myotubularin-related protein 14 isoform X2 XP_011532315.1:p.His208Tyr H (His) > Y (Tyr) Missense Variant
MTMR14 transcript variant X4 XM_047448719.1:c.628C>T H [CAC] > Y [TAC] Coding Sequence Variant
myotubularin-related protein 14 isoform X3 XP_047304675.1:p.His210Tyr H (His) > Y (Tyr) Missense Variant
MTMR14 transcript variant X1 XR_007095717.1:n.1064C>T N/A Non Coding Transcript Variant
MTMR14 transcript variant X5 XR_007095718.1:n.1064C>T N/A Non Coding Transcript Variant
MTMR14 transcript variant X6 XR_007095719.1:n.1028C>T 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 C= T
GRCh38.p14 chr 3 NC_000003.12:g.9684605= NC_000003.12:g.9684605C>T
GRCh37.p13 chr 3 NC_000003.11:g.9726289= NC_000003.11:g.9726289C>T
MTMR14 RefSeqGene NG_017068.1:g.40173= NG_017068.1:g.40173C>T
MTMR14 transcript variant 3 NM_022485.5:c.985= NM_022485.5:c.985C>T
MTMR14 transcript variant 3 NM_022485.4:c.985= NM_022485.4:c.985C>T
MTMR14 transcript variant 2 NM_001077525.3:c.985= NM_001077525.3:c.985C>T
MTMR14 transcript variant 2 NM_001077525.2:c.985= NM_001077525.2:c.985C>T
MTMR14 transcript variant 1 NM_001077526.3:c.985= NM_001077526.3:c.985C>T
MTMR14 transcript variant 1 NM_001077526.2:c.985= NM_001077526.2:c.985C>T
MTMR14 transcript variant 4 NM_001400518.1:c.1054= NM_001400518.1:c.1054C>T
MTMR14 transcript variant 7 NM_001400521.1:c.1054= NM_001400521.1:c.1054C>T
MTMR14 transcript variant 5 NM_001400519.1:c.982= NM_001400519.1:c.982C>T
MTMR14 transcript variant 28 NM_001400542.1:c.343= NM_001400542.1:c.343C>T
MTMR14 transcript variant 6 NM_001400520.1:c.910= NM_001400520.1:c.910C>T
MTMR14 transcript variant 20 NM_001400534.1:c.343= NM_001400534.1:c.343C>T
MTMR14 transcript variant 19 NM_001400533.1:c.343= NM_001400533.1:c.343C>T
MTMR14 transcript variant 11 NM_001400525.1:c.703= NM_001400525.1:c.703C>T
MTMR14 transcript variant 24 NM_001400538.1:c.268= NM_001400538.1:c.268C>T
MTMR14 transcript variant 8 NM_001400522.1:c.982= NM_001400522.1:c.982C>T
MTMR14 transcript variant 38 NR_174504.1:n.1064= NR_174504.1:n.1064C>T
MTMR14 transcript variant 12 NM_001400526.1:c.979= NM_001400526.1:c.979C>T
MTMR14 transcript variant 9 NM_001400523.1:c.910= NM_001400523.1:c.910C>T
MTMR14 transcript variant 27 NM_001400541.1:c.343= NM_001400541.1:c.343C>T
MTMR14 transcript variant 10 NM_001400524.1:c.739= NM_001400524.1:c.739C>T
MTMR14 transcript variant 37 NR_174503.1:n.989= NR_174503.1:n.989C>T
MTMR14 transcript variant 45 NR_174511.1:n.988= NR_174511.1:n.988C>T
MTMR14 transcript variant 26 NM_001400540.1:c.343= NM_001400540.1:c.343C>T
MTMR14 transcript variant 30 NM_001400544.1:c.124= NM_001400544.1:c.124C>T
MTMR14 transcript variant 21 NM_001400535.1:c.343= NM_001400535.1:c.343C>T
MTMR14 transcript variant 25 NM_001400539.1:c.343= NM_001400539.1:c.343C>T
MTMR14 transcript variant 33 NM_001400547.1:c.124= NM_001400547.1:c.124C>T
MTMR14 transcript variant 15 NM_001400529.1:c.703= NM_001400529.1:c.703C>T
MTMR14 transcript variant 41 NR_174507.1:n.918= NR_174507.1:n.918C>T
MTMR14 transcript variant 44 NR_174510.1:n.915= NR_174510.1:n.915C>T
MTMR14 transcript variant 34 NM_001400548.1:c.124= NM_001400548.1:c.124C>T
MTMR14 transcript variant 40 NR_174506.1:n.852= NR_174506.1:n.852C>T
MTMR14 transcript variant 13 NM_001400527.1:c.739= NM_001400527.1:c.739C>T
MTMR14 transcript variant 14 NM_001400528.1:c.910= NM_001400528.1:c.910C>T
MTMR14 transcript variant 32 NM_001400546.1:c.343= NM_001400546.1:c.343C>T
MTMR14 transcript variant 43 NR_174509.1:n.818= NR_174509.1:n.818C>T
MTMR14 transcript variant 29 NM_001400543.1:c.343= NM_001400543.1:c.343C>T
MTMR14 transcript variant 31 NM_001400545.1:c.343= NM_001400545.1:c.343C>T
MTMR14 transcript variant 42 NR_174508.1:n.918= NR_174508.1:n.918C>T
MTMR14 transcript variant 18 NM_001400532.1:c.703= NM_001400532.1:c.703C>T
MTMR14 transcript variant 35 NM_001400549.1:c.268= NM_001400549.1:c.268C>T
MTMR14 transcript variant 23 NM_001400537.1:c.628= NM_001400537.1:c.628C>T
MTMR14 transcript variant 39 NR_174505.1:n.672= NR_174505.1:n.672C>T
MTMR14 transcript variant 16 NM_001400530.1:c.739= NM_001400530.1:c.739C>T
MTMR14 transcript variant 17 NM_001400531.1:c.736= NM_001400531.1:c.736C>T
MTMR14 transcript variant 22 NM_001400536.1:c.664= NM_001400536.1:c.664C>T
MTMR14 transcript variant 36 NM_001400550.1:c.124= NM_001400550.1:c.124C>T
MTMR14 transcript variant X2 XM_017007041.2:c.628= XM_017007041.2:c.628C>T
MTMR14 transcript variant X10 XM_017007041.1:c.628= XM_017007041.1:c.628C>T
MTMR14 transcript variant X3 XM_011534013.2:c.622= XM_011534013.2:c.622C>T
MTMR14 transcript variant X11 XM_011534013.1:c.622= XM_011534013.1:c.622C>T
MTMR14 transcript variant X1 XR_007095717.1:n.1064= XR_007095717.1:n.1064C>T
MTMR14 transcript variant X5 XR_007095718.1:n.1064= XR_007095718.1:n.1064C>T
MTMR14 transcript variant X6 XR_007095719.1:n.1028= XR_007095719.1:n.1028C>T
MTMR14 transcript variant X4 XM_047448719.1:c.628= XM_047448719.1:c.628C>T
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 3 NP_071930.2:p.His329= NP_071930.2:p.His329Tyr
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 2 NP_001070993.1:p.His329= NP_001070993.1:p.His329Tyr
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 1 NP_001070994.1:p.His329= NP_001070994.1:p.His329Tyr
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 4 NP_001387447.1:p.His352= NP_001387447.1:p.His352Tyr
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 7 NP_001387450.1:p.His352= NP_001387450.1:p.His352Tyr
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 5 NP_001387448.1:p.His328= NP_001387448.1:p.His328Tyr
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 23 NP_001387471.1:p.His115= NP_001387471.1:p.His115Tyr
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 6 NP_001387449.1:p.His304= NP_001387449.1:p.His304Tyr
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 19 NP_001387463.1:p.His115= NP_001387463.1:p.His115Tyr
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 19 NP_001387462.1:p.His115= NP_001387462.1:p.His115Tyr
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 11 NP_001387454.1:p.His235= NP_001387454.1:p.His235Tyr
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 22 NP_001387467.1:p.His90= NP_001387467.1:p.His90Tyr
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 8 NP_001387451.1:p.His328= NP_001387451.1:p.His328Tyr
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 12 NP_001387455.1:p.His327= NP_001387455.1:p.His327Tyr
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 9 NP_001387452.1:p.His304= NP_001387452.1:p.His304Tyr
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 23 NP_001387470.1:p.His115= NP_001387470.1:p.His115Tyr
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 10 NP_001387453.1:p.His247= NP_001387453.1:p.His247Tyr
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 23 NP_001387469.1:p.His115= NP_001387469.1:p.His115Tyr
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 24 NP_001387473.1:p.His42= NP_001387473.1:p.His42Tyr
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 19 NP_001387464.1:p.His115= NP_001387464.1:p.His115Tyr
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 23 NP_001387468.1:p.His115= NP_001387468.1:p.His115Tyr
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 26 NP_001387476.1:p.His42= NP_001387476.1:p.His42Tyr
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 15 NP_001387458.1:p.His235= NP_001387458.1:p.His235Tyr
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 26 NP_001387477.1:p.His42= NP_001387477.1:p.His42Tyr
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 13 NP_001387456.1:p.His247= NP_001387456.1:p.His247Tyr
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 14 NP_001387457.1:p.His304= NP_001387457.1:p.His304Tyr
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 25 NP_001387475.1:p.His115= NP_001387475.1:p.His115Tyr
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 23 NP_001387472.1:p.His115= NP_001387472.1:p.His115Tyr
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 25 NP_001387474.1:p.His115= NP_001387474.1:p.His115Tyr
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 18 NP_001387461.1:p.His235= NP_001387461.1:p.His235Tyr
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 27 NP_001387478.1:p.His90= NP_001387478.1:p.His90Tyr
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 21 NP_001387466.1:p.His210= NP_001387466.1:p.His210Tyr
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 16 NP_001387459.1:p.His247= NP_001387459.1:p.His247Tyr
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 17 NP_001387460.1:p.His246= NP_001387460.1:p.His246Tyr
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 20 NP_001387465.1:p.His222= NP_001387465.1:p.His222Tyr
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 28 NP_001387479.1:p.His42= NP_001387479.1:p.His42Tyr
myotubularin-related protein 14 isoform X1 XP_016862530.1:p.His210= XP_016862530.1:p.His210Tyr
myotubularin-related protein 14 isoform X2 XP_011532315.1:p.His208= XP_011532315.1:p.His208Tyr
myotubularin-related protein 14 isoform X3 XP_047304675.1:p.His210= XP_047304675.1:p.His210Tyr
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Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

3 SubSNP, 2 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2733522217 Nov 08, 2017 (151)
2 GNOMAD ss2746940352 Nov 08, 2017 (151)
3 GNOMAD ss2789393664 Nov 08, 2017 (151)
4 gnomAD - Genomes NC_000003.12 - 9684605 Apr 27, 2021 (155)
5 gnomAD - Exomes NC_000003.11 - 9726289 Jul 13, 2019 (153)
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History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
2593218, ss2733522217, ss2746940352, ss2789393664 NC_000003.11:9726288:C:T NC_000003.12:9684604:C:T (self)
98684899 NC_000003.12:9684604:C:T NC_000003.12:9684604:C:T (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1483614090

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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
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post820+afb47a3d