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.
rs1379239098
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr7:43639596 (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>G
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
G=0.000004 (1/264690, TOPMED)G=0.00007 (1/14050, ALFA)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- COA1 : 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 | C=0.99993 | G=0.00007 | 0.999858 | 0.0 | 0.000142 | 0 |
| European | Sub | 9690 | C=1.0000 | G=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| African | Sub | 2898 | C=0.9997 | G=0.0003 | 0.99931 | 0.0 | 0.00069 | 0 |
| African Others | Sub | 114 | C=1.000 | G=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| African American | Sub | 2784 | C=0.9996 | G=0.0004 | 0.999282 | 0.0 | 0.000718 | 0 |
| Asian | Sub | 112 | C=1.000 | G=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| East Asian | Sub | 86 | C=1.00 | G=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Other Asian | Sub | 26 | C=1.00 | G=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 1 | Sub | 146 | C=1.000 | G=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 2 | Sub | 610 | C=1.000 | G=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| South Asian | Sub | 98 | C=1.00 | G=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Other | Sub | 496 | C=1.000 | G=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 | C=0.999996 | G=0.000004 |
| Allele Frequency Aggregator | Total | Global | 14050 | C=0.99993 | G=0.00007 |
| Allele Frequency Aggregator | European | Sub | 9690 | C=1.0000 | G=0.0000 |
| Allele Frequency Aggregator | African | Sub | 2898 | C=0.9997 | G=0.0003 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 610 | C=1.000 | G=0.000 |
| Allele Frequency Aggregator | Other | Sub | 496 | C=1.000 | G=0.000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 146 | C=1.000 | G=0.000 |
| Allele Frequency Aggregator | Asian | Sub | 112 | C=1.000 | G=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 98 | C=1.00 | G=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 7 | NC_000007.14:g.43639596C>G |
| GRCh37.p13 chr 7 | NC_000007.13:g.43679195C>G |
Gene: COA1, cytochrome c oxidase assembly factor 1
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| COA1 transcript variant 8 | NM_001321202.2:c. | N/A | Genic Downstream Transcript Variant |
| COA1 transcript variant 9 | NM_001321203.2:c. | N/A | Genic Downstream Transcript Variant |
| COA1 transcript variant 10 | NM_001321204.2:c. | N/A | Genic Downstream Transcript Variant |
| COA1 transcript variant 11 | NM_001321205.2:c. | N/A | Genic Downstream Transcript Variant |
| COA1 transcript variant 38 | NM_001371318.1:c.415G>C | V [GTG] > L [CTG] | Coding Sequence Variant |
| cytochrome c oxidase assembly factor 1 homolog isoform e | NP_001358247.1:p.Val139Leu | V (Val) > L (Leu) | Missense Variant |
| COA1 transcript variant 37 | NM_001371317.1:c.409G>C | V [GTG] > L [CTG] | Coding Sequence Variant |
| cytochrome c oxidase assembly factor 1 homolog isoform d | NP_001358246.1:p.Val137Leu | V (Val) > L (Leu) | Missense Variant |
| COA1 transcript variant 36 | NM_001371316.1:c.427G>C | V [GTG] > L [CTG] | Coding Sequence Variant |
| cytochrome c oxidase assembly factor 1 homolog isoform a | NP_001358245.1:p.Val143Leu | V (Val) > L (Leu) | Missense Variant |
| COA1 transcript variant 35 | NM_001371315.1:c.427G>C | V [GTG] > L [CTG] | Coding Sequence Variant |
| cytochrome c oxidase assembly factor 1 homolog isoform a | NP_001358244.1:p.Val143Leu | V (Val) > L (Leu) | Missense Variant |
| COA1 transcript variant 34 | NM_001371314.1:c.427G>C | V [GTG] > L [CTG] | Coding Sequence Variant |
| cytochrome c oxidase assembly factor 1 homolog isoform a | NP_001358243.1:p.Val143Leu | V (Val) > L (Leu) | Missense Variant |
| COA1 transcript variant 32 | NM_001371312.1:c.427G>C | V [GTG] > L [CTG] | Coding Sequence Variant |
| cytochrome c oxidase assembly factor 1 homolog isoform a | NP_001358241.1:p.Val143Leu | V (Val) > L (Leu) | Missense Variant |
| COA1 transcript variant 33 | NM_001371313.1:c.427G>C | V [GTG] > L [CTG] | Coding Sequence Variant |
| cytochrome c oxidase assembly factor 1 homolog isoform a | NP_001358242.1:p.Val143Leu | V (Val) > L (Leu) | Missense Variant |
| COA1 transcript variant 31 | NM_001371311.1:c.427G>C | V [GTG] > L [CTG] | Coding Sequence Variant |
| cytochrome c oxidase assembly factor 1 homolog isoform a | NP_001358240.1:p.Val143Leu | V (Val) > L (Leu) | Missense Variant |
| COA1 transcript variant 30 | NM_001371310.1:c.427G>C | V [GTG] > L [CTG] | Coding Sequence Variant |
| cytochrome c oxidase assembly factor 1 homolog isoform a | NP_001358239.1:p.Val143Leu | V (Val) > L (Leu) | Missense Variant |
| COA1 transcript variant 29 | NM_001371309.1:c.427G>C | V [GTG] > L [CTG] | Coding Sequence Variant |
| cytochrome c oxidase assembly factor 1 homolog isoform a | NP_001358238.1:p.Val143Leu | V (Val) > L (Leu) | Missense Variant |
| COA1 transcript variant 28 | NM_001371308.1:c.427G>C | V [GTG] > L [CTG] | Coding Sequence Variant |
| cytochrome c oxidase assembly factor 1 homolog isoform a | NP_001358237.1:p.Val143Leu | V (Val) > L (Leu) | Missense Variant |
| COA1 transcript variant 27 | NM_001371307.1:c.427G>C | V [GTG] > L [CTG] | Coding Sequence Variant |
| cytochrome c oxidase assembly factor 1 homolog isoform a | NP_001358236.1:p.Val143Leu | V (Val) > L (Leu) | Missense Variant |
| COA1 transcript variant 17 | NM_001350925.2:c.427G>C | V [GTG] > L [CTG] | Coding Sequence Variant |
| cytochrome c oxidase assembly factor 1 homolog isoform a | NP_001337854.1:p.Val143Leu | V (Val) > L (Leu) | Missense Variant |
| COA1 transcript variant 7 | NM_001321201.2:c.391G>C | V [GTG] > L [CTG] | Coding Sequence Variant |
| cytochrome c oxidase assembly factor 1 homolog isoform b | NP_001308130.1:p.Val131Leu | V (Val) > L (Leu) | Missense Variant |
| COA1 transcript variant 5 | NM_001321199.2:c.427G>C | V [GTG] > L [CTG] | Coding Sequence Variant |
| cytochrome c oxidase assembly factor 1 homolog isoform a | NP_001308128.1:p.Val143Leu | V (Val) > L (Leu) | Missense Variant |
| COA1 transcript variant 1 | NM_018224.4:c.427G>C | V [GTG] > L [CTG] | Coding Sequence Variant |
| cytochrome c oxidase assembly factor 1 homolog isoform a | NP_060694.2:p.Val143Leu | V (Val) > L (Leu) | Missense Variant |
| COA1 transcript variant 18 | NM_001350926.2:c.427G>C | V [GTG] > L [CTG] | Coding Sequence Variant |
| cytochrome c oxidase assembly factor 1 homolog isoform a | NP_001337855.1:p.Val143Leu | V (Val) > L (Leu) | Missense Variant |
| COA1 transcript variant 3 | NM_001321197.2:c.427G>C | V [GTG] > L [CTG] | Coding Sequence Variant |
| cytochrome c oxidase assembly factor 1 homolog isoform a | NP_001308126.1:p.Val143Leu | V (Val) > L (Leu) | Missense Variant |
| COA1 transcript variant 20 | NM_001350928.2:c.409G>C | V [GTG] > L [CTG] | Coding Sequence Variant |
| cytochrome c oxidase assembly factor 1 homolog isoform d | NP_001337857.1:p.Val137Leu | V (Val) > L (Leu) | Missense Variant |
| COA1 transcript variant 6 | NM_001321200.2:c.427G>C | V [GTG] > L [CTG] | Coding Sequence Variant |
| cytochrome c oxidase assembly factor 1 homolog isoform a | NP_001308129.1:p.Val143Leu | V (Val) > L (Leu) | Missense Variant |
| COA1 transcript variant 16 | NM_001350924.2:c.427G>C | V [GTG] > L [CTG] | Coding Sequence Variant |
| cytochrome c oxidase assembly factor 1 homolog isoform a | NP_001337853.1:p.Val143Leu | V (Val) > L (Leu) | Missense Variant |
| COA1 transcript variant 4 | NM_001321198.2:c.427G>C | V [GTG] > L [CTG] | Coding Sequence Variant |
| cytochrome c oxidase assembly factor 1 homolog isoform a | NP_001308127.1:p.Val143Leu | V (Val) > L (Leu) | Missense Variant |
| COA1 transcript variant 19 | NM_001350927.2:c.427G>C | V [GTG] > L [CTG] | Coding Sequence Variant |
| cytochrome c oxidase assembly factor 1 homolog isoform a | NP_001337856.1:p.Val143Leu | V (Val) > L (Leu) | Missense Variant |
| COA1 transcript variant 24 | NR_146943.2:n.553G>C | N/A | Non Coding Transcript Variant |
| COA1 transcript variant 23 | NR_146942.2:n.625G>C | N/A | Non Coding Transcript Variant |
| COA1 transcript variant 21 | NR_146940.2:n.411G>C | N/A | Non Coding Transcript Variant |
| COA1 transcript variant 22 | NR_146941.2:n.675G>C | N/A | Non Coding Transcript Variant |
| COA1 transcript variant 25 | NR_146944.2:n.625G>C | N/A | Non Coding Transcript Variant |
| COA1 transcript variant 26 | NR_146945.2:n.560G>C | N/A | Non Coding Transcript Variant |
| COA1 transcript variant 42 | NR_163918.1:n.610G>C | N/A | Non Coding Transcript Variant |
| COA1 transcript variant 43 | NR_163919.1:n.666G>C | N/A | Non Coding Transcript Variant |
| COA1 transcript variant 39 | NR_163915.1:n.565G>C | N/A | Non Coding Transcript Variant |
| COA1 transcript variant 40 | NR_163916.1:n.625G>C | N/A | Non Coding Transcript Variant |
| COA1 transcript variant 41 | NR_163917.1:n.625G>C | N/A | Non Coding Transcript Variant |
| COA1 transcript variant 2 | NR_163914.1:n.625G>C | N/A | Non Coding Transcript Variant |
| COA1 transcript variant 12 | NR_135580.2:n.661G>C | N/A | Non Coding Transcript Variant |
| COA1 transcript variant 15 | NR_135583.2:n.560G>C | N/A | Non Coding Transcript Variant |
| COA1 transcript variant 13 | NR_135581.2:n.661G>C | N/A | Non Coding Transcript Variant |
| COA1 transcript variant 14 | NR_135582.2:n.560G>C | N/A | Non Coding Transcript Variant |
| COA1 transcript variant X11 | XM_047420603.1:c.427G>C | V [GTG] > L [CTG] | Coding Sequence Variant |
| cytochrome c oxidase assembly factor 1 homolog isoform X1 | XP_047276559.1:p.Val143Leu | V (Val) > L (Leu) | Missense Variant |
| COA1 transcript variant X13 | XM_047420604.1:c.427G>C | V [GTG] > L [CTG] | Coding Sequence Variant |
| cytochrome c oxidase assembly factor 1 homolog isoform X1 | XP_047276560.1:p.Val143Leu | V (Val) > L (Leu) | Missense Variant |
| COA1 transcript variant X16 | XM_047420605.1:c.427G>C | V [GTG] > L [CTG] | Coding Sequence Variant |
| cytochrome c oxidase assembly factor 1 homolog isoform X1 | XP_047276561.1:p.Val143Leu | V (Val) > L (Leu) | Missense Variant |
| COA1 transcript variant X1 | XR_007060076.1:n.560G>C | N/A | Non Coding Transcript Variant |
| COA1 transcript variant X2 | XR_007060077.1:n.560G>C | N/A | Non Coding Transcript Variant |
| COA1 transcript variant X3 | XR_007060078.1:n.560G>C | N/A | Non Coding Transcript Variant |
| COA1 transcript variant X4 | XR_007060079.1:n.560G>C | N/A | Non Coding Transcript Variant |
| COA1 transcript variant X5 | XR_007060080.1:n.560G>C | N/A | Non Coding Transcript Variant |
| COA1 transcript variant X6 | XR_007060081.1:n.560G>C | N/A | Non Coding Transcript Variant |
| COA1 transcript variant X7 | XR_007060082.1:n.560G>C | N/A | Non Coding Transcript Variant |
| COA1 transcript variant X8 | XR_007060083.1:n.560G>C | N/A | Non Coding Transcript Variant |
| COA1 transcript variant X9 | XR_007060084.1:n.560G>C | N/A | Non Coding Transcript Variant |
| COA1 transcript variant X10 | XR_007060085.1:n.560G>C | N/A | Non Coding Transcript Variant |
| COA1 transcript variant X12 | XR_007060086.1:n.560G>C | N/A | Non Coding Transcript Variant |
| COA1 transcript variant X14 | XR_007060087.1:n.661G>C | N/A | Non Coding Transcript Variant |
| COA1 transcript variant X15 | XR_007060088.1:n.780G>C | N/A | Non Coding Transcript Variant |
| COA1 transcript variant X17 | XR_007060089.1:n.1834G>C | N/A | Non Coding Transcript Variant |
| COA1 transcript variant X18 | XR_007060090.1:n.782G>C | N/A | Non Coding Transcript Variant |
| COA1 transcript variant X19 | XR_007060091.1:n.631G>C | N/A | Non Coding Transcript Variant |
| COA1 transcript variant X20 | XR_007060092.1:n.901G>C | N/A | Non Coding Transcript Variant |
| COA1 transcript variant X21 | XR_007060093.1:n.661G>C | N/A | Non Coding Transcript Variant |
| COA1 transcript variant X22 | XR_007060094.1:n.590G>C | N/A | Non Coding Transcript Variant |
| COA1 transcript variant X23 | XR_007060095.1:n.681G>C | N/A | Non Coding Transcript Variant |
| COA1 transcript variant X24 | XR_007060096.1:n.780G>C | N/A | Non Coding Transcript Variant |
| COA1 transcript variant X25 | XR_007060097.1:n.661G>C | N/A | Non Coding Transcript Variant |
| COA1 transcript variant X26 | XR_007060098.1:n.780G>C | N/A | Non Coding Transcript Variant |
| COA1 transcript variant X27 | XR_007060099.1:n.750G>C | N/A | Non Coding Transcript Variant |
| COA1 transcript variant X28 | XR_007060100.1:n.780G>C | N/A | Non Coding Transcript Variant |
| COA1 transcript variant X29 | XR_007060101.1:n.584G>C | N/A | Non Coding Transcript Variant |
| COA1 transcript variant X30 | XR_007060102.1:n.780G>C | N/A | Non Coding Transcript Variant |
| COA1 transcript variant X31 | XR_007060103.1:n.610G>C | N/A | Non Coding Transcript Variant |
| COA1 transcript variant X32 | XR_007060104.1:n.530G>C | N/A | Non Coding Transcript Variant |
| COA1 transcript variant X33 | XR_007060105.1:n.661G>C | N/A | Non Coding Transcript Variant |
| COA1 transcript variant X34 | XR_007060106.1:n.1834G>C | N/A | Non Coding Transcript Variant |
| COA1 transcript variant X35 | XR_007060107.1:n.782G>C | N/A | Non Coding Transcript Variant |
| COA1 transcript variant X36 | XR_007060108.1:n.955G>C | N/A | Non Coding Transcript Variant |
| COA1 transcript variant X37 | XR_007060109.1:n.681G>C | N/A | Non Coding Transcript Variant |
| COA1 transcript variant X38 | XR_007060110.1:n.631G>C | N/A | Non Coding Transcript Variant |
| COA1 transcript variant X39 | XR_007060111.1:n.901G>C | N/A | Non Coding Transcript Variant |
| COA1 transcript variant X40 | XR_007060112.1:n.782G>C | N/A | Non Coding Transcript Variant |
| COA1 transcript variant X41 | XR_007060113.1:n.806G>C | N/A | Non Coding Transcript Variant |
| COA1 transcript variant X42 | XR_007060114.1:n.631G>C | N/A | Non Coding Transcript Variant |
| COA1 transcript variant X43 | XR_007060115.1:n.765G>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 | C= | G |
|---|---|---|
| GRCh38.p14 chr 7 | NC_000007.14:g.43639596= | NC_000007.14:g.43639596C>G |
| GRCh37.p13 chr 7 | NC_000007.13:g.43679195= | NC_000007.13:g.43679195C>G |
| COA1 transcript variant 1 | NM_018224.4:c.427= | NM_018224.4:c.427G>C |
| COA1 transcript variant 1 | NM_018224.3:c.427= | NM_018224.3:c.427G>C |
| COA1 transcript variant 22 | NR_146941.2:n.675= | NR_146941.2:n.675G>C |
| COA1 transcript variant 22 | NR_146941.1:n.693= | NR_146941.1:n.693G>C |
| COA1 transcript variant 15 | NR_135583.2:n.560= | NR_135583.2:n.560G>C |
| COA1 transcript variant 15 | NR_135583.1:n.578= | NR_135583.1:n.578G>C |
| COA1 transcript variant 21 | NR_146940.2:n.411= | NR_146940.2:n.411G>C |
| COA1 transcript variant 21 | NR_146940.1:n.429= | NR_146940.1:n.429G>C |
| COA1 transcript variant 2 | NR_047701.2:n.625= | NR_047701.2:n.625G>C |
| COA1 transcript variant 12 | NR_135580.2:n.661= | NR_135580.2:n.661G>C |
| COA1 transcript variant 12 | NR_135580.1:n.679= | NR_135580.1:n.679G>C |
| COA1 transcript variant 13 | NR_135581.2:n.661= | NR_135581.2:n.661G>C |
| COA1 transcript variant 13 | NR_135581.1:n.679= | NR_135581.1:n.679G>C |
| COA1 transcript variant 25 | NR_146944.2:n.625= | NR_146944.2:n.625G>C |
| COA1 transcript variant 25 | NR_146944.1:n.643= | NR_146944.1:n.643G>C |
| COA1 transcript variant 14 | NR_135582.2:n.560= | NR_135582.2:n.560G>C |
| COA1 transcript variant 14 | NR_135582.1:n.578= | NR_135582.1:n.578G>C |
| COA1 transcript variant 24 | NR_146943.2:n.553= | NR_146943.2:n.553G>C |
| COA1 transcript variant 24 | NR_146943.1:n.571= | NR_146943.1:n.571G>C |
| COA1 transcript variant 23 | NR_146942.2:n.625= | NR_146942.2:n.625G>C |
| COA1 transcript variant 23 | NR_146942.1:n.643= | NR_146942.1:n.643G>C |
| COA1 transcript variant 26 | NR_146945.2:n.560= | NR_146945.2:n.560G>C |
| COA1 transcript variant 26 | NR_146945.1:n.578= | NR_146945.1:n.578G>C |
| COA1 transcript variant 19 | NM_001350927.2:c.427= | NM_001350927.2:c.427G>C |
| COA1 transcript variant 19 | NM_001350927.1:c.427= | NM_001350927.1:c.427G>C |
| COA1 transcript variant 3 | NM_001321197.2:c.427= | NM_001321197.2:c.427G>C |
| COA1 transcript variant 3 | NM_001321197.1:c.427= | NM_001321197.1:c.427G>C |
| COA1 transcript variant 16 | NM_001350924.2:c.427= | NM_001350924.2:c.427G>C |
| COA1 transcript variant 16 | NM_001350924.1:c.427= | NM_001350924.1:c.427G>C |
| COA1 transcript variant 18 | NM_001350926.2:c.427= | NM_001350926.2:c.427G>C |
| COA1 transcript variant 18 | NM_001350926.1:c.427= | NM_001350926.1:c.427G>C |
| COA1 transcript variant 6 | NM_001321200.2:c.427= | NM_001321200.2:c.427G>C |
| COA1 transcript variant 6 | NM_001321200.1:c.427= | NM_001321200.1:c.427G>C |
| COA1 transcript variant 4 | NM_001321198.2:c.427= | NM_001321198.2:c.427G>C |
| COA1 transcript variant 4 | NM_001321198.1:c.427= | NM_001321198.1:c.427G>C |
| COA1 transcript variant 5 | NM_001321199.2:c.427= | NM_001321199.2:c.427G>C |
| COA1 transcript variant 5 | NM_001321199.1:c.427= | NM_001321199.1:c.427G>C |
| COA1 transcript variant 17 | NM_001350925.2:c.427= | NM_001350925.2:c.427G>C |
| COA1 transcript variant 17 | NM_001350925.1:c.427= | NM_001350925.1:c.427G>C |
| COA1 transcript variant 20 | NM_001350928.2:c.409= | NM_001350928.2:c.409G>C |
| COA1 transcript variant 20 | NM_001350928.1:c.409= | NM_001350928.1:c.409G>C |
| COA1 transcript variant 7 | NM_001321201.2:c.391= | NM_001321201.2:c.391G>C |
| COA1 transcript variant 7 | NM_001321201.1:c.391= | NM_001321201.1:c.391G>C |
| COA1 transcript variant X17 | XR_007060089.1:n.1834= | XR_007060089.1:n.1834G>C |
| COA1 transcript variant X20 | XR_007060092.1:n.901= | XR_007060092.1:n.901G>C |
| COA1 transcript variant X18 | XR_007060090.1:n.782= | XR_007060090.1:n.782G>C |
| COA1 transcript variant X15 | XR_007060088.1:n.780= | XR_007060088.1:n.780G>C |
| COA1 transcript variant X27 | XR_007060099.1:n.750= | XR_007060099.1:n.750G>C |
| COA1 transcript variant X23 | XR_007060095.1:n.681= | XR_007060095.1:n.681G>C |
| COA1 transcript variant X14 | XR_007060087.1:n.661= | XR_007060087.1:n.661G>C |
| COA1 transcript variant X19 | XR_007060091.1:n.631= | XR_007060091.1:n.631G>C |
| COA1 transcript variant X22 | XR_007060094.1:n.590= | XR_007060094.1:n.590G>C |
| COA1 transcript variant X29 | XR_007060101.1:n.584= | XR_007060101.1:n.584G>C |
| COA1 transcript variant X1 | XR_007060076.1:n.560= | XR_007060076.1:n.560G>C |
| COA1 transcript variant X24 | XR_007060096.1:n.780= | XR_007060096.1:n.780G>C |
| COA1 transcript variant X25 | XR_007060097.1:n.661= | XR_007060097.1:n.661G>C |
| COA1 transcript variant X34 | XR_007060106.1:n.1834= | XR_007060106.1:n.1834G>C |
| COA1 transcript variant X31 | XR_007060103.1:n.610= | XR_007060103.1:n.610G>C |
| COA1 transcript variant X2 | XR_007060077.1:n.560= | XR_007060077.1:n.560G>C |
| COA1 transcript variant X32 | XR_007060104.1:n.530= | XR_007060104.1:n.530G>C |
| COA1 transcript variant X36 | XR_007060108.1:n.955= | XR_007060108.1:n.955G>C |
| COA1 transcript variant X28 | XR_007060100.1:n.780= | XR_007060100.1:n.780G>C |
| COA1 transcript variant X41 | XR_007060113.1:n.806= | XR_007060113.1:n.806G>C |
| COA1 transcript variant X33 | XR_007060105.1:n.661= | XR_007060105.1:n.661G>C |
| COA1 transcript variant X35 | XR_007060107.1:n.782= | XR_007060107.1:n.782G>C |
| COA1 transcript variant X26 | XR_007060098.1:n.780= | XR_007060098.1:n.780G>C |
| COA1 transcript variant X43 | XR_007060115.1:n.765= | XR_007060115.1:n.765G>C |
| COA1 transcript variant X6 | XR_007060081.1:n.560= | XR_007060081.1:n.560G>C |
| COA1 transcript variant X37 | XR_007060109.1:n.681= | XR_007060109.1:n.681G>C |
| COA1 transcript variant X21 | XR_007060093.1:n.661= | XR_007060093.1:n.661G>C |
| COA1 transcript variant X38 | XR_007060110.1:n.631= | XR_007060110.1:n.631G>C |
| COA1 transcript variant X4 | XR_007060079.1:n.560= | XR_007060079.1:n.560G>C |
| COA1 transcript variant X12 | XR_007060086.1:n.560= | XR_007060086.1:n.560G>C |
| COA1 transcript variant 40 | NR_163916.1:n.625= | NR_163916.1:n.625G>C |
| COA1 transcript variant 41 | NR_163917.1:n.625= | NR_163917.1:n.625G>C |
| COA1 transcript variant 42 | NR_163918.1:n.610= | NR_163918.1:n.610G>C |
| COA1 transcript variant 2 | NR_163914.1:n.625= | NR_163914.1:n.625G>C |
| COA1 transcript variant X5 | XR_007060080.1:n.560= | XR_007060080.1:n.560G>C |
| COA1 transcript variant X3 | XR_007060078.1:n.560= | XR_007060078.1:n.560G>C |
| COA1 transcript variant 2 | NR_047701.1:n.643= | NR_047701.1:n.643G>C |
| COA1 transcript variant X8 | XR_007060083.1:n.560= | XR_007060083.1:n.560G>C |
| COA1 transcript variant X7 | XR_007060082.1:n.560= | XR_007060082.1:n.560G>C |
| COA1 transcript variant X10 | XR_007060085.1:n.560= | XR_007060085.1:n.560G>C |
| COA1 transcript variant X13 | XM_047420604.1:c.427= | XM_047420604.1:c.427G>C |
| COA1 transcript variant X39 | XR_007060111.1:n.901= | XR_007060111.1:n.901G>C |
| COA1 transcript variant X40 | XR_007060112.1:n.782= | XR_007060112.1:n.782G>C |
| COA1 transcript variant X30 | XR_007060102.1:n.780= | XR_007060102.1:n.780G>C |
| COA1 transcript variant X42 | XR_007060114.1:n.631= | XR_007060114.1:n.631G>C |
| COA1 transcript variant X9 | XR_007060084.1:n.560= | XR_007060084.1:n.560G>C |
| COA1 transcript variant 27 | NM_001371307.1:c.427= | NM_001371307.1:c.427G>C |
| COA1 transcript variant X16 | XM_047420605.1:c.427= | XM_047420605.1:c.427G>C |
| COA1 transcript variant 32 | NM_001371312.1:c.427= | NM_001371312.1:c.427G>C |
| COA1 transcript variant 33 | NM_001371313.1:c.427= | NM_001371313.1:c.427G>C |
| COA1 transcript variant X11 | XM_047420603.1:c.427= | XM_047420603.1:c.427G>C |
| COA1 transcript variant 31 | NM_001371311.1:c.427= | NM_001371311.1:c.427G>C |
| COA1 transcript variant 35 | NM_001371315.1:c.427= | NM_001371315.1:c.427G>C |
| COA1 transcript variant 28 | NM_001371308.1:c.427= | NM_001371308.1:c.427G>C |
| COA1 transcript variant 36 | NM_001371316.1:c.427= | NM_001371316.1:c.427G>C |
| COA1 transcript variant 30 | NM_001371310.1:c.427= | NM_001371310.1:c.427G>C |
| COA1 transcript variant 34 | NM_001371314.1:c.427= | NM_001371314.1:c.427G>C |
| COA1 transcript variant 43 | NR_163919.1:n.666= | NR_163919.1:n.666G>C |
| COA1 transcript variant 37 | NM_001371317.1:c.409= | NM_001371317.1:c.409G>C |
| COA1 transcript variant 38 | NM_001371318.1:c.415= | NM_001371318.1:c.415G>C |
| COA1 transcript variant 29 | NM_001371309.1:c.427= | NM_001371309.1:c.427G>C |
| COA1 transcript variant 39 | NR_163915.1:n.565= | NR_163915.1:n.565G>C |
| cytochrome c oxidase assembly factor 1 homolog isoform a | NP_060694.2:p.Val143= | NP_060694.2:p.Val143Leu |
| cytochrome c oxidase assembly factor 1 homolog isoform a | NP_001337856.1:p.Val143= | NP_001337856.1:p.Val143Leu |
| cytochrome c oxidase assembly factor 1 homolog isoform a | NP_001308126.1:p.Val143= | NP_001308126.1:p.Val143Leu |
| cytochrome c oxidase assembly factor 1 homolog isoform a | NP_001337853.1:p.Val143= | NP_001337853.1:p.Val143Leu |
| cytochrome c oxidase assembly factor 1 homolog isoform a | NP_001337855.1:p.Val143= | NP_001337855.1:p.Val143Leu |
| cytochrome c oxidase assembly factor 1 homolog isoform a | NP_001308129.1:p.Val143= | NP_001308129.1:p.Val143Leu |
| cytochrome c oxidase assembly factor 1 homolog isoform a | NP_001308127.1:p.Val143= | NP_001308127.1:p.Val143Leu |
| cytochrome c oxidase assembly factor 1 homolog isoform a | NP_001308128.1:p.Val143= | NP_001308128.1:p.Val143Leu |
| cytochrome c oxidase assembly factor 1 homolog isoform a | NP_001337854.1:p.Val143= | NP_001337854.1:p.Val143Leu |
| cytochrome c oxidase assembly factor 1 homolog isoform d | NP_001337857.1:p.Val137= | NP_001337857.1:p.Val137Leu |
| cytochrome c oxidase assembly factor 1 homolog isoform b | NP_001308130.1:p.Val131= | NP_001308130.1:p.Val131Leu |
| cytochrome c oxidase assembly factor 1 homolog isoform X1 | XP_047276560.1:p.Val143= | XP_047276560.1:p.Val143Leu |
| cytochrome c oxidase assembly factor 1 homolog isoform a | NP_001358236.1:p.Val143= | NP_001358236.1:p.Val143Leu |
| cytochrome c oxidase assembly factor 1 homolog isoform X1 | XP_047276561.1:p.Val143= | XP_047276561.1:p.Val143Leu |
| cytochrome c oxidase assembly factor 1 homolog isoform a | NP_001358241.1:p.Val143= | NP_001358241.1:p.Val143Leu |
| cytochrome c oxidase assembly factor 1 homolog isoform a | NP_001358242.1:p.Val143= | NP_001358242.1:p.Val143Leu |
| cytochrome c oxidase assembly factor 1 homolog isoform X1 | XP_047276559.1:p.Val143= | XP_047276559.1:p.Val143Leu |
| cytochrome c oxidase assembly factor 1 homolog isoform a | NP_001358240.1:p.Val143= | NP_001358240.1:p.Val143Leu |
| cytochrome c oxidase assembly factor 1 homolog isoform a | NP_001358244.1:p.Val143= | NP_001358244.1:p.Val143Leu |
| cytochrome c oxidase assembly factor 1 homolog isoform a | NP_001358237.1:p.Val143= | NP_001358237.1:p.Val143Leu |
| cytochrome c oxidase assembly factor 1 homolog isoform a | NP_001358245.1:p.Val143= | NP_001358245.1:p.Val143Leu |
| cytochrome c oxidase assembly factor 1 homolog isoform a | NP_001358239.1:p.Val143= | NP_001358239.1:p.Val143Leu |
| cytochrome c oxidase assembly factor 1 homolog isoform a | NP_001358243.1:p.Val143= | NP_001358243.1:p.Val143Leu |
| cytochrome c oxidase assembly factor 1 homolog isoform d | NP_001358246.1:p.Val137= | NP_001358246.1:p.Val137Leu |
| cytochrome c oxidase assembly factor 1 homolog isoform e | NP_001358247.1:p.Val139= | NP_001358247.1:p.Val139Leu |
| cytochrome c oxidase assembly factor 1 homolog isoform a | NP_001358238.1:p.Val143= | NP_001358238.1:p.Val143Leu |
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 | ss3986380231 | Apr 27, 2021 (155) |
| 2 | TOPMED | ss4743761951 | Apr 27, 2021 (155) |
| 3 | TopMed | NC_000007.14 - 43639596 | Apr 27, 2021 (155) |
| 4 | ALFA | NC_000007.14 - 43639596 | 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 rs1379239098
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.