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.
rs1477499469
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr2:25432937 (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>A
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
None
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
-
DTNB : Missense VariantLOC124900608 : 2KB Upstream Variant
- Publications
- 0 citations
- Genomic View
- See rs on genome
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").
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.
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr 2 | NC_000002.12:g.25432937G>A |
| GRCh37.p13 chr 2 | NC_000002.11:g.25655806G>A |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| DTNB transcript variant 14 | NM_001320937.2:c. | N/A | Genic Downstream Transcript Variant |
| DTNB transcript variant 8 | NM_001256308.2:c.1235C>T | P [CCT] > L [CTT] | Coding Sequence Variant |
| dystrobrevin beta isoform 8 | NP_001243237.1:p.Pro412Leu | P (Pro) > L (Leu) | Missense Variant |
| DTNB transcript variant 23 | NM_001351389.2:c.1316C>T | P [CCT] > L [CTT] | Coding Sequence Variant |
| dystrobrevin beta isoform 23 | NP_001338318.1:p.Pro439Leu | P (Pro) > L (Leu) | Missense Variant |
| DTNB transcript variant 25 | NM_001351391.2:c.1316C>T | P [CCT] > L [CTT] | Coding Sequence Variant |
| dystrobrevin beta isoform 25 | NP_001338320.1:p.Pro439Leu | P (Pro) > L (Leu) | Missense Variant |
| DTNB transcript variant 2 | NM_033147.4:c.1406C>T | P [CCT] > L [CTT] | Coding Sequence Variant |
| dystrobrevin beta isoform 2 | NP_149159.2:p.Pro469Leu | P (Pro) > L (Leu) | Missense Variant |
| DTNB transcript variant 4 | NM_183360.3:c.1406C>T | P [CCT] > L [CTT] | Coding Sequence Variant |
| dystrobrevin beta isoform 4 | NP_899204.1:p.Pro469Leu | P (Pro) > L (Leu) | Missense Variant |
| DTNB transcript variant 11 | NM_001320934.2:c.1316C>T | P [CCT] > L [CTT] | Coding Sequence Variant |
| dystrobrevin beta isoform 11 | NP_001307863.1:p.Pro439Leu | P (Pro) > L (Leu) | Missense Variant |
| DTNB transcript variant 13 | NM_001320936.2:c.1406C>T | P [CCT] > L [CTT] | Coding Sequence Variant |
| dystrobrevin beta isoform 13 | NP_001307865.1:p.Pro469Leu | P (Pro) > L (Leu) | Missense Variant |
| DTNB transcript variant 9 | NM_001320932.2:c.794C>T | P [CCT] > L [CTT] | Coding Sequence Variant |
| dystrobrevin beta isoform 9 | NP_001307861.1:p.Pro265Leu | P (Pro) > L (Leu) | Missense Variant |
| DTNB transcript variant 24 | NM_001351390.2:c.1316C>T | P [CCT] > L [CTT] | Coding Sequence Variant |
| dystrobrevin beta isoform 24 | NP_001338319.1:p.Pro439Leu | P (Pro) > L (Leu) | Missense Variant |
| DTNB transcript variant 29 | NM_001351395.2:c.491C>T | P [CCT] > L [CTT] | Coding Sequence Variant |
| dystrobrevin beta isoform 29 | NP_001338324.1:p.Pro164Leu | P (Pro) > L (Leu) | Missense Variant |
| DTNB transcript variant 15 | NM_001351381.2:c.875C>T | P [CCT] > L [CTT] | Coding Sequence Variant |
| dystrobrevin beta isoform 15 | NP_001338310.1:p.Pro292Leu | P (Pro) > L (Leu) | Missense Variant |
| DTNB transcript variant 7 | NM_001256304.3:c.1406C>T | P [CCT] > L [CTT] | Coding Sequence Variant |
| dystrobrevin beta isoform 7 | NP_001243233.1:p.Pro469Leu | P (Pro) > L (Leu) | Missense Variant |
| DTNB transcript variant 28 | NM_001351394.2:c.1406C>T | P [CCT] > L [CTT] | Coding Sequence Variant |
| dystrobrevin beta isoform 28 | NP_001338323.1:p.Pro469Leu | P (Pro) > L (Leu) | Missense Variant |
| DTNB transcript variant 12 | NM_001320935.2:c.794C>T | P [CCT] > L [CTT] | Coding Sequence Variant |
| dystrobrevin beta isoform 12 | NP_001307864.1:p.Pro265Leu | P (Pro) > L (Leu) | Missense Variant |
| DTNB transcript variant 10 | NM_001320933.2:c.1316C>T | P [CCT] > L [CTT] | Coding Sequence Variant |
| dystrobrevin beta isoform 10 | NP_001307862.1:p.Pro439Leu | P (Pro) > L (Leu) | Missense Variant |
| DTNB transcript variant 20 | NM_001351386.2:c.1316C>T | P [CCT] > L [CTT] | Coding Sequence Variant |
| dystrobrevin beta isoform 20 | NP_001338315.1:p.Pro439Leu | P (Pro) > L (Leu) | Missense Variant |
| DTNB transcript variant 22 | NM_001351388.2:c.1406C>T | P [CCT] > L [CTT] | Coding Sequence Variant |
| dystrobrevin beta isoform 22 | NP_001338317.1:p.Pro469Leu | P (Pro) > L (Leu) | Missense Variant |
| DTNB transcript variant 3 | NM_033148.4:c.1316C>T | P [CCT] > L [CTT] | Coding Sequence Variant |
| dystrobrevin beta isoform 3 | NP_149160.1:p.Pro439Leu | P (Pro) > L (Leu) | Missense Variant |
| DTNB transcript variant 18 | NM_001351384.2:c.1406C>T | P [CCT] > L [CTT] | Coding Sequence Variant |
| dystrobrevin beta isoform 18 | NP_001338313.1:p.Pro469Leu | P (Pro) > L (Leu) | Missense Variant |
| DTNB transcript variant 21 | NM_001351387.2:c.1316C>T | P [CCT] > L [CTT] | Coding Sequence Variant |
| dystrobrevin beta isoform 21 | NP_001338316.1:p.Pro439Leu | P (Pro) > L (Leu) | Missense Variant |
| DTNB transcript variant 1 | NM_021907.5:c.1406C>T | P [CCT] > L [CTT] | Coding Sequence Variant |
| dystrobrevin beta isoform 1 | NP_068707.1:p.Pro469Leu | P (Pro) > L (Leu) | Missense Variant |
| DTNB transcript variant 5 | NM_183361.3:c.1316C>T | P [CCT] > L [CTT] | Coding Sequence Variant |
| dystrobrevin beta isoform 5 | NP_899205.1:p.Pro439Leu | P (Pro) > L (Leu) | Missense Variant |
| DTNB transcript variant 19 | NM_001351385.2:c.1316C>T | P [CCT] > L [CTT] | Coding Sequence Variant |
| dystrobrevin beta isoform 19 | NP_001338314.1:p.Pro439Leu | P (Pro) > L (Leu) | Missense Variant |
| DTNB transcript variant 6 | NM_001256303.2:c.1406C>T | P [CCT] > L [CTT] | Coding Sequence Variant |
| dystrobrevin beta isoform 6 | NP_001243232.1:p.Pro469Leu | P (Pro) > L (Leu) | Missense Variant |
| DTNB transcript variant 16 | NM_001351382.2:c.1316C>T | P [CCT] > L [CTT] | Coding Sequence Variant |
| dystrobrevin beta isoform 16 | NP_001338311.1:p.Pro439Leu | P (Pro) > L (Leu) | Missense Variant |
| DTNB transcript variant 26 | NM_001351392.2:c.875C>T | P [CCT] > L [CTT] | Coding Sequence Variant |
| dystrobrevin beta isoform 26 | NP_001338321.1:p.Pro292Leu | P (Pro) > L (Leu) | Missense Variant |
| DTNB transcript variant 27 | NM_001351393.2:c.875C>T | P [CCT] > L [CTT] | Coding Sequence Variant |
| dystrobrevin beta isoform 27 | NP_001338322.1:p.Pro292Leu | P (Pro) > L (Leu) | Missense Variant |
| DTNB transcript variant 17 | NM_001351383.2:c.1316C>T | P [CCT] > L [CTT] | Coding Sequence Variant |
| dystrobrevin beta isoform 17 | NP_001338312.1:p.Pro439Leu | P (Pro) > L (Leu) | Missense Variant |
| DTNB transcript variant 31 | NM_001394686.1:c.965C>T | P [CCT] > L [CTT] | Coding Sequence Variant |
| dystrobrevin beta isoform 30 | NP_001381615.1:p.Pro322Leu | P (Pro) > L (Leu) | Missense Variant |
| DTNB transcript variant 30 | NR_147180.2:n.1509C>T | N/A | Non Coding Transcript Variant |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| LOC124900608 transcript variant X1 | XR_007086247.1:n. | N/A | Upstream Transcript Variant |
| LOC124900608 transcript variant X2 | XR_007086248.1:n. | N/A | N/A |
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.
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= | A |
|---|---|---|
| GRCh38.p14 chr 2 | NC_000002.12:g.25432937= | NC_000002.12:g.25432937G>A |
| GRCh37.p13 chr 2 | NC_000002.11:g.25655806= | NC_000002.11:g.25655806G>A |
| DTNB transcript variant 1 | NM_021907.5:c.1406= | NM_021907.5:c.1406C>T |
| DTNB transcript variant 1 | NM_021907.4:c.1406= | NM_021907.4:c.1406C>T |
| DTNB transcript variant 2 | NM_033147.4:c.1406= | NM_033147.4:c.1406C>T |
| DTNB transcript variant 2 | NM_033147.3:c.1406= | NM_033147.3:c.1406C>T |
| DTNB transcript variant 3 | NM_033148.4:c.1316= | NM_033148.4:c.1316C>T |
| DTNB transcript variant 3 | NM_033148.3:c.1316= | NM_033148.3:c.1316C>T |
| DTNB transcript variant 4 | NM_183360.3:c.1406= | NM_183360.3:c.1406C>T |
| DTNB transcript variant 4 | NM_183360.2:c.1406= | NM_183360.2:c.1406C>T |
| DTNB transcript variant 7 | NM_001256304.3:c.1406= | NM_001256304.3:c.1406C>T |
| DTNB transcript variant 7 | NM_001256304.2:c.1406= | NM_001256304.2:c.1406C>T |
| DTNB transcript variant 7 | NM_001256304.1:c.1406= | NM_001256304.1:c.1406C>T |
| DTNB transcript variant 5 | NM_183361.3:c.1316= | NM_183361.3:c.1316C>T |
| DTNB transcript variant 5 | NM_183361.2:c.1316= | NM_183361.2:c.1316C>T |
| DTNB transcript variant 29 | NM_001351395.2:c.491= | NM_001351395.2:c.491C>T |
| DTNB transcript variant 29 | NM_001351395.1:c.491= | NM_001351395.1:c.491C>T |
| DTNB transcript variant 23 | NM_001351389.2:c.1316= | NM_001351389.2:c.1316C>T |
| DTNB transcript variant 23 | NM_001351389.1:c.1316= | NM_001351389.1:c.1316C>T |
| DTNB transcript variant 13 | NM_001320936.2:c.1406= | NM_001320936.2:c.1406C>T |
| DTNB transcript variant 13 | NM_001320936.1:c.1406= | NM_001320936.1:c.1406C>T |
| DTNB transcript variant 30 | NR_147180.2:n.1509= | NR_147180.2:n.1509C>T |
| DTNB transcript variant 30 | NR_147180.1:n.1579= | NR_147180.1:n.1579C>T |
| DTNB transcript variant 6 | NM_001256303.2:c.1406= | NM_001256303.2:c.1406C>T |
| DTNB transcript variant 6 | NM_001256303.1:c.1406= | NM_001256303.1:c.1406C>T |
| DTNB transcript variant 11 | NM_001320934.2:c.1316= | NM_001320934.2:c.1316C>T |
| DTNB transcript variant 11 | NM_001320934.1:c.1316= | NM_001320934.1:c.1316C>T |
| DTNB transcript variant 10 | NM_001320933.2:c.1316= | NM_001320933.2:c.1316C>T |
| DTNB transcript variant 10 | NM_001320933.1:c.1316= | NM_001320933.1:c.1316C>T |
| DTNB transcript variant 21 | NM_001351387.2:c.1316= | NM_001351387.2:c.1316C>T |
| DTNB transcript variant 21 | NM_001351387.1:c.1316= | NM_001351387.1:c.1316C>T |
| DTNB transcript variant 8 | NM_001256308.2:c.1235= | NM_001256308.2:c.1235C>T |
| DTNB transcript variant 8 | NM_001256308.1:c.1235= | NM_001256308.1:c.1235C>T |
| DTNB transcript variant 22 | NM_001351388.2:c.1406= | NM_001351388.2:c.1406C>T |
| DTNB transcript variant 22 | NM_001351388.1:c.1406= | NM_001351388.1:c.1406C>T |
| DTNB transcript variant 16 | NM_001351382.2:c.1316= | NM_001351382.2:c.1316C>T |
| DTNB transcript variant 16 | NM_001351382.1:c.1316= | NM_001351382.1:c.1316C>T |
| DTNB transcript variant 19 | NM_001351385.2:c.1316= | NM_001351385.2:c.1316C>T |
| DTNB transcript variant 19 | NM_001351385.1:c.1316= | NM_001351385.1:c.1316C>T |
| DTNB transcript variant 17 | NM_001351383.2:c.1316= | NM_001351383.2:c.1316C>T |
| DTNB transcript variant 17 | NM_001351383.1:c.1316= | NM_001351383.1:c.1316C>T |
| DTNB transcript variant 20 | NM_001351386.2:c.1316= | NM_001351386.2:c.1316C>T |
| DTNB transcript variant 20 | NM_001351386.1:c.1316= | NM_001351386.1:c.1316C>T |
| DTNB transcript variant 18 | NM_001351384.2:c.1406= | NM_001351384.2:c.1406C>T |
| DTNB transcript variant 18 | NM_001351384.1:c.1406= | NM_001351384.1:c.1406C>T |
| DTNB transcript variant 15 | NM_001351381.2:c.875= | NM_001351381.2:c.875C>T |
| DTNB transcript variant 15 | NM_001351381.1:c.875= | NM_001351381.1:c.875C>T |
| DTNB transcript variant 26 | NM_001351392.2:c.875= | NM_001351392.2:c.875C>T |
| DTNB transcript variant 26 | NM_001351392.1:c.875= | NM_001351392.1:c.875C>T |
| DTNB transcript variant 9 | NM_001320932.2:c.794= | NM_001320932.2:c.794C>T |
| DTNB transcript variant 9 | NM_001320932.1:c.794= | NM_001320932.1:c.794C>T |
| DTNB transcript variant 24 | NM_001351390.2:c.1316= | NM_001351390.2:c.1316C>T |
| DTNB transcript variant 24 | NM_001351390.1:c.1316= | NM_001351390.1:c.1316C>T |
| DTNB transcript variant 12 | NM_001320935.2:c.794= | NM_001320935.2:c.794C>T |
| DTNB transcript variant 12 | NM_001320935.1:c.794= | NM_001320935.1:c.794C>T |
| DTNB transcript variant 27 | NM_001351393.2:c.875= | NM_001351393.2:c.875C>T |
| DTNB transcript variant 27 | NM_001351393.1:c.875= | NM_001351393.1:c.875C>T |
| DTNB transcript variant 25 | NM_001351391.2:c.1316= | NM_001351391.2:c.1316C>T |
| DTNB transcript variant 25 | NM_001351391.1:c.1316= | NM_001351391.1:c.1316C>T |
| DTNB transcript variant 28 | NM_001351394.2:c.1406= | NM_001351394.2:c.1406C>T |
| DTNB transcript variant 28 | NM_001351394.1:c.1406= | NM_001351394.1:c.1406C>T |
| DTNB transcript variant 31 | NM_001394686.1:c.965= | NM_001394686.1:c.965C>T |
| dystrobrevin beta isoform 1 | NP_068707.1:p.Pro469= | NP_068707.1:p.Pro469Leu |
| dystrobrevin beta isoform 2 | NP_149159.2:p.Pro469= | NP_149159.2:p.Pro469Leu |
| dystrobrevin beta isoform 3 | NP_149160.1:p.Pro439= | NP_149160.1:p.Pro439Leu |
| dystrobrevin beta isoform 4 | NP_899204.1:p.Pro469= | NP_899204.1:p.Pro469Leu |
| dystrobrevin beta isoform 7 | NP_001243233.1:p.Pro469= | NP_001243233.1:p.Pro469Leu |
| dystrobrevin beta isoform 5 | NP_899205.1:p.Pro439= | NP_899205.1:p.Pro439Leu |
| dystrobrevin beta isoform 29 | NP_001338324.1:p.Pro164= | NP_001338324.1:p.Pro164Leu |
| dystrobrevin beta isoform 23 | NP_001338318.1:p.Pro439= | NP_001338318.1:p.Pro439Leu |
| dystrobrevin beta isoform 13 | NP_001307865.1:p.Pro469= | NP_001307865.1:p.Pro469Leu |
| dystrobrevin beta isoform 6 | NP_001243232.1:p.Pro469= | NP_001243232.1:p.Pro469Leu |
| dystrobrevin beta isoform 11 | NP_001307863.1:p.Pro439= | NP_001307863.1:p.Pro439Leu |
| dystrobrevin beta isoform 10 | NP_001307862.1:p.Pro439= | NP_001307862.1:p.Pro439Leu |
| dystrobrevin beta isoform 21 | NP_001338316.1:p.Pro439= | NP_001338316.1:p.Pro439Leu |
| dystrobrevin beta isoform 8 | NP_001243237.1:p.Pro412= | NP_001243237.1:p.Pro412Leu |
| dystrobrevin beta isoform 22 | NP_001338317.1:p.Pro469= | NP_001338317.1:p.Pro469Leu |
| dystrobrevin beta isoform 16 | NP_001338311.1:p.Pro439= | NP_001338311.1:p.Pro439Leu |
| dystrobrevin beta isoform 19 | NP_001338314.1:p.Pro439= | NP_001338314.1:p.Pro439Leu |
| dystrobrevin beta isoform 17 | NP_001338312.1:p.Pro439= | NP_001338312.1:p.Pro439Leu |
| dystrobrevin beta isoform 20 | NP_001338315.1:p.Pro439= | NP_001338315.1:p.Pro439Leu |
| dystrobrevin beta isoform 18 | NP_001338313.1:p.Pro469= | NP_001338313.1:p.Pro469Leu |
| dystrobrevin beta isoform 15 | NP_001338310.1:p.Pro292= | NP_001338310.1:p.Pro292Leu |
| dystrobrevin beta isoform 26 | NP_001338321.1:p.Pro292= | NP_001338321.1:p.Pro292Leu |
| dystrobrevin beta isoform 9 | NP_001307861.1:p.Pro265= | NP_001307861.1:p.Pro265Leu |
| dystrobrevin beta isoform 24 | NP_001338319.1:p.Pro439= | NP_001338319.1:p.Pro439Leu |
| dystrobrevin beta isoform 12 | NP_001307864.1:p.Pro265= | NP_001307864.1:p.Pro265Leu |
| dystrobrevin beta isoform 27 | NP_001338322.1:p.Pro292= | NP_001338322.1:p.Pro292Leu |
| dystrobrevin beta isoform 25 | NP_001338320.1:p.Pro439= | NP_001338320.1:p.Pro439Leu |
| dystrobrevin beta isoform 28 | NP_001338323.1:p.Pro469= | NP_001338323.1:p.Pro469Leu |
| dystrobrevin beta isoform 30 | NP_001381615.1:p.Pro322= | NP_001381615.1:p.Pro322Leu |
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#.
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | GNOMAD | ss2732519314 | Nov 08, 2017 (151) |
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).
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
No publications for rs1477499469
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
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.