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.
rs1397795516
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr15:24918835-24918844 (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
-
delATAT / delAT / dupAT / dupATAT …
delATAT / delAT / dupAT / dupATAT / dup(AT)4
- Variation Type
- Indel Insertion and Deletion
- Frequency
-
delAT=0.000063 (7/110936, GnomAD)delATAT=0.00000 (0/11772, ALFA)delAT=0.00000 (0/11772, ALFA) (+ 3 more)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
-
SNRPN : Intron VariantSNHG14 : Intron 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.
Population | Group | Sample Size | Ref Allele | Alt Allele | Ref HMOZ | Alt HMOZ | HTRZ | HWEP |
---|---|---|---|---|---|---|---|---|
Total | Global | 11772 | ATATATATAT=1.00000 | ATATAT=0.00000, ATATATAT=0.00000, ATATATATATAT=0.00000, ATATATATATATAT=0.00000, ATATATATATATATATAT=0.00000 | 1.0 | 0.0 | 0.0 | N/A |
European | Sub | 7616 | ATATATATAT=1.0000 | ATATAT=0.0000, ATATATAT=0.0000, ATATATATATAT=0.0000, ATATATATATATAT=0.0000, ATATATATATATATATAT=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
African | Sub | 2742 | ATATATATAT=1.0000 | ATATAT=0.0000, ATATATAT=0.0000, ATATATATATAT=0.0000, ATATATATATATAT=0.0000, ATATATATATATATATAT=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
African Others | Sub | 104 | ATATATATAT=1.000 | ATATAT=0.000, ATATATAT=0.000, ATATATATATAT=0.000, ATATATATATATAT=0.000, ATATATATATATATATAT=0.000 | 1.0 | 0.0 | 0.0 | N/A |
African American | Sub | 2638 | ATATATATAT=1.0000 | ATATAT=0.0000, ATATATAT=0.0000, ATATATATATAT=0.0000, ATATATATATATAT=0.0000, ATATATATATATATATAT=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
Asian | Sub | 106 | ATATATATAT=1.000 | ATATAT=0.000, ATATATAT=0.000, ATATATATATAT=0.000, ATATATATATATAT=0.000, ATATATATATATATATAT=0.000 | 1.0 | 0.0 | 0.0 | N/A |
East Asian | Sub | 82 | ATATATATAT=1.00 | ATATAT=0.00, ATATATAT=0.00, ATATATATATAT=0.00, ATATATATATATAT=0.00, ATATATATATATATATAT=0.00 | 1.0 | 0.0 | 0.0 | N/A |
Other Asian | Sub | 24 | ATATATATAT=1.00 | ATATAT=0.00, ATATATAT=0.00, ATATATATATAT=0.00, ATATATATATATAT=0.00, ATATATATATATATATAT=0.00 | 1.0 | 0.0 | 0.0 | N/A |
Latin American 1 | Sub | 146 | ATATATATAT=1.000 | ATATAT=0.000, ATATATAT=0.000, ATATATATATAT=0.000, ATATATATATATAT=0.000, ATATATATATATATATAT=0.000 | 1.0 | 0.0 | 0.0 | N/A |
Latin American 2 | Sub | 604 | ATATATATAT=1.000 | ATATAT=0.000, ATATATAT=0.000, ATATATATATAT=0.000, ATATATATATATAT=0.000, ATATATATATATATATAT=0.000 | 1.0 | 0.0 | 0.0 | N/A |
South Asian | Sub | 94 | ATATATATAT=1.00 | ATATAT=0.00, ATATATAT=0.00, ATATATATATAT=0.00, ATATATATATATAT=0.00, ATATATATATATATATAT=0.00 | 1.0 | 0.0 | 0.0 | N/A |
Other | Sub | 464 | ATATATATAT=1.000 | ATATAT=0.000, ATATATAT=0.000, ATATATATATAT=0.000, ATATATATATATAT=0.000, ATATATATATATATATAT=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").
DownloadStudy | Population | Group | Sample Size | Ref Allele | Alt Allele |
---|---|---|---|---|---|
gnomAD - Genomes | Global | Study-wide | 110936 | (AT)5=0.999937 | delAT=0.000063 |
gnomAD - Genomes | European | Sub | 63462 | (AT)5=0.99989 | delAT=0.00011 |
gnomAD - Genomes | African | Sub | 29914 | (AT)5=1.00000 | delAT=0.00000 |
gnomAD - Genomes | American | Sub | 9912 | (AT)5=1.0000 | delAT=0.0000 |
gnomAD - Genomes | Ashkenazi Jewish | Sub | 3124 | (AT)5=1.0000 | delAT=0.0000 |
gnomAD - Genomes | East Asian | Sub | 2854 | (AT)5=1.0000 | delAT=0.0000 |
gnomAD - Genomes | Other | Sub | 1670 | (AT)5=1.0000 | delAT=0.0000 |
Allele Frequency Aggregator | Total | Global | 11772 | (AT)5=1.00000 | delATAT=0.00000, delAT=0.00000, dupAT=0.00000, dupATAT=0.00000, dup(AT)4=0.00000 |
Allele Frequency Aggregator | European | Sub | 7616 | (AT)5=1.0000 | delATAT=0.0000, delAT=0.0000, dupAT=0.0000, dupATAT=0.0000, dup(AT)4=0.0000 |
Allele Frequency Aggregator | African | Sub | 2742 | (AT)5=1.0000 | delATAT=0.0000, delAT=0.0000, dupAT=0.0000, dupATAT=0.0000, dup(AT)4=0.0000 |
Allele Frequency Aggregator | Latin American 2 | Sub | 604 | (AT)5=1.000 | delATAT=0.000, delAT=0.000, dupAT=0.000, dupATAT=0.000, dup(AT)4=0.000 |
Allele Frequency Aggregator | Other | Sub | 464 | (AT)5=1.000 | delATAT=0.000, delAT=0.000, dupAT=0.000, dupATAT=0.000, dup(AT)4=0.000 |
Allele Frequency Aggregator | Latin American 1 | Sub | 146 | (AT)5=1.000 | delATAT=0.000, delAT=0.000, dupAT=0.000, dupATAT=0.000, dup(AT)4=0.000 |
Allele Frequency Aggregator | Asian | Sub | 106 | (AT)5=1.000 | delATAT=0.000, delAT=0.000, dupAT=0.000, dupATAT=0.000, dup(AT)4=0.000 |
Allele Frequency Aggregator | South Asian | Sub | 94 | (AT)5=1.00 | delATAT=0.00, delAT=0.00, dupAT=0.00, dupATAT=0.00, dup(AT)4=0.00 |
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 15 | NC_000015.10:g.24918835AT[3] |
GRCh38.p14 chr 15 | NC_000015.10:g.24918835AT[4] |
GRCh38.p14 chr 15 | NC_000015.10:g.24918835AT[6] |
GRCh38.p14 chr 15 | NC_000015.10:g.24918835AT[7] |
GRCh38.p14 chr 15 | NC_000015.10:g.24918835AT[9] |
GRCh37.p13 chr 15 | NC_000015.9:g.25163982AT[3] |
GRCh37.p13 chr 15 | NC_000015.9:g.25163982AT[4] |
GRCh37.p13 chr 15 | NC_000015.9:g.25163982AT[6] |
GRCh37.p13 chr 15 | NC_000015.9:g.25163982AT[7] |
GRCh37.p13 chr 15 | NC_000015.9:g.25163982AT[9] |
PWSAS genomic region | NG_002690.1:g.137926AT[3] |
PWSAS genomic region | NG_002690.1:g.137926AT[4] |
PWSAS genomic region | NG_002690.1:g.137926AT[6] |
PWSAS genomic region | NG_002690.1:g.137926AT[7] |
PWSAS genomic region | NG_002690.1:g.137926AT[9] |
SNRPN-SNURF RefSeqGene | NG_012958.1:g.100189AT[3] |
SNRPN-SNURF RefSeqGene | NG_012958.1:g.100189AT[4] |
SNRPN-SNURF RefSeqGene | NG_012958.1:g.100189AT[6] |
SNRPN-SNURF RefSeqGene | NG_012958.1:g.100189AT[7] |
SNRPN-SNURF RefSeqGene | NG_012958.1:g.100189AT[9] |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
SNRPN transcript variant 6 |
NM_001349454.2:c.-559-117… NM_001349454.2:c.-559-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 7 |
NM_001349455.2:c.-504-117… NM_001349455.2:c.-504-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 8 |
NM_001349456.2:c.-579-117… NM_001349456.2:c.-579-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 9 |
NM_001349457.2:c.-504-117… NM_001349457.2:c.-504-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 10 |
NM_001349458.2:c.-504-117… NM_001349458.2:c.-504-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 11 |
NM_001349459.2:c.-504-117… NM_001349459.2:c.-504-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 12 |
NM_001349460.2:c.-579-117… NM_001349460.2:c.-579-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 13 |
NM_001349461.2:c.-579-117… NM_001349461.2:c.-579-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 14 |
NM_001349462.2:c.-504-117… NM_001349462.2:c.-504-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 19 |
NM_001378251.1:c.-737-117… NM_001378251.1:c.-737-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 26 |
NM_001400634.1:c.-353-117… NM_001400634.1:c.-353-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 27 |
NM_001400635.1:c.-678-117… NM_001400635.1:c.-678-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 28 |
NM_001400636.1:c.-487-317… NM_001400636.1:c.-487-31759AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 29 |
NM_001400637.1:c.-504-117… NM_001400637.1:c.-504-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 30 |
NM_001400638.1:c.-504-117… NM_001400638.1:c.-504-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 31 |
NM_001400639.1:c.-620-117… NM_001400639.1:c.-620-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 32 |
NM_001400640.1:c.-794-117… NM_001400640.1:c.-794-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 33 |
NM_001400641.1:c.-620-117… NM_001400641.1:c.-620-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 34 |
NM_001400643.1:c.-620-117… NM_001400643.1:c.-620-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 35 |
NM_001400644.1:c.-710-117… NM_001400644.1:c.-710-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 36 |
NM_001400646.1:c.-751-117… NM_001400646.1:c.-751-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 37 |
NM_001400647.1:c.-620-117… NM_001400647.1:c.-620-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 38 |
NM_001400649.1:c.-635-117… NM_001400649.1:c.-635-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 39 |
NM_001400650.1:c.-390-432… NM_001400650.1:c.-390-43279AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 40 |
NM_001400652.1:c.-791-117… NM_001400652.1:c.-791-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 41 |
NM_001400683.1:c.-695-117… NM_001400683.1:c.-695-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 42 |
NM_001400684.1:c.-692-117… NM_001400684.1:c.-692-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 43 |
NM_001400685.1:c.-504-117… NM_001400685.1:c.-504-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 44 |
NM_001400686.1:c.-823-117… NM_001400686.1:c.-823-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 45 |
NM_001400687.1:c.-504-117… NM_001400687.1:c.-504-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 46 |
NM_001400688.1:c.-504-117… NM_001400688.1:c.-504-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 47 |
NM_001400689.1:c.-579-117… NM_001400689.1:c.-579-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 48 |
NM_001400690.1:c.-692-117… NM_001400690.1:c.-692-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 49 |
NM_001400691.1:c.-504-117… NM_001400691.1:c.-504-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 50 |
NM_001400692.1:c.-692-117… NM_001400692.1:c.-692-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 51 |
NM_001400693.1:c.-635-117… NM_001400693.1:c.-635-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 52 |
NM_001400694.1:c.-635-117… NM_001400694.1:c.-635-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 53 |
NM_001400695.1:c.-678-117… NM_001400695.1:c.-678-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 54 |
NM_001400696.1:c.-628-117… NM_001400696.1:c.-628-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 55 |
NM_001400697.1:c.-318+322… NM_001400697.1:c.-318+32246AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 56 |
NM_001400698.1:c.-469-117… NM_001400698.1:c.-469-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 57 |
NM_001400701.1:c.-751-117… NM_001400701.1:c.-751-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 58 |
NM_001400702.1:c.-695-117… NM_001400702.1:c.-695-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 59 |
NM_001400703.1:c.-883-117… NM_001400703.1:c.-883-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 60 |
NM_001400704.1:c.-692-117… NM_001400704.1:c.-692-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 61 |
NM_001400706.1:c.-635-117… NM_001400706.1:c.-635-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 62 |
NM_001400708.1:c.-620-117… NM_001400708.1:c.-620-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 63 |
NM_001400710.1:c.-808-117… NM_001400710.1:c.-808-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 64 |
NM_001400712.1:c.-1083-11… NM_001400712.1:c.-1083-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 65 |
NM_001400713.1:c.-692-117… NM_001400713.1:c.-692-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 66 |
NM_001400715.1:c.-620-117… NM_001400715.1:c.-620-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 67 |
NM_001400716.1:c.-620-117… NM_001400716.1:c.-620-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 68 |
NM_001400717.1:c.-506-317… NM_001400717.1:c.-506-31740AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 69 |
NM_001400718.1:c.-635-117… NM_001400718.1:c.-635-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 70 |
NM_001400719.1:c.-504-117… NM_001400719.1:c.-504-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 71 |
NM_001400720.1:c.-384-117… NM_001400720.1:c.-384-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 72 |
NM_001400721.1:c.-391+322… NM_001400721.1:c.-391+32246AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 73 |
NM_001400722.1:c.-823-117… NM_001400722.1:c.-823-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 74 |
NM_001400723.1:c.-504-117… NM_001400723.1:c.-504-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 75 |
NM_001400724.1:c.-678-117… NM_001400724.1:c.-678-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 86 |
NM_001400735.1:c.-390-432… NM_001400735.1:c.-390-43279AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 87 |
NM_001400736.1:c.-391+322… NM_001400736.1:c.-391+32246AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 88 |
NM_001400737.1:c.-353-117… NM_001400737.1:c.-353-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 89 |
NM_001400738.1:c.-620-117… NM_001400738.1:c.-620-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 90 |
NM_001400739.1:c.-767-117… NM_001400739.1:c.-767-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 91 |
NM_001400740.1:c.-979-117… NM_001400740.1:c.-979-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 92 |
NM_001400741.1:c.-504-117… NM_001400741.1:c.-504-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 93 |
NM_001400742.1:c.-579-117… NM_001400742.1:c.-579-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 94 |
NM_001400743.1:c.-635-117… NM_001400743.1:c.-635-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 95 |
NM_001400744.1:c.-452-117… NM_001400744.1:c.-452-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 96 |
NM_001400745.1:c.-504-117… NM_001400745.1:c.-504-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 97 |
NM_001400746.1:c.-579-117… NM_001400746.1:c.-579-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 98 |
NM_001400747.1:c.-544-117… NM_001400747.1:c.-544-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 99 |
NM_001400748.1:c.-504-117… NM_001400748.1:c.-504-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 100 |
NM_001400753.1:c.-840-117… NM_001400753.1:c.-840-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 101 |
NM_001400754.1:c.-451-117… NM_001400754.1:c.-451-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 102 |
NM_001400755.1:c.-767-117… NM_001400755.1:c.-767-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 103 |
NM_001400756.1:c.-428-117… NM_001400756.1:c.-428-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 104 |
NM_001400757.1:c.-751-117… NM_001400757.1:c.-751-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 105 |
NM_001400758.1:c.-794-117… NM_001400758.1:c.-794-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 106 |
NM_001400759.1:c.-414+322… NM_001400759.1:c.-414+32263AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 2 |
NM_022805.5:c.-504-1176AT… NM_022805.5:c.-504-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 3 |
NM_022806.5:c.-504-1176AT… NM_022806.5:c.-504-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 4 |
NM_022807.5:c.-504-1176AT… NM_022807.5:c.-504-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 5 |
NM_022808.5:c.-504-1176AT… NM_022808.5:c.-504-1176AT[3] |
N/A | Intron Variant |
SNRPN transcript variant 15 | NM_001349463.2:c. | N/A | Genic Upstream Transcript Variant |
SNRPN transcript variant 16 | NM_001349464.2:c. | N/A | Genic Upstream Transcript Variant |
SNRPN transcript variant 17 | NM_001349465.2:c. | N/A | Genic Upstream Transcript Variant |
SNRPN transcript variant 18 | NM_001378249.1:c. | N/A | Genic Upstream Transcript Variant |
SNRPN transcript variant 20 | NM_001378252.1:c. | N/A | Genic Upstream Transcript Variant |
SNRPN transcript variant 21 | NM_001378253.1:c. | N/A | Genic Upstream Transcript Variant |
SNRPN transcript variant 22 | NM_001378254.1:c. | N/A | Genic Upstream Transcript Variant |
SNRPN transcript variant 23 | NM_001378255.1:c. | N/A | Genic Upstream Transcript Variant |
SNRPN transcript variant 24 | NM_001378256.1:c. | N/A | Genic Upstream Transcript Variant |
SNRPN transcript variant 25 | NM_001378257.1:c. | N/A | Genic Upstream Transcript Variant |
SNRPN transcript variant 76 | NM_001400725.1:c. | N/A | Genic Upstream Transcript Variant |
SNRPN transcript variant 77 | NM_001400726.1:c. | N/A | Genic Upstream Transcript Variant |
SNRPN transcript variant 78 | NM_001400727.1:c. | N/A | Genic Upstream Transcript Variant |
SNRPN transcript variant 79 | NM_001400728.1:c. | N/A | Genic Upstream Transcript Variant |
SNRPN transcript variant 80 | NM_001400729.1:c. | N/A | Genic Upstream Transcript Variant |
SNRPN transcript variant 81 | NM_001400730.1:c. | N/A | Genic Upstream Transcript Variant |
SNRPN transcript variant 82 | NM_001400731.1:c. | N/A | Genic Upstream Transcript Variant |
SNRPN transcript variant 83 | NM_001400732.1:c. | N/A | Genic Upstream Transcript Variant |
SNRPN transcript variant 84 | NM_001400733.1:c. | N/A | Genic Upstream Transcript Variant |
SNRPN transcript variant 85 | NM_001400734.1:c. | N/A | Genic Upstream Transcript Variant |
SNRPN transcript variant 107 | NM_001400762.1:c. | N/A | Genic Upstream Transcript Variant |
SNRPN transcript variant 108 | NM_001400763.1:c. | N/A | Genic Upstream Transcript Variant |
SNRPN transcript variant 109 | NM_001400764.1:c. | N/A | Genic Upstream Transcript Variant |
SNRPN transcript variant 110 | NM_001400765.1:c. | N/A | Genic Upstream Transcript Variant |
SNRPN transcript variant 111 | NM_001400767.1:c. | N/A | Genic Upstream Transcript Variant |
SNRPN transcript variant 112 | NM_001400768.1:c. | N/A | Genic Upstream Transcript Variant |
SNRPN transcript variant 1 | NM_003097.6:c. | N/A | Genic Upstream Transcript Variant |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
SNHG14 transcript | NR_146177.1:n. | N/A | Intron Variant |
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 | (AT)5= | delATAT | delAT | dupAT | dupATAT | dup(AT)4 |
---|---|---|---|---|---|---|
GRCh38.p14 chr 15 | NC_000015.10:g.24918835_24918844= | NC_000015.10:g.24918835AT[3] | NC_000015.10:g.24918835AT[4] | NC_000015.10:g.24918835AT[6] | NC_000015.10:g.24918835AT[7] | NC_000015.10:g.24918835AT[9] |
GRCh37.p13 chr 15 | NC_000015.9:g.25163982_25163991= | NC_000015.9:g.25163982AT[3] | NC_000015.9:g.25163982AT[4] | NC_000015.9:g.25163982AT[6] | NC_000015.9:g.25163982AT[7] | NC_000015.9:g.25163982AT[9] |
PWSAS genomic region | NG_002690.1:g.137926_137935= | NG_002690.1:g.137926AT[3] | NG_002690.1:g.137926AT[4] | NG_002690.1:g.137926AT[6] | NG_002690.1:g.137926AT[7] | NG_002690.1:g.137926AT[9] |
SNRPN-SNURF RefSeqGene | NG_012958.1:g.100189_100198= | NG_012958.1:g.100189AT[3] | NG_012958.1:g.100189AT[4] | NG_012958.1:g.100189AT[6] | NG_012958.1:g.100189AT[7] | NG_012958.1:g.100189AT[9] |
SNRPN transcript variant 6 | NM_001349454.2:c.-559-1176= | NM_001349454.2:c.-559-1176AT[3] | NM_001349454.2:c.-559-1176AT[4] | NM_001349454.2:c.-559-1176AT[6] | NM_001349454.2:c.-559-1176AT[7] | NM_001349454.2:c.-559-1176AT[9] |
SNRPN transcript variant 7 | NM_001349455.2:c.-504-1176= | NM_001349455.2:c.-504-1176AT[3] | NM_001349455.2:c.-504-1176AT[4] | NM_001349455.2:c.-504-1176AT[6] | NM_001349455.2:c.-504-1176AT[7] | NM_001349455.2:c.-504-1176AT[9] |
SNRPN transcript variant 8 | NM_001349456.2:c.-579-1176= | NM_001349456.2:c.-579-1176AT[3] | NM_001349456.2:c.-579-1176AT[4] | NM_001349456.2:c.-579-1176AT[6] | NM_001349456.2:c.-579-1176AT[7] | NM_001349456.2:c.-579-1176AT[9] |
SNRPN transcript variant 9 | NM_001349457.2:c.-504-1176= | NM_001349457.2:c.-504-1176AT[3] | NM_001349457.2:c.-504-1176AT[4] | NM_001349457.2:c.-504-1176AT[6] | NM_001349457.2:c.-504-1176AT[7] | NM_001349457.2:c.-504-1176AT[9] |
SNRPN transcript variant 10 | NM_001349458.2:c.-504-1176= | NM_001349458.2:c.-504-1176AT[3] | NM_001349458.2:c.-504-1176AT[4] | NM_001349458.2:c.-504-1176AT[6] | NM_001349458.2:c.-504-1176AT[7] | NM_001349458.2:c.-504-1176AT[9] |
SNRPN transcript variant 11 | NM_001349459.2:c.-504-1176= | NM_001349459.2:c.-504-1176AT[3] | NM_001349459.2:c.-504-1176AT[4] | NM_001349459.2:c.-504-1176AT[6] | NM_001349459.2:c.-504-1176AT[7] | NM_001349459.2:c.-504-1176AT[9] |
SNRPN transcript variant 12 | NM_001349460.2:c.-579-1176= | NM_001349460.2:c.-579-1176AT[3] | NM_001349460.2:c.-579-1176AT[4] | NM_001349460.2:c.-579-1176AT[6] | NM_001349460.2:c.-579-1176AT[7] | NM_001349460.2:c.-579-1176AT[9] |
SNRPN transcript variant 13 | NM_001349461.2:c.-579-1176= | NM_001349461.2:c.-579-1176AT[3] | NM_001349461.2:c.-579-1176AT[4] | NM_001349461.2:c.-579-1176AT[6] | NM_001349461.2:c.-579-1176AT[7] | NM_001349461.2:c.-579-1176AT[9] |
SNRPN transcript variant 14 | NM_001349462.2:c.-504-1176= | NM_001349462.2:c.-504-1176AT[3] | NM_001349462.2:c.-504-1176AT[4] | NM_001349462.2:c.-504-1176AT[6] | NM_001349462.2:c.-504-1176AT[7] | NM_001349462.2:c.-504-1176AT[9] |
SNRPN transcript variant 19 | NM_001378251.1:c.-737-1176= | NM_001378251.1:c.-737-1176AT[3] | NM_001378251.1:c.-737-1176AT[4] | NM_001378251.1:c.-737-1176AT[6] | NM_001378251.1:c.-737-1176AT[7] | NM_001378251.1:c.-737-1176AT[9] |
SNRPN transcript variant 26 | NM_001400634.1:c.-353-1176= | NM_001400634.1:c.-353-1176AT[3] | NM_001400634.1:c.-353-1176AT[4] | NM_001400634.1:c.-353-1176AT[6] | NM_001400634.1:c.-353-1176AT[7] | NM_001400634.1:c.-353-1176AT[9] |
SNRPN transcript variant 27 | NM_001400635.1:c.-678-1176= | NM_001400635.1:c.-678-1176AT[3] | NM_001400635.1:c.-678-1176AT[4] | NM_001400635.1:c.-678-1176AT[6] | NM_001400635.1:c.-678-1176AT[7] | NM_001400635.1:c.-678-1176AT[9] |
SNRPN transcript variant 28 | NM_001400636.1:c.-487-31759= | NM_001400636.1:c.-487-31759AT[3] | NM_001400636.1:c.-487-31759AT[4] | NM_001400636.1:c.-487-31759AT[6] | NM_001400636.1:c.-487-31759AT[7] | NM_001400636.1:c.-487-31759AT[9] |
SNRPN transcript variant 29 | NM_001400637.1:c.-504-1176= | NM_001400637.1:c.-504-1176AT[3] | NM_001400637.1:c.-504-1176AT[4] | NM_001400637.1:c.-504-1176AT[6] | NM_001400637.1:c.-504-1176AT[7] | NM_001400637.1:c.-504-1176AT[9] |
SNRPN transcript variant 30 | NM_001400638.1:c.-504-1176= | NM_001400638.1:c.-504-1176AT[3] | NM_001400638.1:c.-504-1176AT[4] | NM_001400638.1:c.-504-1176AT[6] | NM_001400638.1:c.-504-1176AT[7] | NM_001400638.1:c.-504-1176AT[9] |
SNRPN transcript variant 31 | NM_001400639.1:c.-620-1176= | NM_001400639.1:c.-620-1176AT[3] | NM_001400639.1:c.-620-1176AT[4] | NM_001400639.1:c.-620-1176AT[6] | NM_001400639.1:c.-620-1176AT[7] | NM_001400639.1:c.-620-1176AT[9] |
SNRPN transcript variant 32 | NM_001400640.1:c.-794-1176= | NM_001400640.1:c.-794-1176AT[3] | NM_001400640.1:c.-794-1176AT[4] | NM_001400640.1:c.-794-1176AT[6] | NM_001400640.1:c.-794-1176AT[7] | NM_001400640.1:c.-794-1176AT[9] |
SNRPN transcript variant 33 | NM_001400641.1:c.-620-1176= | NM_001400641.1:c.-620-1176AT[3] | NM_001400641.1:c.-620-1176AT[4] | NM_001400641.1:c.-620-1176AT[6] | NM_001400641.1:c.-620-1176AT[7] | NM_001400641.1:c.-620-1176AT[9] |
SNRPN transcript variant 34 | NM_001400643.1:c.-620-1176= | NM_001400643.1:c.-620-1176AT[3] | NM_001400643.1:c.-620-1176AT[4] | NM_001400643.1:c.-620-1176AT[6] | NM_001400643.1:c.-620-1176AT[7] | NM_001400643.1:c.-620-1176AT[9] |
SNRPN transcript variant 35 | NM_001400644.1:c.-710-1176= | NM_001400644.1:c.-710-1176AT[3] | NM_001400644.1:c.-710-1176AT[4] | NM_001400644.1:c.-710-1176AT[6] | NM_001400644.1:c.-710-1176AT[7] | NM_001400644.1:c.-710-1176AT[9] |
SNRPN transcript variant 36 | NM_001400646.1:c.-751-1176= | NM_001400646.1:c.-751-1176AT[3] | NM_001400646.1:c.-751-1176AT[4] | NM_001400646.1:c.-751-1176AT[6] | NM_001400646.1:c.-751-1176AT[7] | NM_001400646.1:c.-751-1176AT[9] |
SNRPN transcript variant 37 | NM_001400647.1:c.-620-1176= | NM_001400647.1:c.-620-1176AT[3] | NM_001400647.1:c.-620-1176AT[4] | NM_001400647.1:c.-620-1176AT[6] | NM_001400647.1:c.-620-1176AT[7] | NM_001400647.1:c.-620-1176AT[9] |
SNRPN transcript variant 38 | NM_001400649.1:c.-635-1176= | NM_001400649.1:c.-635-1176AT[3] | NM_001400649.1:c.-635-1176AT[4] | NM_001400649.1:c.-635-1176AT[6] | NM_001400649.1:c.-635-1176AT[7] | NM_001400649.1:c.-635-1176AT[9] |
SNRPN transcript variant 39 | NM_001400650.1:c.-390-43279= | NM_001400650.1:c.-390-43279AT[3] | NM_001400650.1:c.-390-43279AT[4] | NM_001400650.1:c.-390-43279AT[6] | NM_001400650.1:c.-390-43279AT[7] | NM_001400650.1:c.-390-43279AT[9] |
SNRPN transcript variant 40 | NM_001400652.1:c.-791-1176= | NM_001400652.1:c.-791-1176AT[3] | NM_001400652.1:c.-791-1176AT[4] | NM_001400652.1:c.-791-1176AT[6] | NM_001400652.1:c.-791-1176AT[7] | NM_001400652.1:c.-791-1176AT[9] |
SNRPN transcript variant 41 | NM_001400683.1:c.-695-1176= | NM_001400683.1:c.-695-1176AT[3] | NM_001400683.1:c.-695-1176AT[4] | NM_001400683.1:c.-695-1176AT[6] | NM_001400683.1:c.-695-1176AT[7] | NM_001400683.1:c.-695-1176AT[9] |
SNRPN transcript variant 42 | NM_001400684.1:c.-692-1176= | NM_001400684.1:c.-692-1176AT[3] | NM_001400684.1:c.-692-1176AT[4] | NM_001400684.1:c.-692-1176AT[6] | NM_001400684.1:c.-692-1176AT[7] | NM_001400684.1:c.-692-1176AT[9] |
SNRPN transcript variant 43 | NM_001400685.1:c.-504-1176= | NM_001400685.1:c.-504-1176AT[3] | NM_001400685.1:c.-504-1176AT[4] | NM_001400685.1:c.-504-1176AT[6] | NM_001400685.1:c.-504-1176AT[7] | NM_001400685.1:c.-504-1176AT[9] |
SNRPN transcript variant 44 | NM_001400686.1:c.-823-1176= | NM_001400686.1:c.-823-1176AT[3] | NM_001400686.1:c.-823-1176AT[4] | NM_001400686.1:c.-823-1176AT[6] | NM_001400686.1:c.-823-1176AT[7] | NM_001400686.1:c.-823-1176AT[9] |
SNRPN transcript variant 45 | NM_001400687.1:c.-504-1176= | NM_001400687.1:c.-504-1176AT[3] | NM_001400687.1:c.-504-1176AT[4] | NM_001400687.1:c.-504-1176AT[6] | NM_001400687.1:c.-504-1176AT[7] | NM_001400687.1:c.-504-1176AT[9] |
SNRPN transcript variant 46 | NM_001400688.1:c.-504-1176= | NM_001400688.1:c.-504-1176AT[3] | NM_001400688.1:c.-504-1176AT[4] | NM_001400688.1:c.-504-1176AT[6] | NM_001400688.1:c.-504-1176AT[7] | NM_001400688.1:c.-504-1176AT[9] |
SNRPN transcript variant 47 | NM_001400689.1:c.-579-1176= | NM_001400689.1:c.-579-1176AT[3] | NM_001400689.1:c.-579-1176AT[4] | NM_001400689.1:c.-579-1176AT[6] | NM_001400689.1:c.-579-1176AT[7] | NM_001400689.1:c.-579-1176AT[9] |
SNRPN transcript variant 48 | NM_001400690.1:c.-692-1176= | NM_001400690.1:c.-692-1176AT[3] | NM_001400690.1:c.-692-1176AT[4] | NM_001400690.1:c.-692-1176AT[6] | NM_001400690.1:c.-692-1176AT[7] | NM_001400690.1:c.-692-1176AT[9] |
SNRPN transcript variant 49 | NM_001400691.1:c.-504-1176= | NM_001400691.1:c.-504-1176AT[3] | NM_001400691.1:c.-504-1176AT[4] | NM_001400691.1:c.-504-1176AT[6] | NM_001400691.1:c.-504-1176AT[7] | NM_001400691.1:c.-504-1176AT[9] |
SNRPN transcript variant 50 | NM_001400692.1:c.-692-1176= | NM_001400692.1:c.-692-1176AT[3] | NM_001400692.1:c.-692-1176AT[4] | NM_001400692.1:c.-692-1176AT[6] | NM_001400692.1:c.-692-1176AT[7] | NM_001400692.1:c.-692-1176AT[9] |
SNRPN transcript variant 51 | NM_001400693.1:c.-635-1176= | NM_001400693.1:c.-635-1176AT[3] | NM_001400693.1:c.-635-1176AT[4] | NM_001400693.1:c.-635-1176AT[6] | NM_001400693.1:c.-635-1176AT[7] | NM_001400693.1:c.-635-1176AT[9] |
SNRPN transcript variant 52 | NM_001400694.1:c.-635-1176= | NM_001400694.1:c.-635-1176AT[3] | NM_001400694.1:c.-635-1176AT[4] | NM_001400694.1:c.-635-1176AT[6] | NM_001400694.1:c.-635-1176AT[7] | NM_001400694.1:c.-635-1176AT[9] |
SNRPN transcript variant 53 | NM_001400695.1:c.-678-1176= | NM_001400695.1:c.-678-1176AT[3] | NM_001400695.1:c.-678-1176AT[4] | NM_001400695.1:c.-678-1176AT[6] | NM_001400695.1:c.-678-1176AT[7] | NM_001400695.1:c.-678-1176AT[9] |
SNRPN transcript variant 54 | NM_001400696.1:c.-628-1176= | NM_001400696.1:c.-628-1176AT[3] | NM_001400696.1:c.-628-1176AT[4] | NM_001400696.1:c.-628-1176AT[6] | NM_001400696.1:c.-628-1176AT[7] | NM_001400696.1:c.-628-1176AT[9] |
SNRPN transcript variant 55 | NM_001400697.1:c.-318+32246= | NM_001400697.1:c.-318+32246AT[3] | NM_001400697.1:c.-318+32246AT[4] | NM_001400697.1:c.-318+32246AT[6] | NM_001400697.1:c.-318+32246AT[7] | NM_001400697.1:c.-318+32246AT[9] |
SNRPN transcript variant 56 | NM_001400698.1:c.-469-1176= | NM_001400698.1:c.-469-1176AT[3] | NM_001400698.1:c.-469-1176AT[4] | NM_001400698.1:c.-469-1176AT[6] | NM_001400698.1:c.-469-1176AT[7] | NM_001400698.1:c.-469-1176AT[9] |
SNRPN transcript variant 57 | NM_001400701.1:c.-751-1176= | NM_001400701.1:c.-751-1176AT[3] | NM_001400701.1:c.-751-1176AT[4] | NM_001400701.1:c.-751-1176AT[6] | NM_001400701.1:c.-751-1176AT[7] | NM_001400701.1:c.-751-1176AT[9] |
SNRPN transcript variant 58 | NM_001400702.1:c.-695-1176= | NM_001400702.1:c.-695-1176AT[3] | NM_001400702.1:c.-695-1176AT[4] | NM_001400702.1:c.-695-1176AT[6] | NM_001400702.1:c.-695-1176AT[7] | NM_001400702.1:c.-695-1176AT[9] |
SNRPN transcript variant 59 | NM_001400703.1:c.-883-1176= | NM_001400703.1:c.-883-1176AT[3] | NM_001400703.1:c.-883-1176AT[4] | NM_001400703.1:c.-883-1176AT[6] | NM_001400703.1:c.-883-1176AT[7] | NM_001400703.1:c.-883-1176AT[9] |
SNRPN transcript variant 60 | NM_001400704.1:c.-692-1176= | NM_001400704.1:c.-692-1176AT[3] | NM_001400704.1:c.-692-1176AT[4] | NM_001400704.1:c.-692-1176AT[6] | NM_001400704.1:c.-692-1176AT[7] | NM_001400704.1:c.-692-1176AT[9] |
SNRPN transcript variant 61 | NM_001400706.1:c.-635-1176= | NM_001400706.1:c.-635-1176AT[3] | NM_001400706.1:c.-635-1176AT[4] | NM_001400706.1:c.-635-1176AT[6] | NM_001400706.1:c.-635-1176AT[7] | NM_001400706.1:c.-635-1176AT[9] |
SNRPN transcript variant 62 | NM_001400708.1:c.-620-1176= | NM_001400708.1:c.-620-1176AT[3] | NM_001400708.1:c.-620-1176AT[4] | NM_001400708.1:c.-620-1176AT[6] | NM_001400708.1:c.-620-1176AT[7] | NM_001400708.1:c.-620-1176AT[9] |
SNRPN transcript variant 63 | NM_001400710.1:c.-808-1176= | NM_001400710.1:c.-808-1176AT[3] | NM_001400710.1:c.-808-1176AT[4] | NM_001400710.1:c.-808-1176AT[6] | NM_001400710.1:c.-808-1176AT[7] | NM_001400710.1:c.-808-1176AT[9] |
SNRPN transcript variant 64 | NM_001400712.1:c.-1083-1176= | NM_001400712.1:c.-1083-1176AT[3] | NM_001400712.1:c.-1083-1176AT[4] | NM_001400712.1:c.-1083-1176AT[6] | NM_001400712.1:c.-1083-1176AT[7] | NM_001400712.1:c.-1083-1176AT[9] |
SNRPN transcript variant 65 | NM_001400713.1:c.-692-1176= | NM_001400713.1:c.-692-1176AT[3] | NM_001400713.1:c.-692-1176AT[4] | NM_001400713.1:c.-692-1176AT[6] | NM_001400713.1:c.-692-1176AT[7] | NM_001400713.1:c.-692-1176AT[9] |
SNRPN transcript variant 66 | NM_001400715.1:c.-620-1176= | NM_001400715.1:c.-620-1176AT[3] | NM_001400715.1:c.-620-1176AT[4] | NM_001400715.1:c.-620-1176AT[6] | NM_001400715.1:c.-620-1176AT[7] | NM_001400715.1:c.-620-1176AT[9] |
SNRPN transcript variant 67 | NM_001400716.1:c.-620-1176= | NM_001400716.1:c.-620-1176AT[3] | NM_001400716.1:c.-620-1176AT[4] | NM_001400716.1:c.-620-1176AT[6] | NM_001400716.1:c.-620-1176AT[7] | NM_001400716.1:c.-620-1176AT[9] |
SNRPN transcript variant 68 | NM_001400717.1:c.-506-31740= | NM_001400717.1:c.-506-31740AT[3] | NM_001400717.1:c.-506-31740AT[4] | NM_001400717.1:c.-506-31740AT[6] | NM_001400717.1:c.-506-31740AT[7] | NM_001400717.1:c.-506-31740AT[9] |
SNRPN transcript variant 69 | NM_001400718.1:c.-635-1176= | NM_001400718.1:c.-635-1176AT[3] | NM_001400718.1:c.-635-1176AT[4] | NM_001400718.1:c.-635-1176AT[6] | NM_001400718.1:c.-635-1176AT[7] | NM_001400718.1:c.-635-1176AT[9] |
SNRPN transcript variant 70 | NM_001400719.1:c.-504-1176= | NM_001400719.1:c.-504-1176AT[3] | NM_001400719.1:c.-504-1176AT[4] | NM_001400719.1:c.-504-1176AT[6] | NM_001400719.1:c.-504-1176AT[7] | NM_001400719.1:c.-504-1176AT[9] |
SNRPN transcript variant 71 | NM_001400720.1:c.-384-1176= | NM_001400720.1:c.-384-1176AT[3] | NM_001400720.1:c.-384-1176AT[4] | NM_001400720.1:c.-384-1176AT[6] | NM_001400720.1:c.-384-1176AT[7] | NM_001400720.1:c.-384-1176AT[9] |
SNRPN transcript variant 72 | NM_001400721.1:c.-391+32246= | NM_001400721.1:c.-391+32246AT[3] | NM_001400721.1:c.-391+32246AT[4] | NM_001400721.1:c.-391+32246AT[6] | NM_001400721.1:c.-391+32246AT[7] | NM_001400721.1:c.-391+32246AT[9] |
SNRPN transcript variant 73 | NM_001400722.1:c.-823-1176= | NM_001400722.1:c.-823-1176AT[3] | NM_001400722.1:c.-823-1176AT[4] | NM_001400722.1:c.-823-1176AT[6] | NM_001400722.1:c.-823-1176AT[7] | NM_001400722.1:c.-823-1176AT[9] |
SNRPN transcript variant 74 | NM_001400723.1:c.-504-1176= | NM_001400723.1:c.-504-1176AT[3] | NM_001400723.1:c.-504-1176AT[4] | NM_001400723.1:c.-504-1176AT[6] | NM_001400723.1:c.-504-1176AT[7] | NM_001400723.1:c.-504-1176AT[9] |
SNRPN transcript variant 75 | NM_001400724.1:c.-678-1176= | NM_001400724.1:c.-678-1176AT[3] | NM_001400724.1:c.-678-1176AT[4] | NM_001400724.1:c.-678-1176AT[6] | NM_001400724.1:c.-678-1176AT[7] | NM_001400724.1:c.-678-1176AT[9] |
SNRPN transcript variant 86 | NM_001400735.1:c.-390-43279= | NM_001400735.1:c.-390-43279AT[3] | NM_001400735.1:c.-390-43279AT[4] | NM_001400735.1:c.-390-43279AT[6] | NM_001400735.1:c.-390-43279AT[7] | NM_001400735.1:c.-390-43279AT[9] |
SNRPN transcript variant 87 | NM_001400736.1:c.-391+32246= | NM_001400736.1:c.-391+32246AT[3] | NM_001400736.1:c.-391+32246AT[4] | NM_001400736.1:c.-391+32246AT[6] | NM_001400736.1:c.-391+32246AT[7] | NM_001400736.1:c.-391+32246AT[9] |
SNRPN transcript variant 88 | NM_001400737.1:c.-353-1176= | NM_001400737.1:c.-353-1176AT[3] | NM_001400737.1:c.-353-1176AT[4] | NM_001400737.1:c.-353-1176AT[6] | NM_001400737.1:c.-353-1176AT[7] | NM_001400737.1:c.-353-1176AT[9] |
SNRPN transcript variant 89 | NM_001400738.1:c.-620-1176= | NM_001400738.1:c.-620-1176AT[3] | NM_001400738.1:c.-620-1176AT[4] | NM_001400738.1:c.-620-1176AT[6] | NM_001400738.1:c.-620-1176AT[7] | NM_001400738.1:c.-620-1176AT[9] |
SNRPN transcript variant 90 | NM_001400739.1:c.-767-1176= | NM_001400739.1:c.-767-1176AT[3] | NM_001400739.1:c.-767-1176AT[4] | NM_001400739.1:c.-767-1176AT[6] | NM_001400739.1:c.-767-1176AT[7] | NM_001400739.1:c.-767-1176AT[9] |
SNRPN transcript variant 91 | NM_001400740.1:c.-979-1176= | NM_001400740.1:c.-979-1176AT[3] | NM_001400740.1:c.-979-1176AT[4] | NM_001400740.1:c.-979-1176AT[6] | NM_001400740.1:c.-979-1176AT[7] | NM_001400740.1:c.-979-1176AT[9] |
SNRPN transcript variant 92 | NM_001400741.1:c.-504-1176= | NM_001400741.1:c.-504-1176AT[3] | NM_001400741.1:c.-504-1176AT[4] | NM_001400741.1:c.-504-1176AT[6] | NM_001400741.1:c.-504-1176AT[7] | NM_001400741.1:c.-504-1176AT[9] |
SNRPN transcript variant 93 | NM_001400742.1:c.-579-1176= | NM_001400742.1:c.-579-1176AT[3] | NM_001400742.1:c.-579-1176AT[4] | NM_001400742.1:c.-579-1176AT[6] | NM_001400742.1:c.-579-1176AT[7] | NM_001400742.1:c.-579-1176AT[9] |
SNRPN transcript variant 94 | NM_001400743.1:c.-635-1176= | NM_001400743.1:c.-635-1176AT[3] | NM_001400743.1:c.-635-1176AT[4] | NM_001400743.1:c.-635-1176AT[6] | NM_001400743.1:c.-635-1176AT[7] | NM_001400743.1:c.-635-1176AT[9] |
SNRPN transcript variant 95 | NM_001400744.1:c.-452-1176= | NM_001400744.1:c.-452-1176AT[3] | NM_001400744.1:c.-452-1176AT[4] | NM_001400744.1:c.-452-1176AT[6] | NM_001400744.1:c.-452-1176AT[7] | NM_001400744.1:c.-452-1176AT[9] |
SNRPN transcript variant 96 | NM_001400745.1:c.-504-1176= | NM_001400745.1:c.-504-1176AT[3] | NM_001400745.1:c.-504-1176AT[4] | NM_001400745.1:c.-504-1176AT[6] | NM_001400745.1:c.-504-1176AT[7] | NM_001400745.1:c.-504-1176AT[9] |
SNRPN transcript variant 97 | NM_001400746.1:c.-579-1176= | NM_001400746.1:c.-579-1176AT[3] | NM_001400746.1:c.-579-1176AT[4] | NM_001400746.1:c.-579-1176AT[6] | NM_001400746.1:c.-579-1176AT[7] | NM_001400746.1:c.-579-1176AT[9] |
SNRPN transcript variant 98 | NM_001400747.1:c.-544-1176= | NM_001400747.1:c.-544-1176AT[3] | NM_001400747.1:c.-544-1176AT[4] | NM_001400747.1:c.-544-1176AT[6] | NM_001400747.1:c.-544-1176AT[7] | NM_001400747.1:c.-544-1176AT[9] |
SNRPN transcript variant 99 | NM_001400748.1:c.-504-1176= | NM_001400748.1:c.-504-1176AT[3] | NM_001400748.1:c.-504-1176AT[4] | NM_001400748.1:c.-504-1176AT[6] | NM_001400748.1:c.-504-1176AT[7] | NM_001400748.1:c.-504-1176AT[9] |
SNRPN transcript variant 100 | NM_001400753.1:c.-840-1176= | NM_001400753.1:c.-840-1176AT[3] | NM_001400753.1:c.-840-1176AT[4] | NM_001400753.1:c.-840-1176AT[6] | NM_001400753.1:c.-840-1176AT[7] | NM_001400753.1:c.-840-1176AT[9] |
SNRPN transcript variant 101 | NM_001400754.1:c.-451-1176= | NM_001400754.1:c.-451-1176AT[3] | NM_001400754.1:c.-451-1176AT[4] | NM_001400754.1:c.-451-1176AT[6] | NM_001400754.1:c.-451-1176AT[7] | NM_001400754.1:c.-451-1176AT[9] |
SNRPN transcript variant 102 | NM_001400755.1:c.-767-1176= | NM_001400755.1:c.-767-1176AT[3] | NM_001400755.1:c.-767-1176AT[4] | NM_001400755.1:c.-767-1176AT[6] | NM_001400755.1:c.-767-1176AT[7] | NM_001400755.1:c.-767-1176AT[9] |
SNRPN transcript variant 103 | NM_001400756.1:c.-428-1176= | NM_001400756.1:c.-428-1176AT[3] | NM_001400756.1:c.-428-1176AT[4] | NM_001400756.1:c.-428-1176AT[6] | NM_001400756.1:c.-428-1176AT[7] | NM_001400756.1:c.-428-1176AT[9] |
SNRPN transcript variant 104 | NM_001400757.1:c.-751-1176= | NM_001400757.1:c.-751-1176AT[3] | NM_001400757.1:c.-751-1176AT[4] | NM_001400757.1:c.-751-1176AT[6] | NM_001400757.1:c.-751-1176AT[7] | NM_001400757.1:c.-751-1176AT[9] |
SNRPN transcript variant 105 | NM_001400758.1:c.-794-1176= | NM_001400758.1:c.-794-1176AT[3] | NM_001400758.1:c.-794-1176AT[4] | NM_001400758.1:c.-794-1176AT[6] | NM_001400758.1:c.-794-1176AT[7] | NM_001400758.1:c.-794-1176AT[9] |
SNRPN transcript variant 106 | NM_001400759.1:c.-414+32263= | NM_001400759.1:c.-414+32263AT[3] | NM_001400759.1:c.-414+32263AT[4] | NM_001400759.1:c.-414+32263AT[6] | NM_001400759.1:c.-414+32263AT[7] | NM_001400759.1:c.-414+32263AT[9] |
SNRPN transcript variant 2 | NM_022805.2:c.-504-1176= | NM_022805.2:c.-504-1176AT[3] | NM_022805.2:c.-504-1176AT[4] | NM_022805.2:c.-504-1176AT[6] | NM_022805.2:c.-504-1176AT[7] | NM_022805.2:c.-504-1176AT[9] |
SNRPN transcript variant 2 | NM_022805.5:c.-504-1176= | NM_022805.5:c.-504-1176AT[3] | NM_022805.5:c.-504-1176AT[4] | NM_022805.5:c.-504-1176AT[6] | NM_022805.5:c.-504-1176AT[7] | NM_022805.5:c.-504-1176AT[9] |
SNRPN transcript variant 3 | NM_022806.2:c.-504-1176= | NM_022806.2:c.-504-1176AT[3] | NM_022806.2:c.-504-1176AT[4] | NM_022806.2:c.-504-1176AT[6] | NM_022806.2:c.-504-1176AT[7] | NM_022806.2:c.-504-1176AT[9] |
SNRPN transcript variant 3 | NM_022806.5:c.-504-1176= | NM_022806.5:c.-504-1176AT[3] | NM_022806.5:c.-504-1176AT[4] | NM_022806.5:c.-504-1176AT[6] | NM_022806.5:c.-504-1176AT[7] | NM_022806.5:c.-504-1176AT[9] |
SNRPN transcript variant 4 | NM_022807.2:c.-504-1176= | NM_022807.2:c.-504-1176AT[3] | NM_022807.2:c.-504-1176AT[4] | NM_022807.2:c.-504-1176AT[6] | NM_022807.2:c.-504-1176AT[7] | NM_022807.2:c.-504-1176AT[9] |
SNRPN transcript variant 4 | NM_022807.5:c.-504-1176= | NM_022807.5:c.-504-1176AT[3] | NM_022807.5:c.-504-1176AT[4] | NM_022807.5:c.-504-1176AT[6] | NM_022807.5:c.-504-1176AT[7] | NM_022807.5:c.-504-1176AT[9] |
SNRPN transcript variant 5 | NM_022808.2:c.-504-1176= | NM_022808.2:c.-504-1176AT[3] | NM_022808.2:c.-504-1176AT[4] | NM_022808.2:c.-504-1176AT[6] | NM_022808.2:c.-504-1176AT[7] | NM_022808.2:c.-504-1176AT[9] |
SNRPN transcript variant 5 | NM_022808.5:c.-504-1176= | NM_022808.5:c.-504-1176AT[3] | NM_022808.5:c.-504-1176AT[4] | NM_022808.5:c.-504-1176AT[6] | NM_022808.5:c.-504-1176AT[7] | NM_022808.5:c.-504-1176AT[9] |
SNRPN transcript variant X1 | XM_005268263.1:c.-678-1176= | XM_005268263.1:c.-678-1176AT[3] | XM_005268263.1:c.-678-1176AT[4] | XM_005268263.1:c.-678-1176AT[6] | XM_005268263.1:c.-678-1176AT[7] | XM_005268263.1:c.-678-1176AT[9] |
SNRPN transcript variant X2 | XM_005268264.1:c.-504-1176= | XM_005268264.1:c.-504-1176AT[3] | XM_005268264.1:c.-504-1176AT[4] | XM_005268264.1:c.-504-1176AT[6] | XM_005268264.1:c.-504-1176AT[7] | XM_005268264.1:c.-504-1176AT[9] |
SNRPN transcript variant X3 | XM_005268265.1:c.-527-1176= | XM_005268265.1:c.-527-1176AT[3] | XM_005268265.1:c.-527-1176AT[4] | XM_005268265.1:c.-527-1176AT[6] | XM_005268265.1:c.-527-1176AT[7] | XM_005268265.1:c.-527-1176AT[9] |
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 | ss2932725109 | Nov 08, 2017 (151) |
2 | TOMMO_GENOMICS | ss5215299143 | Apr 27, 2021 (155) |
3 | TOMMO_GENOMICS | ss5215299144 | Apr 27, 2021 (155) |
4 | TOMMO_GENOMICS | ss5768845342 | Oct 16, 2022 (156) |
5 | TOMMO_GENOMICS | ss5768845343 | Oct 16, 2022 (156) |
6 | gnomAD - Genomes | NC_000015.10 - 24918835 | Apr 27, 2021 (155) |
7 |
8.3KJPN
Submission ignored due to conflicting rows: |
- | Apr 27, 2021 (155) |
8 |
8.3KJPN
Submission ignored due to conflicting rows: |
- | Apr 27, 2021 (155) |
9 |
14KJPN
Submission ignored due to conflicting rows: |
- | Oct 16, 2022 (156) |
10 |
14KJPN
Submission ignored due to conflicting rows: |
- | Oct 16, 2022 (156) |
11 | ALFA | NC_000015.10 - 24918835 | Apr 27, 2021 (155) |
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).
Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
---|---|---|---|
12915077063 |
NC_000015.10:24918834:ATATATATAT:A…
NC_000015.10:24918834:ATATATATAT:ATATAT |
NC_000015.10:24918834:ATATATATAT:A…
NC_000015.10:24918834:ATATATATAT:ATATAT |
(self) |
ss2932725109, ss5215299144 | NC_000015.9:25163981:AT: |
NC_000015.10:24918834:ATATATATAT:A…
NC_000015.10:24918834:ATATATATAT:ATATATAT |
(self) |
463606435, ss5768845343 | NC_000015.10:24918834:AT: |
NC_000015.10:24918834:ATATATATAT:A…
NC_000015.10:24918834:ATATATATAT:ATATATAT |
(self) |
12915077063 |
NC_000015.10:24918834:ATATATATAT:A…
NC_000015.10:24918834:ATATATATAT:ATATATAT |
NC_000015.10:24918834:ATATATATAT:A…
NC_000015.10:24918834:ATATATATAT:ATATATAT |
(self) |
12915077063 |
NC_000015.10:24918834:ATATATATAT:A…
NC_000015.10:24918834:ATATATATAT:ATATATATATAT |
NC_000015.10:24918834:ATATATATAT:A…
NC_000015.10:24918834:ATATATATAT:ATATATATATAT |
(self) |
12915077063 |
NC_000015.10:24918834:ATATATATAT:A…
NC_000015.10:24918834:ATATATATAT:ATATATATATATAT |
NC_000015.10:24918834:ATATATATAT:A…
NC_000015.10:24918834:ATATATATAT:ATATATATATATAT |
(self) |
ss5215299143 | NC_000015.9:25163981::ATATATAT |
NC_000015.10:24918834:ATATATATAT:A…
NC_000015.10:24918834:ATATATATAT:ATATATATATATATATAT |
(self) |
ss5768845342 | NC_000015.10:24918834::ATATATAT |
NC_000015.10:24918834:ATATATATAT:A…
NC_000015.10:24918834:ATATATATAT:ATATATATATATATATAT |
|
12915077063 |
NC_000015.10:24918834:ATATATATAT:A…
NC_000015.10:24918834:ATATATATAT:ATATATATATATATATAT |
NC_000015.10:24918834:ATATATATAT:A…
NC_000015.10:24918834:ATATATATAT:ATATATATATATATATAT |
(self) |
Submission IDs | Observation SPDI | Canonical SPDI | Destination RSIDs |
---|---|---|---|
ss3222635692 | NC_000015.10:24918834::AT |
NC_000015.10:24918834:ATATATATAT:A…
NC_000015.10:24918834:ATATATATAT:ATATATATATAT |
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
No publications for rs1397795516
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.