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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

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)
dupAT=0.00000 (0/11772, ALFA)
dupATAT=0.00000 (0/11772, ALFA)
dup(AT)4=0.00000 (0/11772, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
SNRPN : Intron Variant
SNHG14 : 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.

Release Version: 20231103111315
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


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
gnomAD - 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
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 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]
Gene: SNRPN, small nuclear ribonucleoprotein polypeptide N (plus strand)
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
Gene: SNHG14, small nucleolar RNA host gene 14 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
SNHG14 transcript NR_146177.1:n. N/A Intron Variant
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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
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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]
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#.

5 SubSNP, 6 Frequency submissions
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:
Row 73268450 (NC_000015.9:25163981::ATATATAT 2/16716)
Row 73268451 (NC_000015.9:25163981:AT: 2/16716)

- Apr 27, 2021 (155)
8 8.3KJPN

Submission ignored due to conflicting rows:
Row 73268450 (NC_000015.9:25163981::ATATATAT 2/16716)
Row 73268451 (NC_000015.9:25163981:AT: 2/16716)

- Apr 27, 2021 (155)
9 14KJPN

Submission ignored due to conflicting rows:
Row 102682446 (NC_000015.10:24918834::ATATATAT 2/28194)
Row 102682447 (NC_000015.10:24918834:AT: 2/28194)

- Oct 16, 2022 (156)
10 14KJPN

Submission ignored due to conflicting rows:
Row 102682446 (NC_000015.10:24918834::ATATATAT 2/28194)
Row 102682447 (NC_000015.10:24918834:AT: 2/28194)

- Oct 16, 2022 (156)
11 ALFA NC_000015.10 - 24918835 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).

Added to this RefSNP Cluster:
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)
Removed from this RefSNP Cluster:
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

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 rs1397795516

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
Top Help

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

Software version is: 2.0.1.post820+afb47a3d