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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs1456117336

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr2:190670336 (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
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.000007 (1/140228, GnomAD)
G=0.00004 (1/28256, 14KJPN)
G=0.00000 (0/10680, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
NAB1 : Missense Variant
Publications
0 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 10680 A=1.00000 G=0.00000 1.0 0.0 0.0 N/A
European Sub 6962 A=1.0000 G=0.0000 1.0 0.0 0.0 N/A
African Sub 2294 A=1.0000 G=0.0000 1.0 0.0 0.0 N/A
African Others Sub 84 A=1.00 G=0.00 1.0 0.0 0.0 N/A
African American Sub 2210 A=1.0000 G=0.0000 1.0 0.0 0.0 N/A
Asian Sub 108 A=1.000 G=0.000 1.0 0.0 0.0 N/A
East Asian Sub 84 A=1.00 G=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 A=1.00 G=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 A=1.000 G=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 A=1.000 G=0.000 1.0 0.0 0.0 N/A
South Asian Sub 94 A=1.00 G=0.00 1.0 0.0 0.0 N/A
Other Sub 466 A=1.000 G=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 140228 A=0.999993 G=0.000007
gnomAD - Genomes European Sub 75942 A=1.00000 G=0.00000
gnomAD - Genomes African Sub 42044 A=1.00000 G=0.00000
gnomAD - Genomes American Sub 13648 A=1.00000 G=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3320 A=1.0000 G=0.0000
gnomAD - Genomes East Asian Sub 3130 A=0.9997 G=0.0003
gnomAD - Genomes Other Sub 2144 A=1.0000 G=0.0000
14KJPN JAPANESE Study-wide 28256 A=0.99996 G=0.00004
Allele Frequency Aggregator Total Global 10680 A=1.00000 G=0.00000
Allele Frequency Aggregator European Sub 6962 A=1.0000 G=0.0000
Allele Frequency Aggregator African Sub 2294 A=1.0000 G=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 A=1.000 G=0.000
Allele Frequency Aggregator Other Sub 466 A=1.000 G=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 A=1.000 G=0.000
Allele Frequency Aggregator Asian Sub 108 A=1.000 G=0.000
Allele Frequency Aggregator South Asian Sub 94 A=1.00 G=0.00
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 2 NC_000002.12:g.190670336A>G
GRCh37.p13 chr 2 NC_000002.11:g.191535062A>G
Gene: NAB1, NGFI-A binding protein 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
NAB1 transcript variant 5 NM_001321315.1:c.830A>G N [AAT] > S [AGT] Coding Sequence Variant
NGFI-A-binding protein 1 isoform 3 NP_001308244.1:p.Asn277Ser N (Asn) > S (Ser) Missense Variant
NAB1 transcript variant 3 NM_001321313.1:c.830A>G N [AAT] > S [AGT] Coding Sequence Variant
NGFI-A-binding protein 1 isoform 1 NP_001308242.1:p.Asn277Ser N (Asn) > S (Ser) Missense Variant
NAB1 transcript variant 4 NM_001321314.1:c.830A>G N [AAT] > S [AGT] Coding Sequence Variant
NGFI-A-binding protein 1 isoform 2 NP_001308243.1:p.Asn277Ser N (Asn) > S (Ser) Missense Variant
NAB1 transcript variant 1 NM_005966.4:c.830A>G N [AAT] > S [AGT] Coding Sequence Variant
NGFI-A-binding protein 1 isoform 1 NP_005957.2:p.Asn277Ser N (Asn) > S (Ser) Missense Variant
NAB1 transcript variant 2 NM_001321312.2:c.830A>G N [AAT] > S [AGT] Coding Sequence Variant
NGFI-A-binding protein 1 isoform 1 NP_001308241.1:p.Asn277Ser N (Asn) > S (Ser) Missense Variant
NAB1 transcript variant X31 XM_017004174.1:c.830A>G N [AAT] > S [AGT] Coding Sequence Variant
NGFI-A-binding protein 1 isoform X2 XP_016859663.1:p.Asn277Ser N (Asn) > S (Ser) Missense Variant
NAB1 transcript variant X1 XM_047444442.1:c.830A>G N [AAT] > S [AGT] Coding Sequence Variant
NGFI-A-binding protein 1 isoform X1 XP_047300398.1:p.Asn277Ser N (Asn) > S (Ser) Missense Variant
NAB1 transcript variant X2 XM_047444443.1:c.830A>G N [AAT] > S [AGT] Coding Sequence Variant
NGFI-A-binding protein 1 isoform X1 XP_047300399.1:p.Asn277Ser N (Asn) > S (Ser) Missense Variant
NAB1 transcript variant X3 XM_047444444.1:c.830A>G N [AAT] > S [AGT] Coding Sequence Variant
NGFI-A-binding protein 1 isoform X1 XP_047300400.1:p.Asn277Ser N (Asn) > S (Ser) Missense Variant
NAB1 transcript variant X4 XM_047444445.1:c.830A>G N [AAT] > S [AGT] Coding Sequence Variant
NGFI-A-binding protein 1 isoform X1 XP_047300401.1:p.Asn277Ser N (Asn) > S (Ser) Missense Variant
NAB1 transcript variant X5 XM_047444446.1:c.830A>G N [AAT] > S [AGT] Coding Sequence Variant
NGFI-A-binding protein 1 isoform X1 XP_047300402.1:p.Asn277Ser N (Asn) > S (Ser) Missense Variant
NAB1 transcript variant X6 XM_005246583.2:c.830A>G N [AAT] > S [AGT] Coding Sequence Variant
NGFI-A-binding protein 1 isoform X1 XP_005246640.1:p.Asn277Ser N (Asn) > S (Ser) Missense Variant
NAB1 transcript variant X7 XM_047444447.1:c.830A>G N [AAT] > S [AGT] Coding Sequence Variant
NGFI-A-binding protein 1 isoform X1 XP_047300403.1:p.Asn277Ser N (Asn) > S (Ser) Missense Variant
NAB1 transcript variant X8 XM_047444448.1:c.830A>G N [AAT] > S [AGT] Coding Sequence Variant
NGFI-A-binding protein 1 isoform X1 XP_047300404.1:p.Asn277Ser N (Asn) > S (Ser) Missense Variant
NAB1 transcript variant X9 XM_024452917.2:c.830A>G N [AAT] > S [AGT] Coding Sequence Variant
NGFI-A-binding protein 1 isoform X1 XP_024308685.1:p.Asn277Ser N (Asn) > S (Ser) Missense Variant
NAB1 transcript variant X10 XM_005246582.2:c.830A>G N [AAT] > S [AGT] Coding Sequence Variant
NGFI-A-binding protein 1 isoform X1 XP_005246639.1:p.Asn277Ser N (Asn) > S (Ser) Missense Variant
NAB1 transcript variant X11 XM_047444449.1:c.830A>G N [AAT] > S [AGT] Coding Sequence Variant
NGFI-A-binding protein 1 isoform X1 XP_047300405.1:p.Asn277Ser N (Asn) > S (Ser) Missense Variant
NAB1 transcript variant X12 XM_017004170.2:c.830A>G N [AAT] > S [AGT] Coding Sequence Variant
NGFI-A-binding protein 1 isoform X1 XP_016859659.1:p.Asn277Ser N (Asn) > S (Ser) Missense Variant
NAB1 transcript variant X13 XM_047444450.1:c.830A>G N [AAT] > S [AGT] Coding Sequence Variant
NGFI-A-binding protein 1 isoform X1 XP_047300406.1:p.Asn277Ser N (Asn) > S (Ser) Missense Variant
NAB1 transcript variant X14 XM_017004176.2:c.830A>G N [AAT] > S [AGT] Coding Sequence Variant
NGFI-A-binding protein 1 isoform X1 XP_016859665.1:p.Asn277Ser N (Asn) > S (Ser) Missense Variant
NAB1 transcript variant X15 XM_047444451.1:c.830A>G N [AAT] > S [AGT] Coding Sequence Variant
NGFI-A-binding protein 1 isoform X1 XP_047300407.1:p.Asn277Ser N (Asn) > S (Ser) Missense Variant
NAB1 transcript variant X16 XM_047444452.1:c.830A>G N [AAT] > S [AGT] Coding Sequence Variant
NGFI-A-binding protein 1 isoform X1 XP_047300408.1:p.Asn277Ser N (Asn) > S (Ser) Missense Variant
NAB1 transcript variant X17 XM_047444453.1:c.830A>G N [AAT] > S [AGT] Coding Sequence Variant
NGFI-A-binding protein 1 isoform X1 XP_047300409.1:p.Asn277Ser N (Asn) > S (Ser) Missense Variant
NAB1 transcript variant X18 XM_047444454.1:c.830A>G N [AAT] > S [AGT] Coding Sequence Variant
NGFI-A-binding protein 1 isoform X1 XP_047300410.1:p.Asn277Ser N (Asn) > S (Ser) Missense Variant
NAB1 transcript variant X19 XM_047444456.1:c.830A>G N [AAT] > S [AGT] Coding Sequence Variant
NGFI-A-binding protein 1 isoform X1 XP_047300412.1:p.Asn277Ser N (Asn) > S (Ser) Missense Variant
NAB1 transcript variant X20 XM_011511219.4:c.830A>G N [AAT] > S [AGT] Coding Sequence Variant
NGFI-A-binding protein 1 isoform X1 XP_011509521.1:p.Asn277Ser N (Asn) > S (Ser) Missense Variant
NAB1 transcript variant X21 XM_047444457.1:c.830A>G N [AAT] > S [AGT] Coding Sequence Variant
NGFI-A-binding protein 1 isoform X2 XP_047300413.1:p.Asn277Ser N (Asn) > S (Ser) Missense Variant
NAB1 transcript variant X22 XM_047444458.1:c.830A>G N [AAT] > S [AGT] Coding Sequence Variant
NGFI-A-binding protein 1 isoform X2 XP_047300414.1:p.Asn277Ser N (Asn) > S (Ser) Missense Variant
NAB1 transcript variant X23 XM_017004172.3:c.830A>G N [AAT] > S [AGT] Coding Sequence Variant
NGFI-A-binding protein 1 isoform X2 XP_016859661.1:p.Asn277Ser N (Asn) > S (Ser) Missense Variant
NAB1 transcript variant X24 XM_047444459.1:c.830A>G N [AAT] > S [AGT] Coding Sequence Variant
NGFI-A-binding protein 1 isoform X2 XP_047300415.1:p.Asn277Ser N (Asn) > S (Ser) Missense Variant
NAB1 transcript variant X25 XM_047444460.1:c.830A>G N [AAT] > S [AGT] Coding Sequence Variant
NGFI-A-binding protein 1 isoform X2 XP_047300416.1:p.Asn277Ser N (Asn) > S (Ser) Missense Variant
NAB1 transcript variant X26 XM_047444461.1:c.830A>G N [AAT] > S [AGT] Coding Sequence Variant
NGFI-A-binding protein 1 isoform X2 XP_047300417.1:p.Asn277Ser N (Asn) > S (Ser) Missense Variant
NAB1 transcript variant X27 XM_017004173.2:c.830A>G N [AAT] > S [AGT] Coding Sequence Variant
NGFI-A-binding protein 1 isoform X2 XP_016859662.1:p.Asn277Ser N (Asn) > S (Ser) Missense Variant
NAB1 transcript variant X28 XM_047444462.1:c.830A>G N [AAT] > S [AGT] Coding Sequence Variant
NGFI-A-binding protein 1 isoform X2 XP_047300418.1:p.Asn277Ser N (Asn) > S (Ser) Missense Variant
NAB1 transcript variant X29 XM_047444464.1:c.830A>G N [AAT] > S [AGT] Coding Sequence Variant
NGFI-A-binding protein 1 isoform X2 XP_047300420.1:p.Asn277Ser N (Asn) > S (Ser) Missense Variant
NAB1 transcript variant X30 XM_047444465.1:c.830A>G N [AAT] > S [AGT] Coding Sequence Variant
NGFI-A-binding protein 1 isoform X2 XP_047300421.1:p.Asn277Ser N (Asn) > S (Ser) Missense Variant
NAB1 transcript variant X32 XM_047444466.1:c.830A>G N [AAT] > S [AGT] Coding Sequence Variant
NGFI-A-binding protein 1 isoform X2 XP_047300422.1:p.Asn277Ser N (Asn) > S (Ser) Missense Variant
NAB1 transcript variant X33 XM_047444467.1:c.830A>G N [AAT] > S [AGT] Coding Sequence Variant
NGFI-A-binding protein 1 isoform X3 XP_047300423.1:p.Asn277Ser N (Asn) > S (Ser) Missense Variant
NAB1 transcript variant X34 XM_047444468.1:c.830A>G N [AAT] > S [AGT] Coding Sequence Variant
NGFI-A-binding protein 1 isoform X3 XP_047300424.1:p.Asn277Ser N (Asn) > S (Ser) Missense Variant
NAB1 transcript variant X35 XM_047444469.1:c.830A>G N [AAT] > S [AGT] Coding Sequence Variant
NGFI-A-binding protein 1 isoform X3 XP_047300425.1:p.Asn277Ser N (Asn) > S (Ser) Missense Variant
NAB1 transcript variant X36 XM_017004175.3:c.830A>G N [AAT] > S [AGT] Coding Sequence Variant
NGFI-A-binding protein 1 isoform X3 XP_016859664.1:p.Asn277Ser N (Asn) > S (Ser) Missense Variant
NAB1 transcript variant X37 XM_047444470.1:c.830A>G N [AAT] > S [AGT] Coding Sequence Variant
NGFI-A-binding protein 1 isoform X3 XP_047300426.1:p.Asn277Ser N (Asn) > S (Ser) Missense Variant
NAB1 transcript variant X38 XM_047444471.1:c.830A>G N [AAT] > S [AGT] Coding Sequence Variant
NGFI-A-binding protein 1 isoform X3 XP_047300427.1:p.Asn277Ser N (Asn) > S (Ser) Missense Variant
NAB1 transcript variant X39 XM_047444472.1:c.830A>G N [AAT] > S [AGT] Coding Sequence Variant
NGFI-A-binding protein 1 isoform X3 XP_047300428.1:p.Asn277Ser N (Asn) > S (Ser) Missense Variant
NAB1 transcript variant X40 XM_047444473.1:c.830A>G N [AAT] > S [AGT] Coding Sequence Variant
NGFI-A-binding protein 1 isoform X3 XP_047300429.1:p.Asn277Ser N (Asn) > S (Ser) Missense Variant
NAB1 transcript variant X41 XM_047444474.1:c.830A>G N [AAT] > S [AGT] Coding Sequence Variant
NGFI-A-binding protein 1 isoform X3 XP_047300430.1:p.Asn277Ser N (Asn) > S (Ser) Missense Variant
NAB1 transcript variant X42 XM_047444475.1:c.830A>G N [AAT] > S [AGT] Coding Sequence Variant
NGFI-A-binding protein 1 isoform X3 XP_047300431.1:p.Asn277Ser N (Asn) > S (Ser) Missense Variant
NAB1 transcript variant X43 XM_047444476.1:c.830A>G N [AAT] > S [AGT] Coding Sequence Variant
NGFI-A-binding protein 1 isoform X3 XP_047300432.1:p.Asn277Ser N (Asn) > S (Ser) Missense Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement A= G
GRCh38.p14 chr 2 NC_000002.12:g.190670336= NC_000002.12:g.190670336A>G
GRCh37.p13 chr 2 NC_000002.11:g.191535062= NC_000002.11:g.191535062A>G
NAB1 transcript variant 1 NM_005966.4:c.830= NM_005966.4:c.830A>G
NAB1 transcript variant 1 NM_005966.3:c.830= NM_005966.3:c.830A>G
NAB1 transcript variant X20 XM_011511219.4:c.830= XM_011511219.4:c.830A>G
NAB1 transcript variant X1 XM_011511219.3:c.830= XM_011511219.3:c.830A>G
NAB1 transcript variant X1 XM_011511219.2:c.830= XM_011511219.2:c.830A>G
NAB1 transcript variant X6 XM_011511219.1:c.830= XM_011511219.1:c.830A>G
NAB1 transcript variant X23 XM_017004172.3:c.830= XM_017004172.3:c.830A>G
NAB1 transcript variant X8 XM_017004172.2:c.830= XM_017004172.2:c.830A>G
NAB1 transcript variant X7 XM_017004172.1:c.830= XM_017004172.1:c.830A>G
NAB1 transcript variant X36 XM_017004175.3:c.830= XM_017004175.3:c.830A>G
NAB1 transcript variant X12 XM_017004175.2:c.830= XM_017004175.2:c.830A>G
NAB1 transcript variant X11 XM_017004175.1:c.830= XM_017004175.1:c.830A>G
NAB1 transcript variant X6 XM_005246583.2:c.830= XM_005246583.2:c.830A>G
NAB1 transcript variant X2 XM_005246583.1:c.830= XM_005246583.1:c.830A>G
NAB1 transcript variant X9 XM_024452917.2:c.830= XM_024452917.2:c.830A>G
NAB1 transcript variant X3 XM_024452917.1:c.830= XM_024452917.1:c.830A>G
NAB1 transcript variant X27 XM_017004173.2:c.830= XM_017004173.2:c.830A>G
NAB1 transcript variant X9 XM_017004173.1:c.830= XM_017004173.1:c.830A>G
NAB1 transcript variant X14 XM_017004176.2:c.830= XM_017004176.2:c.830A>G
NAB1 transcript variant X13 XM_017004176.1:c.830= XM_017004176.1:c.830A>G
NAB1 transcript variant 2 NM_001321312.2:c.830= NM_001321312.2:c.830A>G
NAB1 transcript variant 2 NM_001321312.1:c.830= NM_001321312.1:c.830A>G
NAB1 transcript variant X10 XM_005246582.2:c.830= XM_005246582.2:c.830A>G
NAB1 transcript variant X4 XM_005246582.1:c.830= XM_005246582.1:c.830A>G
NAB1 transcript variant X12 XM_017004170.2:c.830= XM_017004170.2:c.830A>G
NAB1 transcript variant X5 XM_017004170.1:c.830= XM_017004170.1:c.830A>G
NAB1 transcript variant X1 XM_047444442.1:c.830= XM_047444442.1:c.830A>G
NAB1 transcript variant X16 XM_047444452.1:c.830= XM_047444452.1:c.830A>G
NAB1 transcript variant X15 XM_047444451.1:c.830= XM_047444451.1:c.830A>G
NAB1 transcript variant X34 XM_047444468.1:c.830= XM_047444468.1:c.830A>G
NAB1 transcript variant X17 XM_047444453.1:c.830= XM_047444453.1:c.830A>G
NAB1 transcript variant X18 XM_047444454.1:c.830= XM_047444454.1:c.830A>G
NAB1 transcript variant X19 XM_047444456.1:c.830= XM_047444456.1:c.830A>G
NAB1 transcript variant X33 XM_047444467.1:c.830= XM_047444467.1:c.830A>G
NAB1 transcript variant X2 XM_047444443.1:c.830= XM_047444443.1:c.830A>G
NAB1 transcript variant X21 XM_047444457.1:c.830= XM_047444457.1:c.830A>G
NAB1 transcript variant X35 XM_047444469.1:c.830= XM_047444469.1:c.830A>G
NAB1 transcript variant X43 XM_047444476.1:c.830= XM_047444476.1:c.830A>G
NAB1 transcript variant X25 XM_047444460.1:c.830= XM_047444460.1:c.830A>G
NAB1 transcript variant X8 XM_047444448.1:c.830= XM_047444448.1:c.830A>G
NAB1 transcript variant X26 XM_047444461.1:c.830= XM_047444461.1:c.830A>G
NAB1 transcript variant X7 XM_047444447.1:c.830= XM_047444447.1:c.830A>G
NAB1 transcript variant X3 XM_047444444.1:c.830= XM_047444444.1:c.830A>G
NAB1 transcript variant X5 XM_047444446.1:c.830= XM_047444446.1:c.830A>G
NAB1 transcript variant X24 XM_047444459.1:c.830= XM_047444459.1:c.830A>G
NAB1 transcript variant X4 XM_047444445.1:c.830= XM_047444445.1:c.830A>G
NAB1 transcript variant X22 XM_047444458.1:c.830= XM_047444458.1:c.830A>G
NAB1 transcript variant X37 XM_047444470.1:c.830= XM_047444470.1:c.830A>G
NAB1 transcript variant X38 XM_047444471.1:c.830= XM_047444471.1:c.830A>G
NAB1 transcript variant X32 XM_047444466.1:c.830= XM_047444466.1:c.830A>G
NAB1 transcript variant X39 XM_047444472.1:c.830= XM_047444472.1:c.830A>G
NAB1 transcript variant X30 XM_047444465.1:c.830= XM_047444465.1:c.830A>G
NAB1 transcript variant X13 XM_047444450.1:c.830= XM_047444450.1:c.830A>G
NAB1 transcript variant X11 XM_047444449.1:c.830= XM_047444449.1:c.830A>G
NAB1 transcript variant X28 XM_047444462.1:c.830= XM_047444462.1:c.830A>G
NAB1 transcript variant X29 XM_047444464.1:c.830= XM_047444464.1:c.830A>G
NAB1 transcript variant X40 XM_047444473.1:c.830= XM_047444473.1:c.830A>G
NAB1 transcript variant X41 XM_047444474.1:c.830= XM_047444474.1:c.830A>G
NAB1 transcript variant 3 NM_001321313.1:c.830= NM_001321313.1:c.830A>G
NAB1 transcript variant X31 XM_017004174.1:c.830= XM_017004174.1:c.830A>G
NAB1 transcript variant 4 NM_001321314.1:c.830= NM_001321314.1:c.830A>G
NAB1 transcript variant X42 XM_047444475.1:c.830= XM_047444475.1:c.830A>G
NAB1 transcript variant 5 NM_001321315.1:c.830= NM_001321315.1:c.830A>G
NGFI-A-binding protein 1 isoform 1 NP_005957.2:p.Asn277= NP_005957.2:p.Asn277Ser
NGFI-A-binding protein 1 isoform X1 XP_011509521.1:p.Asn277= XP_011509521.1:p.Asn277Ser
NGFI-A-binding protein 1 isoform X2 XP_016859661.1:p.Asn277= XP_016859661.1:p.Asn277Ser
NGFI-A-binding protein 1 isoform X3 XP_016859664.1:p.Asn277= XP_016859664.1:p.Asn277Ser
NGFI-A-binding protein 1 isoform X1 XP_005246640.1:p.Asn277= XP_005246640.1:p.Asn277Ser
NGFI-A-binding protein 1 isoform X1 XP_024308685.1:p.Asn277= XP_024308685.1:p.Asn277Ser
NGFI-A-binding protein 1 isoform X2 XP_016859662.1:p.Asn277= XP_016859662.1:p.Asn277Ser
NGFI-A-binding protein 1 isoform X1 XP_016859665.1:p.Asn277= XP_016859665.1:p.Asn277Ser
NGFI-A-binding protein 1 isoform 1 NP_001308241.1:p.Asn277= NP_001308241.1:p.Asn277Ser
NGFI-A-binding protein 1 isoform X1 XP_005246639.1:p.Asn277= XP_005246639.1:p.Asn277Ser
NGFI-A-binding protein 1 isoform X1 XP_016859659.1:p.Asn277= XP_016859659.1:p.Asn277Ser
NGFI-A-binding protein 1 isoform X1 XP_047300398.1:p.Asn277= XP_047300398.1:p.Asn277Ser
NGFI-A-binding protein 1 isoform X1 XP_047300408.1:p.Asn277= XP_047300408.1:p.Asn277Ser
NGFI-A-binding protein 1 isoform X1 XP_047300407.1:p.Asn277= XP_047300407.1:p.Asn277Ser
NGFI-A-binding protein 1 isoform X3 XP_047300424.1:p.Asn277= XP_047300424.1:p.Asn277Ser
NGFI-A-binding protein 1 isoform X1 XP_047300409.1:p.Asn277= XP_047300409.1:p.Asn277Ser
NGFI-A-binding protein 1 isoform X1 XP_047300410.1:p.Asn277= XP_047300410.1:p.Asn277Ser
NGFI-A-binding protein 1 isoform X1 XP_047300412.1:p.Asn277= XP_047300412.1:p.Asn277Ser
NGFI-A-binding protein 1 isoform X3 XP_047300423.1:p.Asn277= XP_047300423.1:p.Asn277Ser
NGFI-A-binding protein 1 isoform X1 XP_047300399.1:p.Asn277= XP_047300399.1:p.Asn277Ser
NGFI-A-binding protein 1 isoform X2 XP_047300413.1:p.Asn277= XP_047300413.1:p.Asn277Ser
NGFI-A-binding protein 1 isoform X3 XP_047300425.1:p.Asn277= XP_047300425.1:p.Asn277Ser
NGFI-A-binding protein 1 isoform X3 XP_047300432.1:p.Asn277= XP_047300432.1:p.Asn277Ser
NGFI-A-binding protein 1 isoform X2 XP_047300416.1:p.Asn277= XP_047300416.1:p.Asn277Ser
NGFI-A-binding protein 1 isoform X1 XP_047300404.1:p.Asn277= XP_047300404.1:p.Asn277Ser
NGFI-A-binding protein 1 isoform X2 XP_047300417.1:p.Asn277= XP_047300417.1:p.Asn277Ser
NGFI-A-binding protein 1 isoform X1 XP_047300403.1:p.Asn277= XP_047300403.1:p.Asn277Ser
NGFI-A-binding protein 1 isoform X1 XP_047300400.1:p.Asn277= XP_047300400.1:p.Asn277Ser
NGFI-A-binding protein 1 isoform X1 XP_047300402.1:p.Asn277= XP_047300402.1:p.Asn277Ser
NGFI-A-binding protein 1 isoform X2 XP_047300415.1:p.Asn277= XP_047300415.1:p.Asn277Ser
NGFI-A-binding protein 1 isoform X1 XP_047300401.1:p.Asn277= XP_047300401.1:p.Asn277Ser
NGFI-A-binding protein 1 isoform X2 XP_047300414.1:p.Asn277= XP_047300414.1:p.Asn277Ser
NGFI-A-binding protein 1 isoform X3 XP_047300426.1:p.Asn277= XP_047300426.1:p.Asn277Ser
NGFI-A-binding protein 1 isoform X3 XP_047300427.1:p.Asn277= XP_047300427.1:p.Asn277Ser
NGFI-A-binding protein 1 isoform X2 XP_047300422.1:p.Asn277= XP_047300422.1:p.Asn277Ser
NGFI-A-binding protein 1 isoform X3 XP_047300428.1:p.Asn277= XP_047300428.1:p.Asn277Ser
NGFI-A-binding protein 1 isoform X2 XP_047300421.1:p.Asn277= XP_047300421.1:p.Asn277Ser
NGFI-A-binding protein 1 isoform X1 XP_047300406.1:p.Asn277= XP_047300406.1:p.Asn277Ser
NGFI-A-binding protein 1 isoform X1 XP_047300405.1:p.Asn277= XP_047300405.1:p.Asn277Ser
NGFI-A-binding protein 1 isoform X2 XP_047300418.1:p.Asn277= XP_047300418.1:p.Asn277Ser
NGFI-A-binding protein 1 isoform X2 XP_047300420.1:p.Asn277= XP_047300420.1:p.Asn277Ser
NGFI-A-binding protein 1 isoform X3 XP_047300429.1:p.Asn277= XP_047300429.1:p.Asn277Ser
NGFI-A-binding protein 1 isoform X3 XP_047300430.1:p.Asn277= XP_047300430.1:p.Asn277Ser
NGFI-A-binding protein 1 isoform 1 NP_001308242.1:p.Asn277= NP_001308242.1:p.Asn277Ser
NGFI-A-binding protein 1 isoform X2 XP_016859663.1:p.Asn277= XP_016859663.1:p.Asn277Ser
NGFI-A-binding protein 1 isoform 2 NP_001308243.1:p.Asn277= NP_001308243.1:p.Asn277Ser
NGFI-A-binding protein 1 isoform X3 XP_047300431.1:p.Asn277= XP_047300431.1:p.Asn277Ser
NGFI-A-binding protein 1 isoform 3 NP_001308244.1:p.Asn277= NP_001308244.1:p.Asn277Ser
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#.

3 SubSNP, 3 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2746845115 Nov 08, 2017 (151)
2 GNOMAD ss2784305106 Nov 08, 2017 (151)
3 TOMMO_GENOMICS ss5686350506 Oct 13, 2022 (156)
4 gnomAD - Genomes NC_000002.12 - 190670336 Apr 26, 2021 (155)
5 14KJPN NC_000002.12 - 190670336 Oct 13, 2022 (156)
6 ALFA NC_000002.12 - 190670336 Apr 26, 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
ss2746845115, ss2784305106 NC_000002.11:191535061:A:G NC_000002.12:190670335:A:G (self)
85694347, 20187610, 11608268349, ss5686350506 NC_000002.12:190670335:A:G NC_000002.12:190670335:A:G (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1456117336

Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

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

Software version is: 2.0.1.post820+afb47a3d