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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.

rs1473918831

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr10:103094446 (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=0.000004 (1/250200, GnomAD_exome)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
NT5C2 : Missense Variant
Publications
0 citations
Genomic View
See rs on genome
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 - Exomes Global Study-wide 250200 A=0.999996 G=0.000004
gnomAD - Exomes European Sub 134632 A=0.999993 G=0.000007
gnomAD - Exomes Asian Sub 48804 A=1.00000 G=0.00000
gnomAD - Exomes American Sub 34432 A=1.00000 G=0.00000
gnomAD - Exomes African Sub 16188 A=1.00000 G=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10028 A=1.00000 G=0.00000
gnomAD - Exomes Other Sub 6116 A=1.0000 G=0.0000
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 10 NC_000010.11:g.103094446A>G
GRCh37.p13 chr 10 NC_000010.10:g.104854203A>G
NT5C2 RefSeqGene NG_042272.1:g.103861T>C
Gene: NT5C2, 5'-nucleotidase, cytosolic II (minus strand)
Molecule type Change Amino acid[Codon] SO Term
NT5C2 transcript variant 8 NM_001351174.1:c.736T>C S [TCC] > P [CCC] Coding Sequence Variant
cytosolic purine 5'-nucleotidase isoform 3 NP_001338103.1:p.Ser246Pro S (Ser) > P (Pro) Missense Variant
NT5C2 transcript variant 25 NM_001351191.1:c.250T>C S [TCC] > P [CCC] Coding Sequence Variant
cytosolic purine 5'-nucleotidase isoform 5 NP_001338120.1:p.Ser84Pro S (Ser) > P (Pro) Missense Variant
NT5C2 transcript variant 26 NM_001351192.1:c.250T>C S [TCC] > P [CCC] Coding Sequence Variant
cytosolic purine 5'-nucleotidase isoform 5 NP_001338121.1:p.Ser84Pro S (Ser) > P (Pro) Missense Variant
NT5C2 transcript variant 27 NM_001351193.1:c.250T>C S [TCC] > P [CCC] Coding Sequence Variant
cytosolic purine 5'-nucleotidase isoform 5 NP_001338122.1:p.Ser84Pro S (Ser) > P (Pro) Missense Variant
NT5C2 transcript variant 2 NM_001134373.3:c.823T>C S [TCC] > P [CCC] Coding Sequence Variant
cytosolic purine 5'-nucleotidase isoform 1 NP_001127845.1:p.Ser275Pro S (Ser) > P (Pro) Missense Variant
NT5C2 transcript variant 3 NM_001351169.2:c.823T>C S [TCC] > P [CCC] Coding Sequence Variant
cytosolic purine 5'-nucleotidase isoform 1 NP_001338098.1:p.Ser275Pro S (Ser) > P (Pro) Missense Variant
NT5C2 transcript variant 28 NM_001351194.2:c.109T>C S [TCC] > P [CCC] Coding Sequence Variant
cytosolic purine 5'-nucleotidase isoform 6 NP_001338123.1:p.Ser37Pro S (Ser) > P (Pro) Missense Variant
NT5C2 transcript variant 9 NM_001351175.2:c.730T>C S [TCC] > P [CCC] Coding Sequence Variant
cytosolic purine 5'-nucleotidase isoform 4 NP_001338104.1:p.Ser244Pro S (Ser) > P (Pro) Missense Variant
NT5C2 transcript variant 14 NM_001351180.2:c.250T>C S [TCC] > P [CCC] Coding Sequence Variant
cytosolic purine 5'-nucleotidase isoform 5 NP_001338109.1:p.Ser84Pro S (Ser) > P (Pro) Missense Variant
NT5C2 transcript variant 4 NM_001351170.2:c.847T>C S [TCC] > P [CCC] Coding Sequence Variant
cytosolic purine 5'-nucleotidase isoform 2 NP_001338099.1:p.Ser283Pro S (Ser) > P (Pro) Missense Variant
NT5C2 transcript variant 23 NM_001351189.2:c.250T>C S [TCC] > P [CCC] Coding Sequence Variant
cytosolic purine 5'-nucleotidase isoform 5 NP_001338118.1:p.Ser84Pro S (Ser) > P (Pro) Missense Variant
NT5C2 transcript variant 1 NM_012229.5:c.823T>C S [TCC] > P [CCC] Coding Sequence Variant
cytosolic purine 5'-nucleotidase isoform 1 NP_036361.1:p.Ser275Pro S (Ser) > P (Pro) Missense Variant
NT5C2 transcript variant 29 NM_001351195.2:c.109T>C S [TCC] > P [CCC] Coding Sequence Variant
cytosolic purine 5'-nucleotidase isoform 6 NP_001338124.1:p.Ser37Pro S (Ser) > P (Pro) Missense Variant
NT5C2 transcript variant 17 NM_001351183.2:c.250T>C S [TCC] > P [CCC] Coding Sequence Variant
cytosolic purine 5'-nucleotidase isoform 5 NP_001338112.1:p.Ser84Pro S (Ser) > P (Pro) Missense Variant
NT5C2 transcript variant 24 NM_001351190.2:c.250T>C S [TCC] > P [CCC] Coding Sequence Variant
cytosolic purine 5'-nucleotidase isoform 5 NP_001338119.1:p.Ser84Pro S (Ser) > P (Pro) Missense Variant
NT5C2 transcript variant 10 NM_001351176.2:c.250T>C S [TCC] > P [CCC] Coding Sequence Variant
cytosolic purine 5'-nucleotidase isoform 5 NP_001338105.1:p.Ser84Pro S (Ser) > P (Pro) Missense Variant
NT5C2 transcript variant 16 NM_001351182.2:c.250T>C S [TCC] > P [CCC] Coding Sequence Variant
cytosolic purine 5'-nucleotidase isoform 5 NP_001338111.1:p.Ser84Pro S (Ser) > P (Pro) Missense Variant
NT5C2 transcript variant 20 NM_001351186.2:c.250T>C S [TCC] > P [CCC] Coding Sequence Variant
cytosolic purine 5'-nucleotidase isoform 5 NP_001338115.1:p.Ser84Pro S (Ser) > P (Pro) Missense Variant
NT5C2 transcript variant 30 NM_001351196.2:c.109T>C S [TCC] > P [CCC] Coding Sequence Variant
cytosolic purine 5'-nucleotidase isoform 6 NP_001338125.1:p.Ser37Pro S (Ser) > P (Pro) Missense Variant
NT5C2 transcript variant 12 NM_001351178.2:c.250T>C S [TCC] > P [CCC] Coding Sequence Variant
cytosolic purine 5'-nucleotidase isoform 5 NP_001338107.1:p.Ser84Pro S (Ser) > P (Pro) Missense Variant
NT5C2 transcript variant 11 NM_001351177.2:c.250T>C S [TCC] > P [CCC] Coding Sequence Variant
cytosolic purine 5'-nucleotidase isoform 5 NP_001338106.1:p.Ser84Pro S (Ser) > P (Pro) Missense Variant
NT5C2 transcript variant 21 NM_001351187.2:c.250T>C S [TCC] > P [CCC] Coding Sequence Variant
cytosolic purine 5'-nucleotidase isoform 5 NP_001338116.1:p.Ser84Pro S (Ser) > P (Pro) Missense Variant
NT5C2 transcript variant 15 NM_001351181.2:c.250T>C S [TCC] > P [CCC] Coding Sequence Variant
cytosolic purine 5'-nucleotidase isoform 5 NP_001338110.1:p.Ser84Pro S (Ser) > P (Pro) Missense Variant
NT5C2 transcript variant 22 NM_001351188.2:c.250T>C S [TCC] > P [CCC] Coding Sequence Variant
cytosolic purine 5'-nucleotidase isoform 5 NP_001338117.1:p.Ser84Pro S (Ser) > P (Pro) Missense Variant
NT5C2 transcript variant 7 NM_001351173.2:c.847T>C S [TCC] > P [CCC] Coding Sequence Variant
cytosolic purine 5'-nucleotidase isoform 2 NP_001338102.1:p.Ser283Pro S (Ser) > P (Pro) Missense Variant
NT5C2 transcript variant 18 NM_001351184.2:c.250T>C S [TCC] > P [CCC] Coding Sequence Variant
cytosolic purine 5'-nucleotidase isoform 5 NP_001338113.1:p.Ser84Pro S (Ser) > P (Pro) Missense Variant
NT5C2 transcript variant 31 NM_001351197.2:c.250T>C S [TCC] > P [CCC] Coding Sequence Variant
cytosolic purine 5'-nucleotidase isoform 5 NP_001338126.1:p.Ser84Pro S (Ser) > P (Pro) Missense Variant
NT5C2 transcript variant 5 NM_001351171.2:c.847T>C S [TCC] > P [CCC] Coding Sequence Variant
cytosolic purine 5'-nucleotidase isoform 2 NP_001338100.1:p.Ser283Pro S (Ser) > P (Pro) Missense Variant
NT5C2 transcript variant 6 NM_001351172.2:c.847T>C S [TCC] > P [CCC] Coding Sequence Variant
cytosolic purine 5'-nucleotidase isoform 2 NP_001338101.1:p.Ser283Pro S (Ser) > P (Pro) Missense Variant
NT5C2 transcript variant 19 NM_001351185.2:c.250T>C S [TCC] > P [CCC] Coding Sequence Variant
cytosolic purine 5'-nucleotidase isoform 5 NP_001338114.1:p.Ser84Pro S (Ser) > P (Pro) Missense Variant
NT5C2 transcript variant 13 NM_001351179.2:c.250T>C S [TCC] > P [CCC] Coding Sequence Variant
cytosolic purine 5'-nucleotidase isoform 5 NP_001338108.1:p.Ser84Pro S (Ser) > P (Pro) Missense Variant
NT5C2 transcript variant X14 XM_011539537.2:c.847T>C S [TCC] > P [CCC] Coding Sequence Variant
cytosolic purine 5'-nucleotidase isoform X7 XP_011537839.1:p.Ser283Pro S (Ser) > P (Pro) Missense Variant
NT5C2 transcript variant X1 XM_047424844.1:c.847T>C S [TCC] > P [CCC] Coding Sequence Variant
cytosolic purine 5'-nucleotidase isoform X1 XP_047280800.1:p.Ser283Pro S (Ser) > P (Pro) Missense Variant
NT5C2 transcript variant X2 XM_024447901.2:c.847T>C S [TCC] > P [CCC] Coding Sequence Variant
cytosolic purine 5'-nucleotidase isoform X1 XP_024303669.1:p.Ser283Pro S (Ser) > P (Pro) Missense Variant
NT5C2 transcript variant X3 XM_047424845.1:c.847T>C S [TCC] > P [CCC] Coding Sequence Variant
cytosolic purine 5'-nucleotidase isoform X1 XP_047280801.1:p.Ser283Pro S (Ser) > P (Pro) Missense Variant
NT5C2 transcript variant X4 XM_047424846.1:c.847T>C S [TCC] > P [CCC] Coding Sequence Variant
cytosolic purine 5'-nucleotidase isoform X1 XP_047280802.1:p.Ser283Pro S (Ser) > P (Pro) Missense Variant
NT5C2 transcript variant X5 XM_024447902.2:c.823T>C S [TCC] > P [CCC] Coding Sequence Variant
cytosolic purine 5'-nucleotidase isoform X2 XP_024303670.1:p.Ser275Pro S (Ser) > P (Pro) Missense Variant
NT5C2 transcript variant X6 XM_047424847.1:c.823T>C S [TCC] > P [CCC] Coding Sequence Variant
cytosolic purine 5'-nucleotidase isoform X2 XP_047280803.1:p.Ser275Pro S (Ser) > P (Pro) Missense Variant
NT5C2 transcript variant X7 XM_047424848.1:c.823T>C S [TCC] > P [CCC] Coding Sequence Variant
cytosolic purine 5'-nucleotidase isoform X2 XP_047280804.1:p.Ser275Pro S (Ser) > P (Pro) Missense Variant
NT5C2 transcript variant X8 XM_047424849.1:c.823T>C S [TCC] > P [CCC] Coding Sequence Variant
cytosolic purine 5'-nucleotidase isoform X2 XP_047280805.1:p.Ser275Pro S (Ser) > P (Pro) Missense Variant
NT5C2 transcript variant X9 XM_047424850.1:c.823T>C S [TCC] > P [CCC] Coding Sequence Variant
cytosolic purine 5'-nucleotidase isoform X2 XP_047280806.1:p.Ser275Pro S (Ser) > P (Pro) Missense Variant
NT5C2 transcript variant X10 XM_005269637.6:c.760T>C S [TCC] > P [CCC] Coding Sequence Variant
cytosolic purine 5'-nucleotidase isoform X3 XP_005269694.1:p.Ser254Pro S (Ser) > P (Pro) Missense Variant
NT5C2 transcript variant X11 XM_017015947.3:c.754T>C S [TCC] > P [CCC] Coding Sequence Variant
cytosolic purine 5'-nucleotidase isoform X4 XP_016871436.1:p.Ser252Pro S (Ser) > P (Pro) Missense Variant
NT5C2 transcript variant X12 XM_047424851.1:c.751T>C S [TCC] > P [CCC] Coding Sequence Variant
cytosolic purine 5'-nucleotidase isoform X5 XP_047280807.1:p.Ser251Pro S (Ser) > P (Pro) Missense Variant
NT5C2 transcript variant X13 XM_024447903.2:c.715T>C S [TCC] > P [CCC] Coding Sequence Variant
cytosolic purine 5'-nucleotidase isoform X6 XP_024303671.1:p.Ser239Pro S (Ser) > P (Pro) Missense Variant
NT5C2 transcript variant X15 XM_047424852.1:c.847T>C S [TCC] > P [CCC] Coding Sequence Variant
cytosolic purine 5'-nucleotidase isoform X7 XP_047280808.1:p.Ser283Pro S (Ser) > P (Pro) Missense Variant
NT5C2 transcript variant X16 XM_047424853.1:c.847T>C S [TCC] > P [CCC] Coding Sequence Variant
cytosolic purine 5'-nucleotidase isoform X7 XP_047280809.1:p.Ser283Pro S (Ser) > P (Pro) Missense Variant
NT5C2 transcript variant X17 XM_047424854.1:c.823T>C S [TCC] > P [CCC] Coding Sequence Variant
cytosolic purine 5'-nucleotidase isoform X8 XP_047280810.1:p.Ser275Pro S (Ser) > P (Pro) Missense Variant
NT5C2 transcript variant X18 XM_047424855.1:c.823T>C S [TCC] > P [CCC] Coding Sequence Variant
cytosolic purine 5'-nucleotidase isoform X8 XP_047280811.1:p.Ser275Pro S (Ser) > P (Pro) Missense Variant
NT5C2 transcript variant X19 XM_047424856.1:c.823T>C S [TCC] > P [CCC] Coding Sequence Variant
cytosolic purine 5'-nucleotidase isoform X8 XP_047280812.1:p.Ser275Pro S (Ser) > P (Pro) Missense Variant
NT5C2 transcript variant X20 XM_047424857.1:c.250T>C S [TCC] > P [CCC] Coding Sequence Variant
cytosolic purine 5'-nucleotidase isoform X9 XP_047280813.1:p.Ser84Pro S (Ser) > P (Pro) Missense Variant
NT5C2 transcript variant X21 XM_047424858.1:c.250T>C S [TCC] > P [CCC] Coding Sequence Variant
cytosolic purine 5'-nucleotidase isoform X9 XP_047280814.1:p.Ser84Pro S (Ser) > P (Pro) Missense Variant
NT5C2 transcript variant X22 XM_047424859.1:c.250T>C S [TCC] > P [CCC] Coding Sequence Variant
cytosolic purine 5'-nucleotidase isoform X9 XP_047280815.1:p.Ser84Pro S (Ser) > P (Pro) 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 10 NC_000010.11:g.103094446= NC_000010.11:g.103094446A>G
GRCh37.p13 chr 10 NC_000010.10:g.104854203= NC_000010.10:g.104854203A>G
NT5C2 RefSeqGene NG_042272.1:g.103861= NG_042272.1:g.103861T>C
NT5C2 transcript variant 1 NM_012229.4:c.823= NM_012229.4:c.823T>C
NT5C2 transcript variant 1 NM_012229.5:c.823= NM_012229.5:c.823T>C
NT5C2 transcript variant 2 NM_001134373.2:c.823= NM_001134373.2:c.823T>C
NT5C2 transcript variant 2 NM_001134373.3:c.823= NM_001134373.3:c.823T>C
NT5C2 transcript variant 13 NM_001351179.1:c.250= NM_001351179.1:c.250T>C
NT5C2 transcript variant 13 NM_001351179.2:c.250= NM_001351179.2:c.250T>C
NT5C2 transcript variant 23 NM_001351189.1:c.250= NM_001351189.1:c.250T>C
NT5C2 transcript variant 23 NM_001351189.2:c.250= NM_001351189.2:c.250T>C
NT5C2 transcript variant 24 NM_001351190.1:c.250= NM_001351190.1:c.250T>C
NT5C2 transcript variant 24 NM_001351190.2:c.250= NM_001351190.2:c.250T>C
NT5C2 transcript variant 7 NM_001351173.1:c.847= NM_001351173.1:c.847T>C
NT5C2 transcript variant 7 NM_001351173.2:c.847= NM_001351173.2:c.847T>C
NT5C2 transcript variant 27 NM_001351193.1:c.250= NM_001351193.1:c.250T>C
NT5C2 transcript variant 26 NM_001351192.1:c.250= NM_001351192.1:c.250T>C
NT5C2 transcript variant 21 NM_001351187.1:c.250= NM_001351187.1:c.250T>C
NT5C2 transcript variant 21 NM_001351187.2:c.250= NM_001351187.2:c.250T>C
NT5C2 transcript variant 8 NM_001351174.1:c.736= NM_001351174.1:c.736T>C
NT5C2 transcript variant 25 NM_001351191.1:c.250= NM_001351191.1:c.250T>C
NT5C2 transcript variant 20 NM_001351186.1:c.250= NM_001351186.1:c.250T>C
NT5C2 transcript variant 20 NM_001351186.2:c.250= NM_001351186.2:c.250T>C
NT5C2 transcript variant 9 NM_001351175.1:c.730= NM_001351175.1:c.730T>C
NT5C2 transcript variant 9 NM_001351175.2:c.730= NM_001351175.2:c.730T>C
NT5C2 transcript variant 16 NM_001351182.1:c.250= NM_001351182.1:c.250T>C
NT5C2 transcript variant 16 NM_001351182.2:c.250= NM_001351182.2:c.250T>C
NT5C2 transcript variant 19 NM_001351185.1:c.250= NM_001351185.1:c.250T>C
NT5C2 transcript variant 19 NM_001351185.2:c.250= NM_001351185.2:c.250T>C
NT5C2 transcript variant 18 NM_001351184.1:c.250= NM_001351184.1:c.250T>C
NT5C2 transcript variant 18 NM_001351184.2:c.250= NM_001351184.2:c.250T>C
NT5C2 transcript variant 12 NM_001351178.1:c.250= NM_001351178.1:c.250T>C
NT5C2 transcript variant 12 NM_001351178.2:c.250= NM_001351178.2:c.250T>C
NT5C2 transcript variant 22 NM_001351188.1:c.250= NM_001351188.1:c.250T>C
NT5C2 transcript variant 22 NM_001351188.2:c.250= NM_001351188.2:c.250T>C
NT5C2 transcript variant 6 NM_001351172.1:c.847= NM_001351172.1:c.847T>C
NT5C2 transcript variant 6 NM_001351172.2:c.847= NM_001351172.2:c.847T>C
NT5C2 transcript variant 31 NM_001351197.1:c.250= NM_001351197.1:c.250T>C
NT5C2 transcript variant 31 NM_001351197.2:c.250= NM_001351197.2:c.250T>C
NT5C2 transcript variant 3 NM_001351169.1:c.823= NM_001351169.1:c.823T>C
NT5C2 transcript variant 3 NM_001351169.2:c.823= NM_001351169.2:c.823T>C
NT5C2 transcript variant 30 NM_001351196.1:c.109= NM_001351196.1:c.109T>C
NT5C2 transcript variant 30 NM_001351196.2:c.109= NM_001351196.2:c.109T>C
NT5C2 transcript variant 5 NM_001351171.1:c.847= NM_001351171.1:c.847T>C
NT5C2 transcript variant 5 NM_001351171.2:c.847= NM_001351171.2:c.847T>C
NT5C2 transcript variant 14 NM_001351180.1:c.250= NM_001351180.1:c.250T>C
NT5C2 transcript variant 14 NM_001351180.2:c.250= NM_001351180.2:c.250T>C
NT5C2 transcript variant 29 NM_001351195.1:c.109= NM_001351195.1:c.109T>C
NT5C2 transcript variant 29 NM_001351195.2:c.109= NM_001351195.2:c.109T>C
NT5C2 transcript variant 11 NM_001351177.1:c.250= NM_001351177.1:c.250T>C
NT5C2 transcript variant 11 NM_001351177.2:c.250= NM_001351177.2:c.250T>C
NT5C2 transcript variant 4 NM_001351170.1:c.847= NM_001351170.1:c.847T>C
NT5C2 transcript variant 4 NM_001351170.2:c.847= NM_001351170.2:c.847T>C
NT5C2 transcript variant 10 NM_001351176.1:c.250= NM_001351176.1:c.250T>C
NT5C2 transcript variant 10 NM_001351176.2:c.250= NM_001351176.2:c.250T>C
NT5C2 transcript variant 28 NM_001351194.1:c.109= NM_001351194.1:c.109T>C
NT5C2 transcript variant 28 NM_001351194.2:c.109= NM_001351194.2:c.109T>C
NT5C2 transcript variant 17 NM_001351183.1:c.250= NM_001351183.1:c.250T>C
NT5C2 transcript variant 17 NM_001351183.2:c.250= NM_001351183.2:c.250T>C
NT5C2 transcript variant 15 NM_001351181.1:c.250= NM_001351181.1:c.250T>C
NT5C2 transcript variant 15 NM_001351181.2:c.250= NM_001351181.2:c.250T>C
NT5C2 transcript variant X10 XM_005269637.6:c.760= XM_005269637.6:c.760T>C
NT5C2 transcript variant X3 XM_005269637.5:c.760= XM_005269637.5:c.760T>C
NT5C2 transcript variant X6 XM_005269637.4:c.760= XM_005269637.4:c.760T>C
NT5C2 transcript variant X8 XM_005269637.3:c.760= XM_005269637.3:c.760T>C
NT5C2 transcript variant X6 XM_005269637.2:c.760= XM_005269637.2:c.760T>C
NT5C2 transcript variant X6 XM_005269637.1:c.760= XM_005269637.1:c.760T>C
NT5C2 transcript variant X11 XM_017015947.3:c.754= XM_017015947.3:c.754T>C
NT5C2 transcript variant X4 XM_017015947.2:c.754= XM_017015947.2:c.754T>C
NT5C2 transcript variant X7 XM_017015947.1:c.754= XM_017015947.1:c.754T>C
NT5C2 transcript variant X2 XM_024447901.2:c.847= XM_024447901.2:c.847T>C
NT5C2 transcript variant X1 XM_024447901.1:c.847= XM_024447901.1:c.847T>C
NT5C2 transcript variant X5 XM_024447902.2:c.823= XM_024447902.2:c.823T>C
NT5C2 transcript variant X2 XM_024447902.1:c.823= XM_024447902.1:c.823T>C
NT5C2 transcript variant X14 XM_011539537.2:c.847= XM_011539537.2:c.847T>C
NT5C2 transcript variant X12 XM_011539537.1:c.847= XM_011539537.1:c.847T>C
NT5C2 transcript variant X13 XM_024447903.2:c.715= XM_024447903.2:c.715T>C
NT5C2 transcript variant X5 XM_024447903.1:c.715= XM_024447903.1:c.715T>C
NT5C2 transcript variant X20 XM_047424857.1:c.250= XM_047424857.1:c.250T>C
NT5C2 transcript variant X12 XM_047424851.1:c.751= XM_047424851.1:c.751T>C
NT5C2 transcript variant X1 XM_047424844.1:c.847= XM_047424844.1:c.847T>C
NT5C2 transcript variant X8 XM_047424849.1:c.823= XM_047424849.1:c.823T>C
NT5C2 transcript variant X6 XM_047424847.1:c.823= XM_047424847.1:c.823T>C
NT5C2 transcript variant X3 XM_047424845.1:c.847= XM_047424845.1:c.847T>C
NT5C2 transcript variant X7 XM_047424848.1:c.823= XM_047424848.1:c.823T>C
NT5C2 transcript variant X4 XM_047424846.1:c.847= XM_047424846.1:c.847T>C
NT5C2 transcript variant X9 XM_047424850.1:c.823= XM_047424850.1:c.823T>C
NT5C2 transcript variant X18 XM_047424855.1:c.823= XM_047424855.1:c.823T>C
NT5C2 transcript variant X16 XM_047424853.1:c.847= XM_047424853.1:c.847T>C
NT5C2 transcript variant X19 XM_047424856.1:c.823= XM_047424856.1:c.823T>C
NT5C2 transcript variant X15 XM_047424852.1:c.847= XM_047424852.1:c.847T>C
NT5C2 transcript variant X17 XM_047424854.1:c.823= XM_047424854.1:c.823T>C
NT5C2 transcript variant X21 XM_047424858.1:c.250= XM_047424858.1:c.250T>C
NT5C2 transcript variant X22 XM_047424859.1:c.250= XM_047424859.1:c.250T>C
cytosolic purine 5'-nucleotidase isoform 1 NP_036361.1:p.Ser275= NP_036361.1:p.Ser275Pro
cytosolic purine 5'-nucleotidase isoform 1 NP_001127845.1:p.Ser275= NP_001127845.1:p.Ser275Pro
cytosolic purine 5'-nucleotidase isoform 5 NP_001338108.1:p.Ser84= NP_001338108.1:p.Ser84Pro
cytosolic purine 5'-nucleotidase isoform 5 NP_001338118.1:p.Ser84= NP_001338118.1:p.Ser84Pro
cytosolic purine 5'-nucleotidase isoform 5 NP_001338119.1:p.Ser84= NP_001338119.1:p.Ser84Pro
cytosolic purine 5'-nucleotidase isoform 2 NP_001338102.1:p.Ser283= NP_001338102.1:p.Ser283Pro
cytosolic purine 5'-nucleotidase isoform 5 NP_001338122.1:p.Ser84= NP_001338122.1:p.Ser84Pro
cytosolic purine 5'-nucleotidase isoform 5 NP_001338121.1:p.Ser84= NP_001338121.1:p.Ser84Pro
cytosolic purine 5'-nucleotidase isoform 5 NP_001338116.1:p.Ser84= NP_001338116.1:p.Ser84Pro
cytosolic purine 5'-nucleotidase isoform 3 NP_001338103.1:p.Ser246= NP_001338103.1:p.Ser246Pro
cytosolic purine 5'-nucleotidase isoform 5 NP_001338120.1:p.Ser84= NP_001338120.1:p.Ser84Pro
cytosolic purine 5'-nucleotidase isoform 5 NP_001338115.1:p.Ser84= NP_001338115.1:p.Ser84Pro
cytosolic purine 5'-nucleotidase isoform 4 NP_001338104.1:p.Ser244= NP_001338104.1:p.Ser244Pro
cytosolic purine 5'-nucleotidase isoform 5 NP_001338111.1:p.Ser84= NP_001338111.1:p.Ser84Pro
cytosolic purine 5'-nucleotidase isoform 5 NP_001338114.1:p.Ser84= NP_001338114.1:p.Ser84Pro
cytosolic purine 5'-nucleotidase isoform 5 NP_001338113.1:p.Ser84= NP_001338113.1:p.Ser84Pro
cytosolic purine 5'-nucleotidase isoform 5 NP_001338107.1:p.Ser84= NP_001338107.1:p.Ser84Pro
cytosolic purine 5'-nucleotidase isoform 5 NP_001338117.1:p.Ser84= NP_001338117.1:p.Ser84Pro
cytosolic purine 5'-nucleotidase isoform 2 NP_001338101.1:p.Ser283= NP_001338101.1:p.Ser283Pro
cytosolic purine 5'-nucleotidase isoform 5 NP_001338126.1:p.Ser84= NP_001338126.1:p.Ser84Pro
cytosolic purine 5'-nucleotidase isoform 1 NP_001338098.1:p.Ser275= NP_001338098.1:p.Ser275Pro
cytosolic purine 5'-nucleotidase isoform 6 NP_001338125.1:p.Ser37= NP_001338125.1:p.Ser37Pro
cytosolic purine 5'-nucleotidase isoform 2 NP_001338100.1:p.Ser283= NP_001338100.1:p.Ser283Pro
cytosolic purine 5'-nucleotidase isoform 5 NP_001338109.1:p.Ser84= NP_001338109.1:p.Ser84Pro
cytosolic purine 5'-nucleotidase isoform 6 NP_001338124.1:p.Ser37= NP_001338124.1:p.Ser37Pro
cytosolic purine 5'-nucleotidase isoform 5 NP_001338106.1:p.Ser84= NP_001338106.1:p.Ser84Pro
cytosolic purine 5'-nucleotidase isoform 2 NP_001338099.1:p.Ser283= NP_001338099.1:p.Ser283Pro
cytosolic purine 5'-nucleotidase isoform 5 NP_001338105.1:p.Ser84= NP_001338105.1:p.Ser84Pro
cytosolic purine 5'-nucleotidase isoform 6 NP_001338123.1:p.Ser37= NP_001338123.1:p.Ser37Pro
cytosolic purine 5'-nucleotidase isoform 5 NP_001338112.1:p.Ser84= NP_001338112.1:p.Ser84Pro
cytosolic purine 5'-nucleotidase isoform 5 NP_001338110.1:p.Ser84= NP_001338110.1:p.Ser84Pro
cytosolic purine 5'-nucleotidase isoform X3 XP_005269694.1:p.Ser254= XP_005269694.1:p.Ser254Pro
cytosolic purine 5'-nucleotidase isoform X4 XP_016871436.1:p.Ser252= XP_016871436.1:p.Ser252Pro
cytosolic purine 5'-nucleotidase isoform X1 XP_024303669.1:p.Ser283= XP_024303669.1:p.Ser283Pro
cytosolic purine 5'-nucleotidase isoform X2 XP_024303670.1:p.Ser275= XP_024303670.1:p.Ser275Pro
cytosolic purine 5'-nucleotidase isoform X7 XP_011537839.1:p.Ser283= XP_011537839.1:p.Ser283Pro
cytosolic purine 5'-nucleotidase isoform X6 XP_024303671.1:p.Ser239= XP_024303671.1:p.Ser239Pro
cytosolic purine 5'-nucleotidase isoform X9 XP_047280813.1:p.Ser84= XP_047280813.1:p.Ser84Pro
cytosolic purine 5'-nucleotidase isoform X5 XP_047280807.1:p.Ser251= XP_047280807.1:p.Ser251Pro
cytosolic purine 5'-nucleotidase isoform X1 XP_047280800.1:p.Ser283= XP_047280800.1:p.Ser283Pro
cytosolic purine 5'-nucleotidase isoform X2 XP_047280805.1:p.Ser275= XP_047280805.1:p.Ser275Pro
cytosolic purine 5'-nucleotidase isoform X2 XP_047280803.1:p.Ser275= XP_047280803.1:p.Ser275Pro
cytosolic purine 5'-nucleotidase isoform X1 XP_047280801.1:p.Ser283= XP_047280801.1:p.Ser283Pro
cytosolic purine 5'-nucleotidase isoform X2 XP_047280804.1:p.Ser275= XP_047280804.1:p.Ser275Pro
cytosolic purine 5'-nucleotidase isoform X1 XP_047280802.1:p.Ser283= XP_047280802.1:p.Ser283Pro
cytosolic purine 5'-nucleotidase isoform X2 XP_047280806.1:p.Ser275= XP_047280806.1:p.Ser275Pro
cytosolic purine 5'-nucleotidase isoform X8 XP_047280811.1:p.Ser275= XP_047280811.1:p.Ser275Pro
cytosolic purine 5'-nucleotidase isoform X7 XP_047280809.1:p.Ser283= XP_047280809.1:p.Ser283Pro
cytosolic purine 5'-nucleotidase isoform X8 XP_047280812.1:p.Ser275= XP_047280812.1:p.Ser275Pro
cytosolic purine 5'-nucleotidase isoform X7 XP_047280808.1:p.Ser283= XP_047280808.1:p.Ser283Pro
cytosolic purine 5'-nucleotidase isoform X8 XP_047280810.1:p.Ser275= XP_047280810.1:p.Ser275Pro
cytosolic purine 5'-nucleotidase isoform X9 XP_047280814.1:p.Ser84= XP_047280814.1:p.Ser84Pro
cytosolic purine 5'-nucleotidase isoform X9 XP_047280815.1:p.Ser84= XP_047280815.1:p.Ser84Pro
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#.

1 SubSNP, 1 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2738500597 Nov 08, 2017 (151)
2 gnomAD - Exomes NC_000010.10 - 104854203 Jul 13, 2019 (153)
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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
7702402, ss2738500597 NC_000010.10:104854202:A:G NC_000010.11:103094445: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 rs1473918831

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