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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.

rs1472421183

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr9:72225680 (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
C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000004 (1/264690, TOPMED)
T=0.00000 (0/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
GDA : 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 14050 C=1.00000 T=0.00000 1.0 0.0 0.0 N/A
European Sub 9690 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
African Sub 2898 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
African Others Sub 114 C=1.000 T=0.000 1.0 0.0 0.0 N/A
African American Sub 2784 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
Asian Sub 112 C=1.000 T=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 C=1.00 T=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 C=1.00 T=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 C=1.000 T=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 C=1.000 T=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 C=1.00 T=0.00 1.0 0.0 0.0 N/A
Other Sub 496 C=1.000 T=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
TopMed Global Study-wide 264690 C=0.999996 T=0.000004
Allele Frequency Aggregator Total Global 14050 C=1.00000 T=0.00000
Allele Frequency Aggregator European Sub 9690 C=1.0000 T=0.0000
Allele Frequency Aggregator African Sub 2898 C=1.0000 T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 T=0.000
Allele Frequency Aggregator Other Sub 496 C=1.000 T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 T=0.000
Allele Frequency Aggregator Asian Sub 112 C=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 T=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 9 NC_000009.12:g.72225680C>T
GRCh37.p13 chr 9 NC_000009.11:g.74840596C>T
GDA RefSeqGene NG_030562.1:g.116086C>T
Gene: GDA, guanine deaminase (plus strand)
Molecule type Change Amino acid[Codon] SO Term
GDA transcript variant 5 NM_001351571.2:c.592C>T H [CAT] > Y [TAT] Coding Sequence Variant
guanine deaminase isoform d NP_001338500.1:p.His198Tyr H (His) > Y (Tyr) Missense Variant
GDA transcript variant 2 NM_004293.5:c.718C>T H [CAT] > Y [TAT] Coding Sequence Variant
guanine deaminase isoform b NP_004284.1:p.His240Tyr H (His) > Y (Tyr) Missense Variant
GDA transcript variant 7 NM_001351573.2:c.718C>T H [CAT] > Y [TAT] Coding Sequence Variant
guanine deaminase isoform e NP_001338502.1:p.His240Tyr H (His) > Y (Tyr) Missense Variant
GDA transcript variant 6 NM_001351572.2:c.718C>T H [CAT] > Y [TAT] Coding Sequence Variant
guanine deaminase isoform a NP_001338501.1:p.His240Tyr H (His) > Y (Tyr) Missense Variant
GDA transcript variant 3 NM_001242506.3:c.496C>T H [CAT] > Y [TAT] Coding Sequence Variant
guanine deaminase isoform c NP_001229435.1:p.His166Tyr H (His) > Y (Tyr) Missense Variant
GDA transcript variant 1 NM_001242505.3:c.718C>T H [CAT] > Y [TAT] Coding Sequence Variant
guanine deaminase isoform a NP_001229434.1:p.His240Tyr H (His) > Y (Tyr) Missense Variant
GDA transcript variant 4 NM_001242507.3:c.496C>T H [CAT] > Y [TAT] Coding Sequence Variant
guanine deaminase isoform c NP_001229436.1:p.His166Tyr H (His) > Y (Tyr) Missense Variant
GDA transcript variant 8 NR_147240.2:n.838C>T N/A Non Coding Transcript Variant
GDA transcript variant X30 XM_011519223.2:c.208C>T H [CAT] > Y [TAT] Coding Sequence Variant
guanine deaminase isoform X13 XP_011517525.1:p.His70Tyr H (His) > Y (Tyr) Missense Variant
GDA transcript variant X31 XM_017015340.2:c.208C>T H [CAT] > Y [TAT] Coding Sequence Variant
guanine deaminase isoform X13 XP_016870829.1:p.His70Tyr H (His) > Y (Tyr) Missense Variant
GDA transcript variant X1 XM_011519222.3:c.832C>T H [CAT] > Y [TAT] Coding Sequence Variant
guanine deaminase isoform X1 XP_011517524.1:p.His278Tyr H (His) > Y (Tyr) Missense Variant
GDA transcript variant X2 XM_011519213.3:c.832C>T H [CAT] > Y [TAT] Coding Sequence Variant
guanine deaminase isoform X1 XP_011517515.1:p.His278Tyr H (His) > Y (Tyr) Missense Variant
GDA transcript variant X7 XM_011519215.3:c.832C>T H [CAT] > Y [TAT] Coding Sequence Variant
guanine deaminase isoform X2 XP_011517517.1:p.His278Tyr H (His) > Y (Tyr) Missense Variant
GDA transcript variant X8 XM_011519216.3:c.832C>T H [CAT] > Y [TAT] Coding Sequence Variant
guanine deaminase isoform X2 XP_011517518.1:p.His278Tyr H (His) > Y (Tyr) Missense Variant
GDA transcript variant X9 XM_047424099.1:c.832C>T H [CAT] > Y [TAT] Coding Sequence Variant
guanine deaminase isoform X2 XP_047280055.1:p.His278Tyr H (His) > Y (Tyr) Missense Variant
GDA transcript variant X11 XM_011519217.3:c.832C>T H [CAT] > Y [TAT] Coding Sequence Variant
guanine deaminase isoform X3 XP_011517519.1:p.His278Tyr H (His) > Y (Tyr) Missense Variant
GDA transcript variant X15 XM_047424101.1:c.739C>T H [CAT] > Y [TAT] Coding Sequence Variant
guanine deaminase isoform X4 XP_047280057.1:p.His247Tyr H (His) > Y (Tyr) Missense Variant
GDA transcript variant X16 XM_005252317.3:c.718C>T H [CAT] > Y [TAT] Coding Sequence Variant
guanine deaminase isoform X5 XP_005252374.1:p.His240Tyr H (His) > Y (Tyr) Missense Variant
GDA transcript variant X17 XM_047424102.1:c.712C>T H [CAT] > Y [TAT] Coding Sequence Variant
guanine deaminase isoform X6 XP_047280058.1:p.His238Tyr H (His) > Y (Tyr) Missense Variant
GDA transcript variant X18 XM_011519218.3:c.712C>T H [CAT] > Y [TAT] Coding Sequence Variant
guanine deaminase isoform X6 XP_011517520.1:p.His238Tyr H (His) > Y (Tyr) Missense Variant
GDA transcript variant X19 XM_011519219.2:c.706C>T H [CAT] > Y [TAT] Coding Sequence Variant
guanine deaminase isoform X7 XP_011517521.1:p.His236Tyr H (His) > Y (Tyr) Missense Variant
GDA transcript variant X20 XM_024447720.2:c.718C>T H [CAT] > Y [TAT] Coding Sequence Variant
guanine deaminase isoform X8 XP_024303488.1:p.His240Tyr H (His) > Y (Tyr) Missense Variant
GDA transcript variant X21 XM_047424103.1:c.718C>T H [CAT] > Y [TAT] Coding Sequence Variant
guanine deaminase isoform X8 XP_047280059.1:p.His240Tyr H (His) > Y (Tyr) Missense Variant
GDA transcript variant X23 XM_017015338.2:c.652C>T H [CAT] > Y [TAT] Coding Sequence Variant
guanine deaminase isoform X9 XP_016870827.1:p.His218Tyr H (His) > Y (Tyr) Missense Variant
GDA transcript variant X24 XM_047424104.1:c.652C>T H [CAT] > Y [TAT] Coding Sequence Variant
guanine deaminase isoform X9 XP_047280060.1:p.His218Tyr H (His) > Y (Tyr) Missense Variant
GDA transcript variant X25 XM_011519220.2:c.592C>T H [CAT] > Y [TAT] Coding Sequence Variant
guanine deaminase isoform X10 XP_011517522.1:p.His198Tyr H (His) > Y (Tyr) Missense Variant
GDA transcript variant X26 XM_047424106.1:c.592C>T H [CAT] > Y [TAT] Coding Sequence Variant
guanine deaminase isoform X10 XP_047280062.1:p.His198Tyr H (His) > Y (Tyr) Missense Variant
GDA transcript variant X27 XM_047424107.1:c.592C>T H [CAT] > Y [TAT] Coding Sequence Variant
guanine deaminase isoform X10 XP_047280063.1:p.His198Tyr H (His) > Y (Tyr) Missense Variant
GDA transcript variant X28 XM_047424108.1:c.592C>T H [CAT] > Y [TAT] Coding Sequence Variant
guanine deaminase isoform X11 XP_047280064.1:p.His198Tyr H (His) > Y (Tyr) Missense Variant
GDA transcript variant X29 XM_047424109.1:c.610C>T H [CAT] > Y [TAT] Coding Sequence Variant
guanine deaminase isoform X12 XP_047280065.1:p.His204Tyr H (His) > Y (Tyr) Missense Variant
GDA transcript variant X3 XR_001746423.3:n.952C>T N/A Non Coding Transcript Variant
GDA transcript variant X4 XR_007061376.1:n.952C>T N/A Non Coding Transcript Variant
GDA transcript variant X5 XR_007061377.1:n.952C>T N/A Non Coding Transcript Variant
GDA transcript variant X6 XR_007061378.1:n.952C>T N/A Non Coding Transcript Variant
GDA transcript variant X10 XR_007061379.1:n.952C>T N/A Non Coding Transcript Variant
GDA transcript variant X12 XR_007061380.1:n.952C>T N/A Non Coding Transcript Variant
GDA transcript variant X13 XR_001746424.3:n.952C>T N/A Non Coding Transcript Variant
GDA transcript variant X14 XR_929878.3:n.952C>T N/A Non Coding Transcript Variant
GDA transcript variant X22 XR_007061381.1:n.838C>T N/A Non Coding Transcript 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 C= T
GRCh38.p14 chr 9 NC_000009.12:g.72225680= NC_000009.12:g.72225680C>T
GRCh37.p13 chr 9 NC_000009.11:g.74840596= NC_000009.11:g.74840596C>T
GDA RefSeqGene NG_030562.1:g.116086= NG_030562.1:g.116086C>T
GDA transcript variant 2 NM_004293.5:c.718= NM_004293.5:c.718C>T
GDA transcript variant 2 NM_004293.4:c.718= NM_004293.4:c.718C>T
GDA transcript variant 3 NM_001242506.3:c.496= NM_001242506.3:c.496C>T
GDA transcript variant 3 NM_001242506.2:c.496= NM_001242506.2:c.496C>T
GDA transcript variant 4 NM_001242507.3:c.496= NM_001242507.3:c.496C>T
GDA transcript variant 4 NM_001242507.2:c.496= NM_001242507.2:c.496C>T
GDA transcript variant 1 NM_001242505.3:c.718= NM_001242505.3:c.718C>T
GDA transcript variant 1 NM_001242505.2:c.718= NM_001242505.2:c.718C>T
GDA transcript variant 5 NM_001351571.2:c.592= NM_001351571.2:c.592C>T
GDA transcript variant 5 NM_001351571.1:c.592= NM_001351571.1:c.592C>T
GDA transcript variant 8 NR_147240.2:n.838= NR_147240.2:n.838C>T
GDA transcript variant 8 NR_147240.1:n.927= NR_147240.1:n.927C>T
GDA transcript variant 6 NM_001351572.2:c.718= NM_001351572.2:c.718C>T
GDA transcript variant 6 NM_001351572.1:c.718= NM_001351572.1:c.718C>T
GDA transcript variant 7 NM_001351573.2:c.718= NM_001351573.2:c.718C>T
GDA transcript variant 7 NM_001351573.1:c.718= NM_001351573.1:c.718C>T
GDA transcript variant X3 XR_001746423.3:n.952= XR_001746423.3:n.952C>T
GDA transcript variant X2 XR_001746423.2:n.1030= XR_001746423.2:n.1030C>T
GDA transcript variant X4 XR_001746423.1:n.1039= XR_001746423.1:n.1039C>T
GDA transcript variant X11 XM_011519217.3:c.832= XM_011519217.3:c.832C>T
GDA transcript variant X10 XM_011519217.2:c.832= XM_011519217.2:c.832C>T
GDA transcript variant X10 XM_011519217.1:c.832= XM_011519217.1:c.832C>T
GDA transcript variant X13 XR_001746424.3:n.952= XR_001746424.3:n.952C>T
GDA transcript variant X11 XR_001746424.2:n.1030= XR_001746424.2:n.1030C>T
GDA transcript variant X11 XR_001746424.1:n.1039= XR_001746424.1:n.1039C>T
GDA transcript variant X18 XM_011519218.3:c.712= XM_011519218.3:c.712C>T
GDA transcript variant X14 XM_011519218.2:c.712= XM_011519218.2:c.712C>T
GDA transcript variant X10 XM_011519218.1:c.712= XM_011519218.1:c.712C>T
GDA transcript variant X1 XM_011519222.3:c.832= XM_011519222.3:c.832C>T
GDA transcript variant X1 XM_011519222.2:c.832= XM_011519222.2:c.832C>T
GDA transcript variant X1 XM_011519222.1:c.832= XM_011519222.1:c.832C>T
GDA transcript variant X7 XM_011519215.3:c.832= XM_011519215.3:c.832C>T
GDA transcript variant X6 XM_011519215.2:c.832= XM_011519215.2:c.832C>T
GDA transcript variant X6 XM_011519215.1:c.832= XM_011519215.1:c.832C>T
GDA transcript variant X16 XM_005252317.3:c.718= XM_005252317.3:c.718C>T
GDA transcript variant X13 XM_005252317.2:c.718= XM_005252317.2:c.718C>T
GDA transcript variant X13 XM_005252317.1:c.718= XM_005252317.1:c.718C>T
GDA transcript variant X2 XM_011519213.3:c.832= XM_011519213.3:c.832C>T
GDA transcript variant X3 XM_011519213.2:c.832= XM_011519213.2:c.832C>T
GDA transcript variant X2 XM_011519213.1:c.832= XM_011519213.1:c.832C>T
GDA transcript variant X8 XM_011519216.3:c.832= XM_011519216.3:c.832C>T
GDA transcript variant X8 XM_011519216.2:c.832= XM_011519216.2:c.832C>T
GDA transcript variant X8 XM_011519216.1:c.832= XM_011519216.1:c.832C>T
GDA transcript variant X14 XR_929878.3:n.952= XR_929878.3:n.952C>T
GDA transcript variant X12 XR_929878.2:n.1030= XR_929878.2:n.1030C>T
GDA transcript variant X12 XR_929878.1:n.1039= XR_929878.1:n.1039C>T
GDA transcript variant X23 XM_017015338.2:c.652= XM_017015338.2:c.652C>T
GDA transcript variant X17 XM_017015338.1:c.652= XM_017015338.1:c.652C>T
GDA transcript variant X19 XM_011519219.2:c.706= XM_011519219.2:c.706C>T
GDA transcript variant X15 XM_011519219.1:c.706= XM_011519219.1:c.706C>T
GDA transcript variant X25 XM_011519220.2:c.592= XM_011519220.2:c.592C>T
GDA transcript variant X18 XM_011519220.1:c.592= XM_011519220.1:c.592C>T
GDA transcript variant X20 XM_024447720.2:c.718= XM_024447720.2:c.718C>T
GDA transcript variant X16 XM_024447720.1:c.718= XM_024447720.1:c.718C>T
GDA transcript variant X31 XM_017015340.2:c.208= XM_017015340.2:c.208C>T
GDA transcript variant X24 XM_017015340.1:c.208= XM_017015340.1:c.208C>T
GDA transcript variant X30 XM_011519223.2:c.208= XM_011519223.2:c.208C>T
GDA transcript variant X15 XM_011519223.1:c.208= XM_011519223.1:c.208C>T
GDA transcript variant X6 XR_007061378.1:n.952= XR_007061378.1:n.952C>T
GDA transcript variant X10 XR_007061379.1:n.952= XR_007061379.1:n.952C>T
GDA transcript variant X12 XR_007061380.1:n.952= XR_007061380.1:n.952C>T
GDA transcript variant X4 XR_007061376.1:n.952= XR_007061376.1:n.952C>T
GDA transcript variant X22 XR_007061381.1:n.838= XR_007061381.1:n.838C>T
GDA transcript variant X17 XM_047424102.1:c.712= XM_047424102.1:c.712C>T
GDA transcript variant X5 XR_007061377.1:n.952= XR_007061377.1:n.952C>T
GDA transcript variant X24 XM_047424104.1:c.652= XM_047424104.1:c.652C>T
GDA transcript variant X29 XM_047424109.1:c.610= XM_047424109.1:c.610C>T
GDA transcript variant X15 XM_047424101.1:c.739= XM_047424101.1:c.739C>T
GDA transcript variant X28 XM_047424108.1:c.592= XM_047424108.1:c.592C>T
GDA transcript variant X26 XM_047424106.1:c.592= XM_047424106.1:c.592C>T
GDA transcript variant X9 XM_047424099.1:c.832= XM_047424099.1:c.832C>T
GDA transcript variant X21 XM_047424103.1:c.718= XM_047424103.1:c.718C>T
GDA transcript variant X27 XM_047424107.1:c.592= XM_047424107.1:c.592C>T
guanine deaminase isoform b NP_004284.1:p.His240= NP_004284.1:p.His240Tyr
guanine deaminase isoform c NP_001229435.1:p.His166= NP_001229435.1:p.His166Tyr
guanine deaminase isoform c NP_001229436.1:p.His166= NP_001229436.1:p.His166Tyr
guanine deaminase isoform a NP_001229434.1:p.His240= NP_001229434.1:p.His240Tyr
guanine deaminase isoform d NP_001338500.1:p.His198= NP_001338500.1:p.His198Tyr
guanine deaminase isoform a NP_001338501.1:p.His240= NP_001338501.1:p.His240Tyr
guanine deaminase isoform e NP_001338502.1:p.His240= NP_001338502.1:p.His240Tyr
guanine deaminase isoform X3 XP_011517519.1:p.His278= XP_011517519.1:p.His278Tyr
guanine deaminase isoform X6 XP_011517520.1:p.His238= XP_011517520.1:p.His238Tyr
guanine deaminase isoform X1 XP_011517524.1:p.His278= XP_011517524.1:p.His278Tyr
guanine deaminase isoform X2 XP_011517517.1:p.His278= XP_011517517.1:p.His278Tyr
guanine deaminase isoform X5 XP_005252374.1:p.His240= XP_005252374.1:p.His240Tyr
guanine deaminase isoform X1 XP_011517515.1:p.His278= XP_011517515.1:p.His278Tyr
guanine deaminase isoform X2 XP_011517518.1:p.His278= XP_011517518.1:p.His278Tyr
guanine deaminase isoform X9 XP_016870827.1:p.His218= XP_016870827.1:p.His218Tyr
guanine deaminase isoform X7 XP_011517521.1:p.His236= XP_011517521.1:p.His236Tyr
guanine deaminase isoform X10 XP_011517522.1:p.His198= XP_011517522.1:p.His198Tyr
guanine deaminase isoform X8 XP_024303488.1:p.His240= XP_024303488.1:p.His240Tyr
guanine deaminase isoform X13 XP_016870829.1:p.His70= XP_016870829.1:p.His70Tyr
guanine deaminase isoform X13 XP_011517525.1:p.His70= XP_011517525.1:p.His70Tyr
guanine deaminase isoform X6 XP_047280058.1:p.His238= XP_047280058.1:p.His238Tyr
guanine deaminase isoform X9 XP_047280060.1:p.His218= XP_047280060.1:p.His218Tyr
guanine deaminase isoform X12 XP_047280065.1:p.His204= XP_047280065.1:p.His204Tyr
guanine deaminase isoform X4 XP_047280057.1:p.His247= XP_047280057.1:p.His247Tyr
guanine deaminase isoform X11 XP_047280064.1:p.His198= XP_047280064.1:p.His198Tyr
guanine deaminase isoform X10 XP_047280062.1:p.His198= XP_047280062.1:p.His198Tyr
guanine deaminase isoform X2 XP_047280055.1:p.His278= XP_047280055.1:p.His278Tyr
guanine deaminase isoform X8 XP_047280059.1:p.His240= XP_047280059.1:p.His240Tyr
guanine deaminase isoform X10 XP_047280063.1:p.His198= XP_047280063.1:p.His198Tyr
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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, 2 Frequency submissions
No Submitter Submission ID Date (Build)
1 TOPMED ss4822812263 Apr 26, 2021 (155)
2 TopMed NC_000009.12 - 72225680 Apr 26, 2021 (155)
3 ALFA NC_000009.12 - 72225680 Apr 26, 2021 (155)
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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
660189824, 12658842092, ss4822812263 NC_000009.12:72225679:C:T NC_000009.12:72225679:C:T (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 rs1472421183

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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