Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs1456802789

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr2:144141941 (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
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000004 (1/264690, TOPMED)
A=0.000007 (1/139996, GnomAD)
A=0.00000 (0/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
GTDC1 : Synonymous 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 G=1.00000 A=0.00000 1.0 0.0 0.0 N/A
European Sub 9690 G=1.0000 A=0.0000 1.0 0.0 0.0 N/A
African Sub 2898 G=1.0000 A=0.0000 1.0 0.0 0.0 N/A
African Others Sub 114 G=1.000 A=0.000 1.0 0.0 0.0 N/A
African American Sub 2784 G=1.0000 A=0.0000 1.0 0.0 0.0 N/A
Asian Sub 112 G=1.000 A=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 G=1.00 A=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 G=1.00 A=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 G=1.000 A=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 G=1.000 A=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 G=1.00 A=0.00 1.0 0.0 0.0 N/A
Other Sub 496 G=1.000 A=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 G=0.999996 A=0.000004
gnomAD - Genomes Global Study-wide 139996 G=0.999993 A=0.000007
gnomAD - Genomes European Sub 75832 G=1.00000 A=0.00000
gnomAD - Genomes African Sub 41994 G=0.99998 A=0.00002
gnomAD - Genomes American Sub 13580 G=1.00000 A=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3116 G=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2150 G=1.0000 A=0.0000
Allele Frequency Aggregator Total Global 14050 G=1.00000 A=0.00000
Allele Frequency Aggregator European Sub 9690 G=1.0000 A=0.0000
Allele Frequency Aggregator African Sub 2898 G=1.0000 A=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 G=1.000 A=0.000
Allele Frequency Aggregator Other Sub 496 G=1.000 A=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 G=1.000 A=0.000
Allele Frequency Aggregator Asian Sub 112 G=1.000 A=0.000
Allele Frequency Aggregator South Asian Sub 98 G=1.00 A=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.144141941G>A
GRCh37.p13 chr 2 NC_000002.11:g.144899508G>A
Gene: GTDC1, glycosyltransferase like domain containing 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
GTDC1 transcript variant 13 NM_001354355.3:c.-259= N/A 5 Prime UTR Variant
GTDC1 transcript variant 43 NM_001376329.2:c.-363= N/A 5 Prime UTR Variant
GTDC1 transcript variant 8 NM_001354350.2:c.-266= N/A 5 Prime UTR Variant
GTDC1 transcript variant 16 NM_001354358.1:c.462C>T S [AGC] > S [AGT] Coding Sequence Variant
tRNA-queuosine alpha-mannosyltransferase isoform e NP_001341287.1:p.Ser154= S (Ser) > S (Ser) Synonymous Variant
GTDC1 transcript variant 18 NM_001354361.1:c.462C>T S [AGC] > S [AGT] Coding Sequence Variant
tRNA-queuosine alpha-mannosyltransferase isoform a NP_001341290.1:p.Ser154= S (Ser) > S (Ser) Synonymous Variant
GTDC1 transcript variant 1 NM_001006636.5:c.462C>T S [AGC] > S [AGT] Coding Sequence Variant
tRNA-queuosine alpha-mannosyltransferase isoform a NP_001006637.1:p.Ser154= S (Ser) > S (Ser) Synonymous Variant
GTDC1 transcript variant 44 NM_001376330.1:c.462C>T S [AGC] > S [AGT] Coding Sequence Variant
tRNA-queuosine alpha-mannosyltransferase isoform e NP_001363259.1:p.Ser154= S (Ser) > S (Ser) Synonymous Variant
GTDC1 transcript variant 42 NM_001376328.1:c.462C>T S [AGC] > S [AGT] Coding Sequence Variant
tRNA-queuosine alpha-mannosyltransferase isoform h NP_001363257.1:p.Ser154= S (Ser) > S (Ser) Synonymous Variant
GTDC1 transcript variant 6 NM_001284235.2:c.462C>T S [AGC] > S [AGT] Coding Sequence Variant
tRNA-queuosine alpha-mannosyltransferase isoform e NP_001271164.1:p.Ser154= S (Ser) > S (Ser) Synonymous Variant
GTDC1 transcript variant 2 NM_024659.6:c.462C>T S [AGC] > S [AGT] Coding Sequence Variant
tRNA-queuosine alpha-mannosyltransferase isoform b NP_078935.2:p.Ser154= S (Ser) > S (Ser) Synonymous Variant
GTDC1 transcript variant 17 NM_001354360.2:c.462C>T S [AGC] > S [AGT] Coding Sequence Variant
tRNA-queuosine alpha-mannosyltransferase isoform c NP_001341289.1:p.Ser154= S (Ser) > S (Ser) Synonymous Variant
GTDC1 transcript variant 4 NM_001284233.4:c.462C>T S [AGC] > S [AGT] Coding Sequence Variant
tRNA-queuosine alpha-mannosyltransferase isoform c NP_001271162.1:p.Ser154= S (Ser) > S (Ser) Synonymous Variant
GTDC1 transcript variant 39 NM_001376325.2:c.462C>T S [AGC] > S [AGT] Coding Sequence Variant
tRNA-queuosine alpha-mannosyltransferase isoform h NP_001363254.1:p.Ser154= S (Ser) > S (Ser) Synonymous Variant
GTDC1 transcript variant 7 NM_001284238.3:c.366C>T S [AGC] > S [AGT] Coding Sequence Variant
tRNA-queuosine alpha-mannosyltransferase isoform f NP_001271167.1:p.Ser122= S (Ser) > S (Ser) Synonymous Variant
GTDC1 transcript variant 3 NM_001164629.5:c.462C>T S [AGC] > S [AGT] Coding Sequence Variant
tRNA-queuosine alpha-mannosyltransferase isoform a NP_001158101.1:p.Ser154= S (Ser) > S (Ser) Synonymous Variant
GTDC1 transcript variant 31 NM_001376317.2:c.462C>T S [AGC] > S [AGT] Coding Sequence Variant
tRNA-queuosine alpha-mannosyltransferase isoform l NP_001363246.1:p.Ser154= S (Ser) > S (Ser) Synonymous Variant
GTDC1 transcript variant 29 NM_001376315.2:c.462C>T S [AGC] > S [AGT] Coding Sequence Variant
tRNA-queuosine alpha-mannosyltransferase isoform a NP_001363244.1:p.Ser154= S (Ser) > S (Ser) Synonymous Variant
GTDC1 transcript variant 22 NM_001376308.2:c.462C>T S [AGC] > S [AGT] Coding Sequence Variant
tRNA-queuosine alpha-mannosyltransferase isoform a NP_001363237.1:p.Ser154= S (Ser) > S (Ser) Synonymous Variant
GTDC1 transcript variant 10 NM_001354352.2:c.462C>T S [AGC] > S [AGT] Coding Sequence Variant
tRNA-queuosine alpha-mannosyltransferase isoform h NP_001341281.1:p.Ser154= S (Ser) > S (Ser) Synonymous Variant
GTDC1 transcript variant 14 NM_001354356.2:c.462C>T S [AGC] > S [AGT] Coding Sequence Variant
tRNA-queuosine alpha-mannosyltransferase isoform e NP_001341285.1:p.Ser154= S (Ser) > S (Ser) Synonymous Variant
GTDC1 transcript variant 9 NM_001354351.2:c.75C>T S [AGC] > S [AGT] Coding Sequence Variant
tRNA-queuosine alpha-mannosyltransferase isoform d NP_001341280.1:p.Ser25= S (Ser) > S (Ser) Synonymous Variant
GTDC1 transcript variant 37 NM_001376323.2:c.462C>T S [AGC] > S [AGT] Coding Sequence Variant
tRNA-queuosine alpha-mannosyltransferase isoform b NP_001363252.1:p.Ser154= S (Ser) > S (Ser) Synonymous Variant
GTDC1 transcript variant 27 NM_001376313.2:c.462C>T S [AGC] > S [AGT] Coding Sequence Variant
tRNA-queuosine alpha-mannosyltransferase isoform a NP_001363242.1:p.Ser154= S (Ser) > S (Ser) Synonymous Variant
GTDC1 transcript variant 24 NM_001376310.2:c.462C>T S [AGC] > S [AGT] Coding Sequence Variant
tRNA-queuosine alpha-mannosyltransferase isoform a NP_001363239.1:p.Ser154= S (Ser) > S (Ser) Synonymous Variant
GTDC1 transcript variant 40 NM_001376326.2:c.462C>T S [AGC] > S [AGT] Coding Sequence Variant
tRNA-queuosine alpha-mannosyltransferase isoform h NP_001363255.1:p.Ser154= S (Ser) > S (Ser) Synonymous Variant
GTDC1 transcript variant 11 NM_001354353.2:c.462C>T S [AGC] > S [AGT] Coding Sequence Variant
tRNA-queuosine alpha-mannosyltransferase isoform i NP_001341282.1:p.Ser154= S (Ser) > S (Ser) Synonymous Variant
GTDC1 transcript variant 28 NM_001376314.2:c.462C>T S [AGC] > S [AGT] Coding Sequence Variant
tRNA-queuosine alpha-mannosyltransferase isoform a NP_001363243.1:p.Ser154= S (Ser) > S (Ser) Synonymous Variant
GTDC1 transcript variant 19 NM_001354362.3:c.462C>T S [AGC] > S [AGT] Coding Sequence Variant
tRNA-queuosine alpha-mannosyltransferase isoform h NP_001341291.1:p.Ser154= S (Ser) > S (Ser) Synonymous Variant
GTDC1 transcript variant 20 NM_001376306.2:c.462C>T S [AGC] > S [AGT] Coding Sequence Variant
tRNA-queuosine alpha-mannosyltransferase isoform j NP_001363235.1:p.Ser154= S (Ser) > S (Ser) Synonymous Variant
GTDC1 transcript variant 25 NM_001376311.2:c.462C>T S [AGC] > S [AGT] Coding Sequence Variant
tRNA-queuosine alpha-mannosyltransferase isoform a NP_001363240.1:p.Ser154= S (Ser) > S (Ser) Synonymous Variant
GTDC1 transcript variant 23 NM_001376309.2:c.462C>T S [AGC] > S [AGT] Coding Sequence Variant
tRNA-queuosine alpha-mannosyltransferase isoform a NP_001363238.1:p.Ser154= S (Ser) > S (Ser) Synonymous Variant
GTDC1 transcript variant 12 NM_001354354.2:c.462C>T S [AGC] > S [AGT] Coding Sequence Variant
tRNA-queuosine alpha-mannosyltransferase isoform a NP_001341283.1:p.Ser154= S (Ser) > S (Ser) Synonymous Variant
GTDC1 transcript variant 21 NM_001376307.2:c.462C>T S [AGC] > S [AGT] Coding Sequence Variant
tRNA-queuosine alpha-mannosyltransferase isoform a NP_001363236.1:p.Ser154= S (Ser) > S (Ser) Synonymous Variant
GTDC1 transcript variant 33 NM_001376319.2:c.462C>T S [AGC] > S [AGT] Coding Sequence Variant
tRNA-queuosine alpha-mannosyltransferase isoform c NP_001363248.1:p.Ser154= S (Ser) > S (Ser) Synonymous Variant
GTDC1 transcript variant 34 NM_001376320.2:c.462C>T S [AGC] > S [AGT] Coding Sequence Variant
tRNA-queuosine alpha-mannosyltransferase isoform b NP_001363249.1:p.Ser154= S (Ser) > S (Ser) Synonymous Variant
GTDC1 transcript variant 41 NM_001376327.2:c.462C>T S [AGC] > S [AGT] Coding Sequence Variant
tRNA-queuosine alpha-mannosyltransferase isoform h NP_001363256.1:p.Ser154= S (Ser) > S (Ser) Synonymous Variant
GTDC1 transcript variant 46 NM_001376332.2:c.462C>T S [AGC] > S [AGT] Coding Sequence Variant
tRNA-queuosine alpha-mannosyltransferase isoform n NP_001363261.1:p.Ser154= S (Ser) > S (Ser) Synonymous Variant
GTDC1 transcript variant 32 NM_001376318.2:c.462C>T S [AGC] > S [AGT] Coding Sequence Variant
tRNA-queuosine alpha-mannosyltransferase isoform c NP_001363247.1:p.Ser154= S (Ser) > S (Ser) Synonymous Variant
GTDC1 transcript variant 5 NM_001284234.3:c.75C>T S [AGC] > S [AGT] Coding Sequence Variant
tRNA-queuosine alpha-mannosyltransferase isoform d NP_001271163.1:p.Ser25= S (Ser) > S (Ser) Synonymous Variant
GTDC1 transcript variant 36 NM_001376322.2:c.462C>T S [AGC] > S [AGT] Coding Sequence Variant
tRNA-queuosine alpha-mannosyltransferase isoform b NP_001363251.1:p.Ser154= S (Ser) > S (Ser) Synonymous Variant
GTDC1 transcript variant 30 NM_001376316.2:c.462C>T S [AGC] > S [AGT] Coding Sequence Variant
tRNA-queuosine alpha-mannosyltransferase isoform k NP_001363245.1:p.Ser154= S (Ser) > S (Ser) Synonymous Variant
GTDC1 transcript variant 26 NM_001376312.2:c.462C>T S [AGC] > S [AGT] Coding Sequence Variant
tRNA-queuosine alpha-mannosyltransferase isoform a NP_001363241.1:p.Ser154= S (Ser) > S (Ser) Synonymous Variant
GTDC1 transcript variant 35 NM_001376321.2:c.462C>T S [AGC] > S [AGT] Coding Sequence Variant
tRNA-queuosine alpha-mannosyltransferase isoform b NP_001363250.1:p.Ser154= S (Ser) > S (Ser) Synonymous Variant
GTDC1 transcript variant 38 NM_001376324.2:c.462C>T S [AGC] > S [AGT] Coding Sequence Variant
tRNA-queuosine alpha-mannosyltransferase isoform b NP_001363253.1:p.Ser154= S (Ser) > S (Ser) Synonymous Variant
GTDC1 transcript variant 45 NM_001376331.2:c.462C>T S [AGC] > S [AGT] Coding Sequence Variant
tRNA-queuosine alpha-mannosyltransferase isoform m NP_001363260.1:p.Ser154= S (Ser) > S (Ser) Synonymous Variant
GTDC1 transcript variant 50 NR_164802.2:n.686C>T N/A Non Coding Transcript Variant
GTDC1 transcript variant 48 NR_164800.2:n.746C>T N/A Non Coding Transcript Variant
GTDC1 transcript variant 15 NR_148872.2:n.695C>T N/A Non Coding Transcript Variant
GTDC1 transcript variant 47 NR_164799.2:n.804C>T N/A Non Coding Transcript Variant
GTDC1 transcript variant 51 NR_164803.2:n.686C>T N/A Non Coding Transcript Variant
GTDC1 transcript variant 54 NR_164806.2:n.767C>T N/A Non Coding Transcript Variant
GTDC1 transcript variant 49 NR_164801.2:n.686C>T N/A Non Coding Transcript Variant
GTDC1 transcript variant 55 NR_164807.2:n.686C>T N/A Non Coding Transcript Variant
GTDC1 transcript variant 52 NR_164804.2:n.686C>T N/A Non Coding Transcript Variant
GTDC1 transcript variant 53 NR_164805.2:n.686C>T N/A Non Coding Transcript Variant
GTDC1 transcript variant 57 NR_164809.2:n.1288C>T N/A Non Coding Transcript Variant
GTDC1 transcript variant 56 NR_164808.2:n.686C>T N/A Non Coding Transcript Variant
GTDC1 transcript variant X10 XM_047445847.1:c. N/A Genic Upstream Transcript Variant
GTDC1 transcript variant X1 XM_047445841.1:c.489C>T S [AGC] > S [AGT] Coding Sequence Variant
tRNA-queuosine alpha-mannosyltransferase isoform X1 XP_047301797.1:p.Ser163= S (Ser) > S (Ser) Synonymous Variant
GTDC1 transcript variant X2 XM_047445842.1:c.489C>T S [AGC] > S [AGT] Coding Sequence Variant
tRNA-queuosine alpha-mannosyltransferase isoform X1 XP_047301798.1:p.Ser163= S (Ser) > S (Ser) Synonymous Variant
GTDC1 transcript variant X3 XM_047445843.1:c.489C>T S [AGC] > S [AGT] Coding Sequence Variant
tRNA-queuosine alpha-mannosyltransferase isoform X1 XP_047301799.1:p.Ser163= S (Ser) > S (Ser) Synonymous Variant
GTDC1 transcript variant X4 XM_047445844.1:c.489C>T S [AGC] > S [AGT] Coding Sequence Variant
tRNA-queuosine alpha-mannosyltransferase isoform X1 XP_047301800.1:p.Ser163= S (Ser) > S (Ser) Synonymous Variant
GTDC1 transcript variant X5 XM_011511855.4:c.462C>T S [AGC] > S [AGT] Coding Sequence Variant
tRNA-queuosine alpha-mannosyltransferase isoform X2 XP_011510157.1:p.Ser154= S (Ser) > S (Ser) Synonymous Variant
GTDC1 transcript variant X6 XM_047445845.1:c.366C>T S [AGC] > S [AGT] Coding Sequence Variant
tRNA-queuosine alpha-mannosyltransferase isoform X3 XP_047301801.1:p.Ser122= S (Ser) > S (Ser) Synonymous Variant
GTDC1 transcript variant X7 XM_024453145.2:c.366C>T S [AGC] > S [AGT] Coding Sequence Variant
tRNA-queuosine alpha-mannosyltransferase isoform X3 XP_024308913.1:p.Ser122= S (Ser) > S (Ser) Synonymous Variant
GTDC1 transcript variant X8 XM_011511856.4:c.366C>T S [AGC] > S [AGT] Coding Sequence Variant
tRNA-queuosine alpha-mannosyltransferase isoform X3 XP_011510158.1:p.Ser122= S (Ser) > S (Ser) Synonymous Variant
GTDC1 transcript variant X9 XM_047445846.1:c.75C>T S [AGC] > S [AGT] Coding Sequence Variant
tRNA-queuosine alpha-mannosyltransferase isoform X4 XP_047301802.1:p.Ser25= S (Ser) > S (Ser) Synonymous 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 G= A
GRCh38.p14 chr 2 NC_000002.12:g.144141941= NC_000002.12:g.144141941G>A
GRCh37.p13 chr 2 NC_000002.11:g.144899508= NC_000002.11:g.144899508G>A
GTDC1 transcript variant 2 NM_024659.6:c.462= NM_024659.6:c.462C>T
GTDC1 transcript variant 2 NM_024659.5:c.462= NM_024659.5:c.462C>T
GTDC1 transcript variant 2 NM_024659.4:c.462= NM_024659.4:c.462C>T
GTDC1 transcript variant 3 NM_001164629.5:c.462= NM_001164629.5:c.462C>T
GTDC1 transcript variant 3 NM_001164629.4:c.462= NM_001164629.4:c.462C>T
GTDC1 transcript variant 3 NM_001164629.3:c.462= NM_001164629.3:c.462C>T
GTDC1 transcript variant 3 NM_001164629.2:c.462= NM_001164629.2:c.462C>T
GTDC1 transcript variant 1 NM_001006636.5:c.462= NM_001006636.5:c.462C>T
GTDC1 transcript variant 1 NM_001006636.4:c.462= NM_001006636.4:c.462C>T
GTDC1 transcript variant 1 NM_001006636.3:c.462= NM_001006636.3:c.462C>T
GTDC1 transcript variant X5 XM_011511855.4:c.462= XM_011511855.4:c.462C>T
GTDC1 transcript variant X12 XM_011511855.3:c.462= XM_011511855.3:c.462C>T
GTDC1 transcript variant X12 XM_011511855.2:c.462= XM_011511855.2:c.462C>T
GTDC1 transcript variant X21 XM_011511855.1:c.462= XM_011511855.1:c.462C>T
GTDC1 transcript variant X8 XM_011511856.4:c.366= XM_011511856.4:c.366C>T
GTDC1 transcript variant X16 XM_011511856.3:c.366= XM_011511856.3:c.366C>T
GTDC1 transcript variant X15 XM_011511856.2:c.366= XM_011511856.2:c.366C>T
GTDC1 transcript variant X22 XM_011511856.1:c.366= XM_011511856.1:c.366C>T
GTDC1 transcript variant 4 NM_001284233.4:c.462= NM_001284233.4:c.462C>T
GTDC1 transcript variant 4 NM_001284233.3:c.462= NM_001284233.3:c.462C>T
GTDC1 transcript variant 4 NM_001284233.2:c.462= NM_001284233.2:c.462C>T
GTDC1 transcript variant 4 NM_001284233.1:c.462= NM_001284233.1:c.462C>T
GTDC1 transcript variant 13 NM_001354355.3:c.-259= NM_001354355.3:c.-259C>T
GTDC1 transcript variant 13 NM_001354355.2:c.-259= NM_001354355.2:c.-259C>T
GTDC1 transcript variant 13 NM_001354355.1:c.-259= NM_001354355.1:c.-259C>T
GTDC1 transcript variant 7 NM_001284238.3:c.366= NM_001284238.3:c.366C>T
GTDC1 transcript variant 7 NM_001284238.2:c.366= NM_001284238.2:c.366C>T
GTDC1 transcript variant 7 NM_001284238.1:c.366= NM_001284238.1:c.366C>T
GTDC1 transcript variant 19 NM_001354362.3:c.462= NM_001354362.3:c.462C>T
GTDC1 transcript variant 19 NM_001354362.2:c.462= NM_001354362.2:c.462C>T
GTDC1 transcript variant 19 NM_001354362.1:c.462= NM_001354362.1:c.462C>T
GTDC1 transcript variant 5 NM_001284234.3:c.75= NM_001284234.3:c.75C>T
GTDC1 transcript variant 5 NM_001284234.2:c.75= NM_001284234.2:c.75C>T
GTDC1 transcript variant 5 NM_001284234.1:c.75= NM_001284234.1:c.75C>T
GTDC1 transcript variant 57 NR_164809.2:n.1288= NR_164809.2:n.1288C>T
GTDC1 transcript variant 57 NR_164809.1:n.1288= NR_164809.1:n.1288C>T
GTDC1 transcript variant 29 NM_001376315.2:c.462= NM_001376315.2:c.462C>T
GTDC1 transcript variant 29 NM_001376315.1:c.462= NM_001376315.1:c.462C>T
GTDC1 transcript variant 9 NM_001354351.2:c.75= NM_001354351.2:c.75C>T
GTDC1 transcript variant 9 NM_001354351.1:c.75= NM_001354351.1:c.75C>T
GTDC1 transcript variant 32 NM_001376318.2:c.462= NM_001376318.2:c.462C>T
GTDC1 transcript variant 32 NM_001376318.1:c.462= NM_001376318.1:c.462C>T
GTDC1 transcript variant 38 NM_001376324.2:c.462= NM_001376324.2:c.462C>T
GTDC1 transcript variant 38 NM_001376324.1:c.462= NM_001376324.1:c.462C>T
GTDC1 transcript variant 33 NM_001376319.2:c.462= NM_001376319.2:c.462C>T
GTDC1 transcript variant 33 NM_001376319.1:c.462= NM_001376319.1:c.462C>T
GTDC1 transcript variant 43 NM_001376329.2:c.-363= NM_001376329.2:c.-363C>T
GTDC1 transcript variant 43 NM_001376329.1:c.-363= NM_001376329.1:c.-363C>T
GTDC1 transcript variant 8 NM_001354350.2:c.-266= NM_001354350.2:c.-266C>T
GTDC1 transcript variant 8 NM_001354350.1:c.-266= NM_001354350.1:c.-266C>T
GTDC1 transcript variant 24 NM_001376310.2:c.462= NM_001376310.2:c.462C>T
GTDC1 transcript variant 24 NM_001376310.1:c.462= NM_001376310.1:c.462C>T
GTDC1 transcript variant 21 NM_001376307.2:c.462= NM_001376307.2:c.462C>T
GTDC1 transcript variant 21 NM_001376307.1:c.462= NM_001376307.1:c.462C>T
GTDC1 transcript variant 20 NM_001376306.2:c.462= NM_001376306.2:c.462C>T
GTDC1 transcript variant 20 NM_001376306.1:c.462= NM_001376306.1:c.462C>T
GTDC1 transcript variant 25 NM_001376311.2:c.462= NM_001376311.2:c.462C>T
GTDC1 transcript variant 25 NM_001376311.1:c.462= NM_001376311.1:c.462C>T
GTDC1 transcript variant 10 NM_001354352.2:c.462= NM_001354352.2:c.462C>T
GTDC1 transcript variant 10 NM_001354352.1:c.462= NM_001354352.1:c.462C>T
GTDC1 transcript variant 22 NM_001376308.2:c.462= NM_001376308.2:c.462C>T
GTDC1 transcript variant 22 NM_001376308.1:c.462= NM_001376308.1:c.462C>T
GTDC1 transcript variant 53 NR_164805.2:n.686= NR_164805.2:n.686C>T
GTDC1 transcript variant 53 NR_164805.1:n.686= NR_164805.1:n.686C>T
GTDC1 transcript variant 23 NM_001376309.2:c.462= NM_001376309.2:c.462C>T
GTDC1 transcript variant 23 NM_001376309.1:c.462= NM_001376309.1:c.462C>T
GTDC1 transcript variant 12 NM_001354354.2:c.462= NM_001354354.2:c.462C>T
GTDC1 transcript variant 12 NM_001354354.1:c.462= NM_001354354.1:c.462C>T
GTDC1 transcript variant 28 NM_001376314.2:c.462= NM_001376314.2:c.462C>T
GTDC1 transcript variant 28 NM_001376314.1:c.462= NM_001376314.1:c.462C>T
GTDC1 transcript variant X7 XM_024453145.2:c.366= XM_024453145.2:c.366C>T
GTDC1 transcript variant X14 XM_024453145.1:c.366= XM_024453145.1:c.366C>T
GTDC1 transcript variant 36 NM_001376322.2:c.462= NM_001376322.2:c.462C>T
GTDC1 transcript variant 36 NM_001376322.1:c.462= NM_001376322.1:c.462C>T
GTDC1 transcript variant 31 NM_001376317.2:c.462= NM_001376317.2:c.462C>T
GTDC1 transcript variant 31 NM_001376317.1:c.462= NM_001376317.1:c.462C>T
GTDC1 transcript variant 26 NM_001376312.2:c.462= NM_001376312.2:c.462C>T
GTDC1 transcript variant 26 NM_001376312.1:c.462= NM_001376312.1:c.462C>T
GTDC1 transcript variant 30 NM_001376316.2:c.462= NM_001376316.2:c.462C>T
GTDC1 transcript variant 30 NM_001376316.1:c.462= NM_001376316.1:c.462C>T
GTDC1 transcript variant 47 NR_164799.2:n.804= NR_164799.2:n.804C>T
GTDC1 transcript variant 47 NR_164799.1:n.804= NR_164799.1:n.804C>T
GTDC1 transcript variant 17 NM_001354360.2:c.462= NM_001354360.2:c.462C>T
GTDC1 transcript variant 17 NM_001354360.1:c.462= NM_001354360.1:c.462C>T
GTDC1 transcript variant 51 NR_164803.2:n.686= NR_164803.2:n.686C>T
GTDC1 transcript variant 51 NR_164803.1:n.686= NR_164803.1:n.686C>T
GTDC1 transcript variant 54 NR_164806.2:n.767= NR_164806.2:n.767C>T
GTDC1 transcript variant 54 NR_164806.1:n.767= NR_164806.1:n.767C>T
GTDC1 transcript variant 27 NM_001376313.2:c.462= NM_001376313.2:c.462C>T
GTDC1 transcript variant 27 NM_001376313.1:c.462= NM_001376313.1:c.462C>T
GTDC1 transcript variant 15 NR_148872.2:n.695= NR_148872.2:n.695C>T
GTDC1 transcript variant 15 NR_148872.1:n.695= NR_148872.1:n.695C>T
GTDC1 transcript variant 56 NR_164808.2:n.686= NR_164808.2:n.686C>T
GTDC1 transcript variant 56 NR_164808.1:n.686= NR_164808.1:n.686C>T
GTDC1 transcript variant 49 NR_164801.2:n.686= NR_164801.2:n.686C>T
GTDC1 transcript variant 49 NR_164801.1:n.686= NR_164801.1:n.686C>T
GTDC1 transcript variant 34 NM_001376320.2:c.462= NM_001376320.2:c.462C>T
GTDC1 transcript variant 34 NM_001376320.1:c.462= NM_001376320.1:c.462C>T
GTDC1 transcript variant 50 NR_164802.2:n.686= NR_164802.2:n.686C>T
GTDC1 transcript variant 50 NR_164802.1:n.686= NR_164802.1:n.686C>T
GTDC1 transcript variant 35 NM_001376321.2:c.462= NM_001376321.2:c.462C>T
GTDC1 transcript variant 35 NM_001376321.1:c.462= NM_001376321.1:c.462C>T
GTDC1 transcript variant 55 NR_164807.2:n.686= NR_164807.2:n.686C>T
GTDC1 transcript variant 55 NR_164807.1:n.686= NR_164807.1:n.686C>T
GTDC1 transcript variant 37 NM_001376323.2:c.462= NM_001376323.2:c.462C>T
GTDC1 transcript variant 37 NM_001376323.1:c.462= NM_001376323.1:c.462C>T
GTDC1 transcript variant 48 NR_164800.2:n.746= NR_164800.2:n.746C>T
GTDC1 transcript variant 48 NR_164800.1:n.746= NR_164800.1:n.746C>T
GTDC1 transcript variant 40 NM_001376326.2:c.462= NM_001376326.2:c.462C>T
GTDC1 transcript variant 40 NM_001376326.1:c.462= NM_001376326.1:c.462C>T
GTDC1 transcript variant 39 NM_001376325.2:c.462= NM_001376325.2:c.462C>T
GTDC1 transcript variant 39 NM_001376325.1:c.462= NM_001376325.1:c.462C>T
GTDC1 transcript variant 52 NR_164804.2:n.686= NR_164804.2:n.686C>T
GTDC1 transcript variant 52 NR_164804.1:n.686= NR_164804.1:n.686C>T
GTDC1 transcript variant 41 NM_001376327.2:c.462= NM_001376327.2:c.462C>T
GTDC1 transcript variant 41 NM_001376327.1:c.462= NM_001376327.1:c.462C>T
GTDC1 transcript variant 11 NM_001354353.2:c.462= NM_001354353.2:c.462C>T
GTDC1 transcript variant 11 NM_001354353.1:c.462= NM_001354353.1:c.462C>T
GTDC1 transcript variant 45 NM_001376331.2:c.462= NM_001376331.2:c.462C>T
GTDC1 transcript variant 45 NM_001376331.1:c.462= NM_001376331.1:c.462C>T
GTDC1 transcript variant 46 NM_001376332.2:c.462= NM_001376332.2:c.462C>T
GTDC1 transcript variant 46 NM_001376332.1:c.462= NM_001376332.1:c.462C>T
GTDC1 transcript variant 14 NM_001354356.2:c.462= NM_001354356.2:c.462C>T
GTDC1 transcript variant 14 NM_001354356.1:c.462= NM_001354356.1:c.462C>T
GTDC1 transcript variant 6 NM_001284235.2:c.462= NM_001284235.2:c.462C>T
GTDC1 transcript variant 6 NM_001284235.1:c.462= NM_001284235.1:c.462C>T
GTDC1 transcript variant X4 XM_047445844.1:c.489= XM_047445844.1:c.489C>T
GTDC1 transcript variant X6 XM_047445845.1:c.366= XM_047445845.1:c.366C>T
GTDC1 transcript variant X2 XM_047445842.1:c.489= XM_047445842.1:c.489C>T
GTDC1 transcript variant X3 XM_047445843.1:c.489= XM_047445843.1:c.489C>T
GTDC1 transcript variant X1 XM_047445841.1:c.489= XM_047445841.1:c.489C>T
GTDC1 transcript variant X9 XM_047445846.1:c.75= XM_047445846.1:c.75C>T
GTDC1 transcript variant 44 NM_001376330.1:c.462= NM_001376330.1:c.462C>T
GTDC1 transcript variant 18 NM_001354361.1:c.462= NM_001354361.1:c.462C>T
GTDC1 transcript variant 16 NM_001354358.1:c.462= NM_001354358.1:c.462C>T
GTDC1 transcript variant 42 NM_001376328.1:c.462= NM_001376328.1:c.462C>T
tRNA-queuosine alpha-mannosyltransferase isoform b NP_078935.2:p.Ser154= NP_078935.2:p.Ser154=
tRNA-queuosine alpha-mannosyltransferase isoform a NP_001158101.1:p.Ser154= NP_001158101.1:p.Ser154=
tRNA-queuosine alpha-mannosyltransferase isoform a NP_001006637.1:p.Ser154= NP_001006637.1:p.Ser154=
tRNA-queuosine alpha-mannosyltransferase isoform X2 XP_011510157.1:p.Ser154= XP_011510157.1:p.Ser154=
tRNA-queuosine alpha-mannosyltransferase isoform X3 XP_011510158.1:p.Ser122= XP_011510158.1:p.Ser122=
tRNA-queuosine alpha-mannosyltransferase isoform c NP_001271162.1:p.Ser154= NP_001271162.1:p.Ser154=
tRNA-queuosine alpha-mannosyltransferase isoform f NP_001271167.1:p.Ser122= NP_001271167.1:p.Ser122=
tRNA-queuosine alpha-mannosyltransferase isoform h NP_001341291.1:p.Ser154= NP_001341291.1:p.Ser154=
tRNA-queuosine alpha-mannosyltransferase isoform d NP_001271163.1:p.Ser25= NP_001271163.1:p.Ser25=
tRNA-queuosine alpha-mannosyltransferase isoform a NP_001363244.1:p.Ser154= NP_001363244.1:p.Ser154=
tRNA-queuosine alpha-mannosyltransferase isoform d NP_001341280.1:p.Ser25= NP_001341280.1:p.Ser25=
tRNA-queuosine alpha-mannosyltransferase isoform c NP_001363247.1:p.Ser154= NP_001363247.1:p.Ser154=
tRNA-queuosine alpha-mannosyltransferase isoform b NP_001363253.1:p.Ser154= NP_001363253.1:p.Ser154=
tRNA-queuosine alpha-mannosyltransferase isoform c NP_001363248.1:p.Ser154= NP_001363248.1:p.Ser154=
tRNA-queuosine alpha-mannosyltransferase isoform a NP_001363239.1:p.Ser154= NP_001363239.1:p.Ser154=
tRNA-queuosine alpha-mannosyltransferase isoform a NP_001363236.1:p.Ser154= NP_001363236.1:p.Ser154=
tRNA-queuosine alpha-mannosyltransferase isoform j NP_001363235.1:p.Ser154= NP_001363235.1:p.Ser154=
tRNA-queuosine alpha-mannosyltransferase isoform a NP_001363240.1:p.Ser154= NP_001363240.1:p.Ser154=
tRNA-queuosine alpha-mannosyltransferase isoform h NP_001341281.1:p.Ser154= NP_001341281.1:p.Ser154=
tRNA-queuosine alpha-mannosyltransferase isoform a NP_001363237.1:p.Ser154= NP_001363237.1:p.Ser154=
tRNA-queuosine alpha-mannosyltransferase isoform a NP_001363238.1:p.Ser154= NP_001363238.1:p.Ser154=
tRNA-queuosine alpha-mannosyltransferase isoform a NP_001341283.1:p.Ser154= NP_001341283.1:p.Ser154=
tRNA-queuosine alpha-mannosyltransferase isoform a NP_001363243.1:p.Ser154= NP_001363243.1:p.Ser154=
tRNA-queuosine alpha-mannosyltransferase isoform X3 XP_024308913.1:p.Ser122= XP_024308913.1:p.Ser122=
tRNA-queuosine alpha-mannosyltransferase isoform b NP_001363251.1:p.Ser154= NP_001363251.1:p.Ser154=
tRNA-queuosine alpha-mannosyltransferase isoform l NP_001363246.1:p.Ser154= NP_001363246.1:p.Ser154=
tRNA-queuosine alpha-mannosyltransferase isoform a NP_001363241.1:p.Ser154= NP_001363241.1:p.Ser154=
tRNA-queuosine alpha-mannosyltransferase isoform k NP_001363245.1:p.Ser154= NP_001363245.1:p.Ser154=
tRNA-queuosine alpha-mannosyltransferase isoform c NP_001341289.1:p.Ser154= NP_001341289.1:p.Ser154=
tRNA-queuosine alpha-mannosyltransferase isoform a NP_001363242.1:p.Ser154= NP_001363242.1:p.Ser154=
tRNA-queuosine alpha-mannosyltransferase isoform b NP_001363249.1:p.Ser154= NP_001363249.1:p.Ser154=
tRNA-queuosine alpha-mannosyltransferase isoform b NP_001363250.1:p.Ser154= NP_001363250.1:p.Ser154=
tRNA-queuosine alpha-mannosyltransferase isoform b NP_001363252.1:p.Ser154= NP_001363252.1:p.Ser154=
tRNA-queuosine alpha-mannosyltransferase isoform h NP_001363255.1:p.Ser154= NP_001363255.1:p.Ser154=
tRNA-queuosine alpha-mannosyltransferase isoform h NP_001363254.1:p.Ser154= NP_001363254.1:p.Ser154=
tRNA-queuosine alpha-mannosyltransferase isoform h NP_001363256.1:p.Ser154= NP_001363256.1:p.Ser154=
tRNA-queuosine alpha-mannosyltransferase isoform i NP_001341282.1:p.Ser154= NP_001341282.1:p.Ser154=
tRNA-queuosine alpha-mannosyltransferase isoform m NP_001363260.1:p.Ser154= NP_001363260.1:p.Ser154=
tRNA-queuosine alpha-mannosyltransferase isoform n NP_001363261.1:p.Ser154= NP_001363261.1:p.Ser154=
tRNA-queuosine alpha-mannosyltransferase isoform e NP_001341285.1:p.Ser154= NP_001341285.1:p.Ser154=
tRNA-queuosine alpha-mannosyltransferase isoform e NP_001271164.1:p.Ser154= NP_001271164.1:p.Ser154=
tRNA-queuosine alpha-mannosyltransferase isoform X1 XP_047301800.1:p.Ser163= XP_047301800.1:p.Ser163=
tRNA-queuosine alpha-mannosyltransferase isoform X3 XP_047301801.1:p.Ser122= XP_047301801.1:p.Ser122=
tRNA-queuosine alpha-mannosyltransferase isoform X1 XP_047301798.1:p.Ser163= XP_047301798.1:p.Ser163=
tRNA-queuosine alpha-mannosyltransferase isoform X1 XP_047301799.1:p.Ser163= XP_047301799.1:p.Ser163=
tRNA-queuosine alpha-mannosyltransferase isoform X1 XP_047301797.1:p.Ser163= XP_047301797.1:p.Ser163=
tRNA-queuosine alpha-mannosyltransferase isoform X4 XP_047301802.1:p.Ser25= XP_047301802.1:p.Ser25=
tRNA-queuosine alpha-mannosyltransferase isoform e NP_001363259.1:p.Ser154= NP_001363259.1:p.Ser154=
tRNA-queuosine alpha-mannosyltransferase isoform a NP_001341290.1:p.Ser154= NP_001341290.1:p.Ser154=
tRNA-queuosine alpha-mannosyltransferase isoform e NP_001341287.1:p.Ser154= NP_001341287.1:p.Ser154=
tRNA-queuosine alpha-mannosyltransferase isoform h NP_001363257.1:p.Ser154= NP_001363257.1:p.Ser154=
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#.

2 SubSNP, 3 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss4052347788 Apr 27, 2021 (155)
2 TOPMED ss4527158363 Apr 27, 2021 (155)
3 gnomAD - Genomes NC_000002.12 - 144141941 Apr 27, 2021 (155)
4 TopMed NC_000002.12 - 144141941 Apr 27, 2021 (155)
5 ALFA NC_000002.12 - 144141941 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
76435361, 330981242, 12100803759, ss4052347788, ss4527158363 NC_000002.12:144141940:G:A NC_000002.12:144141940:G:A (self)
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 rs1456802789

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