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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.

rs1471536167

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr15:49329261-49329266 (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
dupTTTG
Variation Type
Indel Insertion and Deletion
Frequency
dupTTTG=0.000019 (5/264690, TOPMED)
dupTTTG=0.000007 (1/140234, GnomAD)
dupTTTG=0.00000 (0/11862, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
GALK2 : Non Coding Transcript Variant
FAM227B : Intron Variant
Publications
0 citations
Genomic View
See rs on genome

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

Release Version: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 11862 TGTTTG=1.00000 TGTTTGTTTG=0.00000 1.0 0.0 0.0 N/A
European Sub 7618 TGTTTG=1.0000 TGTTTGTTTG=0.0000 1.0 0.0 0.0 N/A
African Sub 2816 TGTTTG=1.0000 TGTTTGTTTG=0.0000 1.0 0.0 0.0 N/A
African Others Sub 108 TGTTTG=1.000 TGTTTGTTTG=0.000 1.0 0.0 0.0 N/A
African American Sub 2708 TGTTTG=1.0000 TGTTTGTTTG=0.0000 1.0 0.0 0.0 N/A
Asian Sub 108 TGTTTG=1.000 TGTTTGTTTG=0.000 1.0 0.0 0.0 N/A
East Asian Sub 84 TGTTTG=1.00 TGTTTGTTTG=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 TGTTTG=1.00 TGTTTGTTTG=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 TGTTTG=1.000 TGTTTGTTTG=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 TGTTTG=1.000 TGTTTGTTTG=0.000 1.0 0.0 0.0 N/A
South Asian Sub 94 TGTTTG=1.00 TGTTTGTTTG=0.00 1.0 0.0 0.0 N/A
Other Sub 470 TGTTTG=1.000 TGTTTGTTTG=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 -

No frequency provided

dupTTTG=0.000019
gnomAD - Genomes Global Study-wide 140234 -

No frequency provided

dupTTTG=0.000007
gnomAD - Genomes European Sub 75956 -

No frequency provided

dupTTTG=0.00001
gnomAD - Genomes African Sub 42026 -

No frequency provided

dupTTTG=0.00000
gnomAD - Genomes American Sub 13648 -

No frequency provided

dupTTTG=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3320 -

No frequency provided

dupTTTG=0.0000
gnomAD - Genomes East Asian Sub 3132 -

No frequency provided

dupTTTG=0.0000
gnomAD - Genomes Other Sub 2152 -

No frequency provided

dupTTTG=0.0000
Allele Frequency Aggregator Total Global 11862 TGTTTG=1.00000 dupTTTG=0.00000
Allele Frequency Aggregator European Sub 7618 TGTTTG=1.0000 dupTTTG=0.0000
Allele Frequency Aggregator African Sub 2816 TGTTTG=1.0000 dupTTTG=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 TGTTTG=1.000 dupTTTG=0.000
Allele Frequency Aggregator Other Sub 470 TGTTTG=1.000 dupTTTG=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 TGTTTG=1.000 dupTTTG=0.000
Allele Frequency Aggregator Asian Sub 108 TGTTTG=1.000 dupTTTG=0.000
Allele Frequency Aggregator South Asian Sub 94 TGTTTG=1.00 dupTTTG=0.00
Help

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

Genomic Placements
Sequence name Change
GRCh38.p14 chr 15 NC_000015.10:g.49329263_49329266dup
GRCh37.p13 chr 15 NC_000015.9:g.49621460_49621463dup
Gene: FAM227B, family with sequence similarity 227 member B (minus strand)
Molecule type Change Amino acid[Codon] SO Term
FAM227B transcript variant 1 NM_152647.3:c.1420-589_14…

NM_152647.3:c.1420-589_1420-586dup

N/A Intron Variant
FAM227B transcript variant 2 NM_001330293.2:c. N/A Genic Downstream Transcript Variant
FAM227B transcript variant X2 XM_005254213.4:c.1495-589…

XM_005254213.4:c.1495-589_1495-586dup

N/A Intron Variant
FAM227B transcript variant X1 XM_005254214.4:c.1495-589…

XM_005254214.4:c.1495-589_1495-586dup

N/A Intron Variant
FAM227B transcript variant X5 XM_005254215.4:c.1459-589…

XM_005254215.4:c.1459-589_1459-586dup

N/A Intron Variant
FAM227B transcript variant X6 XM_005254216.4:c.1393-589…

XM_005254216.4:c.1393-589_1393-586dup

N/A Intron Variant
FAM227B transcript variant X4 XM_006720423.4:c.1495-589…

XM_006720423.4:c.1495-589_1495-586dup

N/A Intron Variant
FAM227B transcript variant X8 XM_006720426.3:c.1354-589…

XM_006720426.3:c.1354-589_1354-586dup

N/A Intron Variant
FAM227B transcript variant X16 XM_011521320.2:c.1093-589…

XM_011521320.2:c.1093-589_1093-586dup

N/A Intron Variant
FAM227B transcript variant X18 XM_011521322.2:c.1057-589…

XM_011521322.2:c.1057-589_1057-586dup

N/A Intron Variant
FAM227B transcript variant X10 XM_017021990.2:c.1252-589…

XM_017021990.2:c.1252-589_1252-586dup

N/A Intron Variant
FAM227B transcript variant X12 XM_017021994.2:c.1153-589…

XM_017021994.2:c.1153-589_1153-586dup

N/A Intron Variant
FAM227B transcript variant X15 XM_017021996.2:c.1093-589…

XM_017021996.2:c.1093-589_1093-586dup

N/A Intron Variant
FAM227B transcript variant X3 XM_047432220.1:c.1495-589…

XM_047432220.1:c.1495-589_1495-586dup

N/A Intron Variant
FAM227B transcript variant X7 XM_047432221.1:c.1357-589…

XM_047432221.1:c.1357-589_1357-586dup

N/A Intron Variant
FAM227B transcript variant X9 XM_047432222.1:c.1354-589…

XM_047432222.1:c.1354-589_1354-586dup

N/A Intron Variant
FAM227B transcript variant X11 XM_047432223.1:c.1246-589…

XM_047432223.1:c.1246-589_1246-586dup

N/A Intron Variant
FAM227B transcript variant X13 XM_047432224.1:c.1153-589…

XM_047432224.1:c.1153-589_1153-586dup

N/A Intron Variant
FAM227B transcript variant X17 XM_011521321.3:c. N/A Genic Downstream Transcript Variant
FAM227B transcript variant X23 XM_011521324.2:c. N/A Genic Downstream Transcript Variant
FAM227B transcript variant X22 XM_011521325.4:c. N/A Genic Downstream Transcript Variant
FAM227B transcript variant X14 XM_017021995.2:c. N/A Genic Downstream Transcript Variant
FAM227B transcript variant X24 XM_024449863.2:c. N/A Genic Downstream Transcript Variant
FAM227B transcript variant X26 XM_024449865.2:c. N/A Genic Downstream Transcript Variant
FAM227B transcript variant X19 XM_047432225.1:c. N/A Genic Downstream Transcript Variant
FAM227B transcript variant X20 XM_047432226.1:c. N/A Genic Downstream Transcript Variant
FAM227B transcript variant X21 XM_047432227.1:c. N/A Genic Downstream Transcript Variant
FAM227B transcript variant X25 XM_047432228.1:c. N/A Genic Downstream Transcript Variant
Gene: GALK2, galactokinase 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
GALK2 transcript variant 4 NM_001289031.1:c.*1102_*1…

NM_001289031.1:c.*1102_*1107=

N/A 3 Prime UTR Variant
GALK2 transcript variant 5 NM_001352047.1:c.*567_*57…

NM_001352047.1:c.*567_*572=

N/A 3 Prime UTR Variant
GALK2 transcript variant 1 NM_002044.4:c.*1102_*1107= N/A 3 Prime UTR Variant
GALK2 transcript variant 3 NM_001289030.2:c.*1102_*1…

NM_001289030.2:c.*1102_*1107=

N/A 3 Prime UTR Variant
GALK2 transcript variant 2 NM_001001556.3:c.*1102_*1…

NM_001001556.3:c.*1102_*1107=

N/A 3 Prime UTR Variant
GALK2 transcript variant 6 NM_001352048.2:c.*567_*57…

NM_001352048.2:c.*567_*572=

N/A 3 Prime UTR Variant
GALK2 transcript variant 7 NR_147895.2:n.2603_2606dup N/A Non Coding Transcript Variant
GALK2 transcript variant X5 XM_024449892.2:c.1276+113…

XM_024449892.2:c.1276+1133_1276+1136dup

N/A Intron Variant
GALK2 transcript variant X7 XM_024449894.2:c.1177+113…

XM_024449894.2:c.1177+1133_1177+1136dup

N/A Intron Variant
GALK2 transcript variant X1 XM_047432347.1:c.1393+113…

XM_047432347.1:c.1393+1133_1393+1136dup

N/A Intron Variant
GALK2 transcript variant X2 XM_047432348.1:c.1393+113…

XM_047432348.1:c.1393+1133_1393+1136dup

N/A Intron Variant
GALK2 transcript variant X8 XM_047432351.1:c.1078+113…

XM_047432351.1:c.1078+1133_1078+1136dup

N/A Intron Variant
GALK2 transcript variant X9 XM_047432352.1:c.1078+113…

XM_047432352.1:c.1078+1133_1078+1136dup

N/A Intron Variant
GALK2 transcript variant X3 XM_006720461.5:c.*567_*57…

XM_006720461.5:c.*567_*572=

N/A 3 Prime UTR Variant
GALK2 transcript variant X4 XM_047432349.1:c.*567_*57…

XM_047432349.1:c.*567_*572=

N/A 3 Prime UTR Variant
GALK2 transcript variant X6 XM_047432350.1:c.*567_*57…

XM_047432350.1:c.*567_*572=

N/A 3 Prime UTR Variant
GALK2 transcript variant X10 XM_047432353.1:c.*1102_*1…

XM_047432353.1:c.*1102_*1107=

N/A 3 Prime UTR Variant
GALK2 transcript variant X11 XM_047432354.1:c. N/A Genic Downstream 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 TGTTTG= dupTTTG
GRCh38.p14 chr 15 NC_000015.10:g.49329261_49329266= NC_000015.10:g.49329263_49329266dup
GRCh37.p13 chr 15 NC_000015.9:g.49621458_49621463= NC_000015.9:g.49621460_49621463dup
GALK2 transcript variant X3 XM_006720461.5:c.*567_*572= XM_006720461.5:c.*569_*572dup
GALK2 transcript variant X2 XM_006720461.4:c.*567_*572= XM_006720461.4:c.*569_*572dup
GALK2 transcript variant X2 XM_006720461.3:c.*567_*572= XM_006720461.3:c.*569_*572dup
GALK2 transcript variant X2 XM_006720461.2:c.*567_*572= XM_006720461.2:c.*569_*572dup
GALK2 transcript variant X7 XM_006720461.1:c.*567_*572= XM_006720461.1:c.*569_*572dup
GALK2 transcript variant 1 NM_002044.4:c.*1102_*1107= NM_002044.4:c.*1104_*1107dup
GALK2 transcript variant 1 NM_002044.3:c.*1102_*1107= NM_002044.3:c.*1104_*1107dup
GALK2 transcript variant 1 NM_002044.2:c.*1102_*1107= NM_002044.2:c.*1104_*1107dup
GALK2 transcript variant 2 NM_001001556.3:c.*1102_*1107= NM_001001556.3:c.*1104_*1107dup
GALK2 transcript variant 2 NM_001001556.2:c.*1102_*1107= NM_001001556.2:c.*1104_*1107dup
GALK2 transcript variant 2 NM_001001556.1:c.*1102_*1107= NM_001001556.1:c.*1104_*1107dup
GALK2 transcript variant 3 NM_001289030.2:c.*1102_*1107= NM_001289030.2:c.*1104_*1107dup
GALK2 transcript variant 3 NM_001289030.1:c.*1102_*1107= NM_001289030.1:c.*1104_*1107dup
GALK2 transcript variant 7 NR_147895.2:n.2601_2606= NR_147895.2:n.2603_2606dup
GALK2 transcript variant 7 NR_147895.1:n.2832_2837= NR_147895.1:n.2834_2837dup
GALK2 transcript variant 6 NM_001352048.2:c.*567_*572= NM_001352048.2:c.*569_*572dup
GALK2 transcript variant 6 NM_001352048.1:c.*567_*572= NM_001352048.1:c.*569_*572dup
GALK2 transcript variant X10 XM_047432353.1:c.*1102_*1107= XM_047432353.1:c.*1104_*1107dup
GALK2 transcript variant 4 NM_001289031.1:c.*1102_*1107= NM_001289031.1:c.*1104_*1107dup
GALK2 transcript variant 5 NM_001352047.1:c.*567_*572= NM_001352047.1:c.*569_*572dup
GALK2 transcript variant X6 XM_047432350.1:c.*567_*572= XM_047432350.1:c.*569_*572dup
GALK2 transcript variant X4 XM_047432349.1:c.*567_*572= XM_047432349.1:c.*569_*572dup
FAM227B transcript variant 1 NM_152647.2:c.1420-586= NM_152647.2:c.1420-589_1420-586dup
FAM227B transcript variant 1 NM_152647.3:c.1420-586= NM_152647.3:c.1420-589_1420-586dup
FAM227B transcript variant X1 XM_005254213.1:c.1495-586= XM_005254213.1:c.1495-589_1495-586dup
FAM227B transcript variant X2 XM_005254213.4:c.1495-586= XM_005254213.4:c.1495-589_1495-586dup
FAM227B transcript variant X2 XM_005254214.1:c.1495-586= XM_005254214.1:c.1495-589_1495-586dup
FAM227B transcript variant X1 XM_005254214.4:c.1495-586= XM_005254214.4:c.1495-589_1495-586dup
FAM227B transcript variant X3 XM_005254215.1:c.1459-586= XM_005254215.1:c.1459-589_1459-586dup
FAM227B transcript variant X5 XM_005254215.4:c.1459-586= XM_005254215.4:c.1459-589_1459-586dup
FAM227B transcript variant X4 XM_005254216.1:c.1393-586= XM_005254216.1:c.1393-589_1393-586dup
FAM227B transcript variant X6 XM_005254216.4:c.1393-586= XM_005254216.4:c.1393-589_1393-586dup
FAM227B transcript variant X5 XM_005254217.1:c.1246-586= XM_005254217.1:c.1246-589_1246-586dup
FAM227B transcript variant X6 XM_005254218.1:c.1093-586= XM_005254218.1:c.1093-589_1093-586dup
FAM227B transcript variant X7 XM_005254219.1:c.*38-586= XM_005254219.1:c.*38-589_*38-586dup
GALK2 transcript variant X1 XM_005254279.1:c.1348+1131= XM_005254279.1:c.1348+1133_1348+1136dup
GALK2 transcript variant X2 XM_005254280.1:c.1315+1131= XM_005254280.1:c.1315+1133_1315+1136dup
GALK2 transcript variant X3 XM_005254281.1:c.1276+1131= XM_005254281.1:c.1276+1133_1276+1136dup
GALK2 transcript variant X6 XM_005254284.1:c.1216+1131= XM_005254284.1:c.1216+1133_1216+1136dup
FAM227B transcript variant X4 XM_006720423.4:c.1495-586= XM_006720423.4:c.1495-589_1495-586dup
FAM227B transcript variant X8 XM_006720426.3:c.1354-586= XM_006720426.3:c.1354-589_1354-586dup
FAM227B transcript variant X16 XM_011521320.2:c.1093-586= XM_011521320.2:c.1093-589_1093-586dup
FAM227B transcript variant X18 XM_011521322.2:c.1057-586= XM_011521322.2:c.1057-589_1057-586dup
FAM227B transcript variant X10 XM_017021990.2:c.1252-586= XM_017021990.2:c.1252-589_1252-586dup
FAM227B transcript variant X12 XM_017021994.2:c.1153-586= XM_017021994.2:c.1153-589_1153-586dup
FAM227B transcript variant X15 XM_017021996.2:c.1093-586= XM_017021996.2:c.1093-589_1093-586dup
GALK2 transcript variant X5 XM_024449892.2:c.1276+1131= XM_024449892.2:c.1276+1133_1276+1136dup
GALK2 transcript variant X7 XM_024449894.2:c.1177+1131= XM_024449894.2:c.1177+1133_1177+1136dup
FAM227B transcript variant X3 XM_047432220.1:c.1495-586= XM_047432220.1:c.1495-589_1495-586dup
FAM227B transcript variant X7 XM_047432221.1:c.1357-586= XM_047432221.1:c.1357-589_1357-586dup
FAM227B transcript variant X9 XM_047432222.1:c.1354-586= XM_047432222.1:c.1354-589_1354-586dup
FAM227B transcript variant X11 XM_047432223.1:c.1246-586= XM_047432223.1:c.1246-589_1246-586dup
FAM227B transcript variant X13 XM_047432224.1:c.1153-586= XM_047432224.1:c.1153-589_1153-586dup
GALK2 transcript variant X1 XM_047432347.1:c.1393+1131= XM_047432347.1:c.1393+1133_1393+1136dup
GALK2 transcript variant X2 XM_047432348.1:c.1393+1131= XM_047432348.1:c.1393+1133_1393+1136dup
GALK2 transcript variant X8 XM_047432351.1:c.1078+1131= XM_047432351.1:c.1078+1133_1078+1136dup
GALK2 transcript variant X9 XM_047432352.1:c.1078+1131= XM_047432352.1:c.1078+1133_1078+1136dup
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 ss4288455892 Apr 26, 2021 (155)
2 TOPMED ss4990729157 Apr 26, 2021 (155)
3 gnomAD - Genomes NC_000015.10 - 49329261 Apr 26, 2021 (155)
4 TopMed NC_000015.10 - 49329261 Apr 26, 2021 (155)
5 ALFA NC_000015.10 - 49329261 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
468524052, 206274817, ss4288455892, ss4990729157 NC_000015.10:49329260::TGTT NC_000015.10:49329260:TGTTTG:TGTTT…

NC_000015.10:49329260:TGTTTG:TGTTTGTTTG

(self)
9148463615 NC_000015.10:49329260:TGTTTG:TGTTT…

NC_000015.10:49329260:TGTTTG:TGTTTGTTTG

NC_000015.10:49329260:TGTTTG:TGTTT…

NC_000015.10:49329260:TGTTTG:TGTTTGTTTG

(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 rs1471536167

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