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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.

rs762888521

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr15:49328650-49328657 (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
delTCTC / delTC
Variation Type
Indel Insertion and Deletion
Frequency
delTCTC=0.000032 (6/189050, GnomAD_exome)
delTCTC=0.00007 (3/44646, ExAC)
delTCTC=0.00014 (4/28258, 14KJPN) (+ 3 more)
delTCTC=0.00018 (3/16760, 8.3KJPN)
delTCTC=0.00000 (0/14050, ALFA)
delTC=0.00000 (0/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
FAM227B : Frameshift Variant
GALK2 : Non Coding Transcript 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 14050 TCTCTCTC=1.00000 TCTC=0.00000, TCTCTC=0.00000
European Sub 9690 TCTCTCTC=1.0000 TCTC=0.0000, TCTCTC=0.0000
African Sub 2898 TCTCTCTC=1.0000 TCTC=0.0000, TCTCTC=0.0000
African Others Sub 114 TCTCTCTC=1.000 TCTC=0.000, TCTCTC=0.000
African American Sub 2784 TCTCTCTC=1.0000 TCTC=0.0000, TCTCTC=0.0000
Asian Sub 112 TCTCTCTC=1.000 TCTC=0.000, TCTCTC=0.000
East Asian Sub 86 TCTCTCTC=1.00 TCTC=0.00, TCTCTC=0.00
Other Asian Sub 26 TCTCTCTC=1.00 TCTC=0.00, TCTCTC=0.00
Latin American 1 Sub 146 TCTCTCTC=1.000 TCTC=0.000, TCTCTC=0.000
Latin American 2 Sub 610 TCTCTCTC=1.000 TCTC=0.000, TCTCTC=0.000
South Asian Sub 98 TCTCTCTC=1.00 TCTC=0.00, TCTCTC=0.00
Other Sub 496 TCTCTCTC=1.000 TCTC=0.000, TCTCTC=0.000


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 189050 (TC)4=0.999968 delTCTC=0.000032
gnomAD - Exomes European Sub 95208 (TC)4=1.00000 delTCTC=0.00000
gnomAD - Exomes Asian Sub 39982 (TC)4=0.99987 delTCTC=0.00013
gnomAD - Exomes American Sub 26700 (TC)4=0.99996 delTCTC=0.00004
gnomAD - Exomes African Sub 12966 (TC)4=1.00000 delTCTC=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 9130 (TC)4=1.0000 delTCTC=0.0000
gnomAD - Exomes Other Sub 5064 (TC)4=1.0000 delTCTC=0.0000
ExAC Global Study-wide 44646 (TC)4=0.99993 delTCTC=0.00007
ExAC Europe Sub 24108 (TC)4=1.00000 delTCTC=0.00000
ExAC Asian Sub 12700 (TC)4=0.99976 delTCTC=0.00024
ExAC African Sub 5710 (TC)4=1.0000 delTCTC=0.0000
ExAC American Sub 1712 (TC)4=1.0000 delTCTC=0.0000
ExAC Other Sub 416 (TC)4=1.000 delTCTC=0.000
14KJPN JAPANESE Study-wide 28258 (TC)4=0.99986 delTCTC=0.00014
8.3KJPN JAPANESE Study-wide 16760 (TC)4=0.99982 delTCTC=0.00018
Allele Frequency Aggregator Total Global 14050 (TC)4=1.00000 delTCTC=0.00000, delTC=0.00000
Allele Frequency Aggregator European Sub 9690 (TC)4=1.0000 delTCTC=0.0000, delTC=0.0000
Allele Frequency Aggregator African Sub 2898 (TC)4=1.0000 delTCTC=0.0000, delTC=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 (TC)4=1.000 delTCTC=0.000, delTC=0.000
Allele Frequency Aggregator Other Sub 496 (TC)4=1.000 delTCTC=0.000, delTC=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 (TC)4=1.000 delTCTC=0.000, delTC=0.000
Allele Frequency Aggregator Asian Sub 112 (TC)4=1.000 delTCTC=0.000, delTC=0.000
Allele Frequency Aggregator South Asian Sub 98 (TC)4=1.00 delTCTC=0.00, delTC=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.49328650TC[2]
GRCh38.p14 chr 15 NC_000015.10:g.49328650TC[3]
GRCh37.p13 chr 15 NC_000015.9:g.49620847TC[2]
GRCh37.p13 chr 15 NC_000015.9:g.49620847TC[3]
Gene: GALK2, galactokinase 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
GALK2 transcript variant 5 NM_001352047.1:c.962-16TC…

NM_001352047.1:c.962-16TC[2]

N/A Intron Variant
GALK2 transcript variant 6 NM_001352048.2:c.962-16TC…

NM_001352048.2:c.962-16TC[2]

N/A Intron Variant
GALK2 transcript variant 4 NM_001289031.1:c.*491_*49…

NM_001289031.1:c.*491_*498=

N/A 3 Prime UTR Variant
GALK2 transcript variant 1 NM_002044.4:c.*491_*498= N/A 3 Prime UTR Variant
GALK2 transcript variant 3 NM_001289030.2:c.*491_*49…

NM_001289030.2:c.*491_*498=

N/A 3 Prime UTR Variant
GALK2 transcript variant 2 NM_001001556.3:c.*491_*49…

NM_001001556.3:c.*491_*498=

N/A 3 Prime UTR Variant
GALK2 transcript variant 7 NR_147895.2:n.1990TC[2] N/A Non Coding Transcript Variant
GALK2 transcript variant 7 NR_147895.2:n.1990TC[3] N/A Non Coding Transcript Variant
GALK2 transcript variant X3 XM_006720461.5:c.1349-16T…

XM_006720461.5:c.1349-16TC[2]

N/A Intron Variant
GALK2 transcript variant X5 XM_024449892.2:c.1276+520…

XM_024449892.2:c.1276+520TC[2]

N/A Intron Variant
GALK2 transcript variant X7 XM_024449894.2:c.1177+520…

XM_024449894.2:c.1177+520TC[2]

N/A Intron Variant
GALK2 transcript variant X1 XM_047432347.1:c.1393+520…

XM_047432347.1:c.1393+520TC[2]

N/A Intron Variant
GALK2 transcript variant X2 XM_047432348.1:c.1393+520…

XM_047432348.1:c.1393+520TC[2]

N/A Intron Variant
GALK2 transcript variant X4 XM_047432349.1:c.1316-16T…

XM_047432349.1:c.1316-16TC[2]

N/A Intron Variant
GALK2 transcript variant X6 XM_047432350.1:c.1277-16T…

XM_047432350.1:c.1277-16TC[2]

N/A Intron Variant
GALK2 transcript variant X8 XM_047432351.1:c.1078+520…

XM_047432351.1:c.1078+520TC[2]

N/A Intron Variant
GALK2 transcript variant X9 XM_047432352.1:c.1078+520…

XM_047432352.1:c.1078+520TC[2]

N/A Intron Variant
GALK2 transcript variant X10 XM_047432353.1:c.*491_*49…

XM_047432353.1:c.*491_*498=

N/A 3 Prime UTR Variant
GALK2 transcript variant X11 XM_047432354.1:c. N/A Genic Downstream Transcript Variant
Gene: FAM227B, family with sequence similarity 227 member B (minus strand)
Molecule type Change Amino acid[Codon] SO Term
FAM227B transcript variant 2 NM_001330293.2:c. N/A Genic Downstream Transcript Variant
FAM227B transcript variant 1 NM_152647.3:c.1442_1445del R [AGA] > N [AA] Coding Sequence Variant
protein FAM227B isoform 1 NP_689860.2:p.Arg481fs R (Arg) > N (Asn) Frameshift Variant
FAM227B transcript variant 1 NM_152647.3:c.1444_1445del E [GA] > M [A] Coding Sequence Variant
protein FAM227B isoform 1 NP_689860.2:p.Glu482fs E (Glu) > M (Met) Frameshift 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
FAM227B transcript variant X1 XM_005254214.4:c.1517_152…

XM_005254214.4:c.1517_1520del

R [AGA] > N [AA] Coding Sequence Variant
protein FAM227B isoform X1 XP_005254271.1:p.Arg506fs R (Arg) > N (Asn) Frameshift Variant
FAM227B transcript variant X1 XM_005254214.4:c.1519_152…

XM_005254214.4:c.1519_1520del

E [GA] > M [A] Coding Sequence Variant
protein FAM227B isoform X1 XP_005254271.1:p.Glu507fs E (Glu) > M (Met) Frameshift Variant
FAM227B transcript variant X2 XM_005254213.4:c.1517_152…

XM_005254213.4:c.1517_1520del

R [AGA] > N [AA] Coding Sequence Variant
protein FAM227B isoform X1 XP_005254270.1:p.Arg506fs R (Arg) > N (Asn) Frameshift Variant
FAM227B transcript variant X2 XM_005254213.4:c.1519_152…

XM_005254213.4:c.1519_1520del

E [GA] > M [A] Coding Sequence Variant
protein FAM227B isoform X1 XP_005254270.1:p.Glu507fs E (Glu) > M (Met) Frameshift Variant
FAM227B transcript variant X3 XM_047432220.1:c.1517_152…

XM_047432220.1:c.1517_1520del

R [AGA] > N [AA] Coding Sequence Variant
protein FAM227B isoform X1 XP_047288176.1:p.Arg506fs R (Arg) > N (Asn) Frameshift Variant
FAM227B transcript variant X3 XM_047432220.1:c.1519_152…

XM_047432220.1:c.1519_1520del

E [GA] > M [A] Coding Sequence Variant
protein FAM227B isoform X1 XP_047288176.1:p.Glu507fs E (Glu) > M (Met) Frameshift Variant
FAM227B transcript variant X4 XM_006720423.4:c.1517_152…

XM_006720423.4:c.1517_1520del

R [AGA] > N [AA] Coding Sequence Variant
protein FAM227B isoform X1 XP_006720486.1:p.Arg506fs R (Arg) > N (Asn) Frameshift Variant
FAM227B transcript variant X4 XM_006720423.4:c.1519_152…

XM_006720423.4:c.1519_1520del

E [GA] > M [A] Coding Sequence Variant
protein FAM227B isoform X1 XP_006720486.1:p.Glu507fs E (Glu) > M (Met) Frameshift Variant
FAM227B transcript variant X5 XM_005254215.4:c.1481_148…

XM_005254215.4:c.1481_1484del

R [AGA] > N [AA] Coding Sequence Variant
protein FAM227B isoform X2 XP_005254272.1:p.Arg494fs R (Arg) > N (Asn) Frameshift Variant
FAM227B transcript variant X5 XM_005254215.4:c.1483_148…

XM_005254215.4:c.1483_1484del

E [GA] > M [A] Coding Sequence Variant
protein FAM227B isoform X2 XP_005254272.1:p.Glu495fs E (Glu) > M (Met) Frameshift Variant
FAM227B transcript variant X6 XM_005254216.4:c.1415_141…

XM_005254216.4:c.1415_1418del

R [AGA] > N [AA] Coding Sequence Variant
protein FAM227B isoform X3 XP_005254273.1:p.Arg472fs R (Arg) > N (Asn) Frameshift Variant
FAM227B transcript variant X6 XM_005254216.4:c.1417_141…

XM_005254216.4:c.1417_1418del

E [GA] > M [A] Coding Sequence Variant
protein FAM227B isoform X3 XP_005254273.1:p.Glu473fs E (Glu) > M (Met) Frameshift Variant
FAM227B transcript variant X7 XM_047432221.1:c.1379_138…

XM_047432221.1:c.1379_1382del

R [AGA] > N [AA] Coding Sequence Variant
protein FAM227B isoform X4 XP_047288177.1:p.Arg460fs R (Arg) > N (Asn) Frameshift Variant
FAM227B transcript variant X7 XM_047432221.1:c.1381_138…

XM_047432221.1:c.1381_1382del

E [GA] > M [A] Coding Sequence Variant
protein FAM227B isoform X4 XP_047288177.1:p.Glu461fs E (Glu) > M (Met) Frameshift Variant
FAM227B transcript variant X8 XM_006720426.3:c.1376_137…

XM_006720426.3:c.1376_1379del

R [AGA] > N [AA] Coding Sequence Variant
protein FAM227B isoform X5 XP_006720489.1:p.Arg459fs R (Arg) > N (Asn) Frameshift Variant
FAM227B transcript variant X8 XM_006720426.3:c.1378_137…

XM_006720426.3:c.1378_1379del

E [GA] > M [A] Coding Sequence Variant
protein FAM227B isoform X5 XP_006720489.1:p.Glu460fs E (Glu) > M (Met) Frameshift Variant
FAM227B transcript variant X9 XM_047432222.1:c.1376_137…

XM_047432222.1:c.1376_1379del

R [AGA] > N [AA] Coding Sequence Variant
protein FAM227B isoform X5 XP_047288178.1:p.Arg459fs R (Arg) > N (Asn) Frameshift Variant
FAM227B transcript variant X9 XM_047432222.1:c.1378_137…

XM_047432222.1:c.1378_1379del

E [GA] > M [A] Coding Sequence Variant
protein FAM227B isoform X5 XP_047288178.1:p.Glu460fs E (Glu) > M (Met) Frameshift Variant
FAM227B transcript variant X10 XM_017021990.2:c.1274_127…

XM_017021990.2:c.1274_1277del

R [AGA] > N [AA] Coding Sequence Variant
protein FAM227B isoform X6 XP_016877479.1:p.Arg425fs R (Arg) > N (Asn) Frameshift Variant
FAM227B transcript variant X10 XM_017021990.2:c.1276_127…

XM_017021990.2:c.1276_1277del

E [GA] > M [A] Coding Sequence Variant
protein FAM227B isoform X6 XP_016877479.1:p.Glu426fs E (Glu) > M (Met) Frameshift Variant
FAM227B transcript variant X11 XM_047432223.1:c.1268_127…

XM_047432223.1:c.1268_1271del

R [AGA] > N [AA] Coding Sequence Variant
protein FAM227B isoform X7 XP_047288179.1:p.Arg423fs R (Arg) > N (Asn) Frameshift Variant
FAM227B transcript variant X11 XM_047432223.1:c.1270_127…

XM_047432223.1:c.1270_1271del

E [GA] > M [A] Coding Sequence Variant
protein FAM227B isoform X7 XP_047288179.1:p.Glu424fs E (Glu) > M (Met) Frameshift Variant
FAM227B transcript variant X12 XM_017021994.2:c.1175_117…

XM_017021994.2:c.1175_1178del

R [AGA] > N [AA] Coding Sequence Variant
protein FAM227B isoform X8 XP_016877483.1:p.Arg392fs R (Arg) > N (Asn) Frameshift Variant
FAM227B transcript variant X12 XM_017021994.2:c.1177_117…

XM_017021994.2:c.1177_1178del

E [GA] > M [A] Coding Sequence Variant
protein FAM227B isoform X8 XP_016877483.1:p.Glu393fs E (Glu) > M (Met) Frameshift Variant
FAM227B transcript variant X13 XM_047432224.1:c.1175_117…

XM_047432224.1:c.1175_1178del

R [AGA] > N [AA] Coding Sequence Variant
protein FAM227B isoform X8 XP_047288180.1:p.Arg392fs R (Arg) > N (Asn) Frameshift Variant
FAM227B transcript variant X13 XM_047432224.1:c.1177_117…

XM_047432224.1:c.1177_1178del

E [GA] > M [A] Coding Sequence Variant
protein FAM227B isoform X8 XP_047288180.1:p.Glu393fs E (Glu) > M (Met) Frameshift Variant
FAM227B transcript variant X15 XM_017021996.2:c.1115_111…

XM_017021996.2:c.1115_1118del

R [AGA] > N [AA] Coding Sequence Variant
protein FAM227B isoform X10 XP_016877485.1:p.Arg372fs R (Arg) > N (Asn) Frameshift Variant
FAM227B transcript variant X15 XM_017021996.2:c.1117_111…

XM_017021996.2:c.1117_1118del

E [GA] > M [A] Coding Sequence Variant
protein FAM227B isoform X10 XP_016877485.1:p.Glu373fs E (Glu) > M (Met) Frameshift Variant
FAM227B transcript variant X16 XM_011521320.2:c.1115_111…

XM_011521320.2:c.1115_1118del

R [AGA] > N [AA] Coding Sequence Variant
protein FAM227B isoform X10 XP_011519622.1:p.Arg372fs R (Arg) > N (Asn) Frameshift Variant
FAM227B transcript variant X16 XM_011521320.2:c.1117_111…

XM_011521320.2:c.1117_1118del

E [GA] > M [A] Coding Sequence Variant
protein FAM227B isoform X10 XP_011519622.1:p.Glu373fs E (Glu) > M (Met) Frameshift Variant
FAM227B transcript variant X18 XM_011521322.2:c.1079_108…

XM_011521322.2:c.1079_1082del

R [AGA] > N [AA] Coding Sequence Variant
protein FAM227B isoform X12 XP_011519624.1:p.Arg360fs R (Arg) > N (Asn) Frameshift Variant
FAM227B transcript variant X18 XM_011521322.2:c.1081_108…

XM_011521322.2:c.1081_1082del

E [GA] > M [A] Coding Sequence Variant
protein FAM227B isoform X12 XP_011519624.1:p.Glu361fs E (Glu) > M (Met) Frameshift 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 (TC)4= delTCTC delTC
GRCh38.p14 chr 15 NC_000015.10:g.49328650_49328657= NC_000015.10:g.49328650TC[2] NC_000015.10:g.49328650TC[3]
GRCh37.p13 chr 15 NC_000015.9:g.49620847_49620854= NC_000015.9:g.49620847TC[2] NC_000015.9:g.49620847TC[3]
GALK2 transcript variant 1 NM_002044.4:c.*491_*498= NM_002044.4:c.*491TC[2] NM_002044.4:c.*491TC[3]
GALK2 transcript variant 1 NM_002044.3:c.*491_*498= NM_002044.3:c.*491TC[2] NM_002044.3:c.*491TC[3]
GALK2 transcript variant 1 NM_002044.2:c.*491_*498= NM_002044.2:c.*491TC[2] NM_002044.2:c.*491TC[3]
FAM227B transcript variant X2 XM_005254213.4:c.1513_1520= XM_005254213.4:c.1517_1520del XM_005254213.4:c.1519_1520del
FAM227B transcript variant X1 XM_005254213.3:c.1513_1520= XM_005254213.3:c.1517_1520del XM_005254213.3:c.1519_1520del
FAM227B transcript variant X1 XM_005254213.2:c.1513_1520= XM_005254213.2:c.1517_1520del XM_005254213.2:c.1519_1520del
FAM227B transcript variant X1 XM_005254213.1:c.1513_1520= XM_005254213.1:c.1517_1520del XM_005254213.1:c.1519_1520del
FAM227B transcript variant X4 XM_006720423.4:c.1513_1520= XM_006720423.4:c.1517_1520del XM_006720423.4:c.1519_1520del
FAM227B transcript variant X4 XM_006720423.3:c.1513_1520= XM_006720423.3:c.1517_1520del XM_006720423.3:c.1519_1520del
FAM227B transcript variant X4 XM_006720423.2:c.1513_1520= XM_006720423.2:c.1517_1520del XM_006720423.2:c.1519_1520del
FAM227B transcript variant X9 XM_006720423.1:c.1513_1520= XM_006720423.1:c.1517_1520del XM_006720423.1:c.1519_1520del
FAM227B transcript variant X5 XM_005254215.4:c.1477_1484= XM_005254215.4:c.1481_1484del XM_005254215.4:c.1483_1484del
FAM227B transcript variant X5 XM_005254215.3:c.1477_1484= XM_005254215.3:c.1481_1484del XM_005254215.3:c.1483_1484del
FAM227B transcript variant X3 XM_005254215.2:c.1477_1484= XM_005254215.2:c.1481_1484del XM_005254215.2:c.1483_1484del
FAM227B transcript variant X3 XM_005254215.1:c.1477_1484= XM_005254215.1:c.1481_1484del XM_005254215.1:c.1483_1484del
FAM227B transcript variant X1 XM_005254214.4:c.1513_1520= XM_005254214.4:c.1517_1520del XM_005254214.4:c.1519_1520del
FAM227B transcript variant X2 XM_005254214.3:c.1513_1520= XM_005254214.3:c.1517_1520del XM_005254214.3:c.1519_1520del
FAM227B transcript variant X2 XM_005254214.2:c.1513_1520= XM_005254214.2:c.1517_1520del XM_005254214.2:c.1519_1520del
FAM227B transcript variant X2 XM_005254214.1:c.1513_1520= XM_005254214.1:c.1517_1520del XM_005254214.1:c.1519_1520del
FAM227B transcript variant X6 XM_005254216.4:c.1411_1418= XM_005254216.4:c.1415_1418del XM_005254216.4:c.1417_1418del
FAM227B transcript variant X7 XM_005254216.3:c.1411_1418= XM_005254216.3:c.1415_1418del XM_005254216.3:c.1417_1418del
FAM227B transcript variant X4 XM_005254216.2:c.1411_1418= XM_005254216.2:c.1415_1418del XM_005254216.2:c.1417_1418del
FAM227B transcript variant X4 XM_005254216.1:c.1411_1418= XM_005254216.1:c.1415_1418del XM_005254216.1:c.1417_1418del
GALK2 transcript variant 2 NM_001001556.3:c.*491_*498= NM_001001556.3:c.*491TC[2] NM_001001556.3:c.*491TC[3]
GALK2 transcript variant 2 NM_001001556.2:c.*491_*498= NM_001001556.2:c.*491TC[2] NM_001001556.2:c.*491TC[3]
GALK2 transcript variant 2 NM_001001556.1:c.*491_*498= NM_001001556.1:c.*491TC[2] NM_001001556.1:c.*491TC[3]
FAM227B transcript variant X8 XM_006720426.3:c.1372_1379= XM_006720426.3:c.1376_1379del XM_006720426.3:c.1378_1379del
FAM227B transcript variant X8 XM_006720426.2:c.1372_1379= XM_006720426.2:c.1376_1379del XM_006720426.2:c.1378_1379del
FAM227B transcript variant X12 XM_006720426.1:c.1372_1379= XM_006720426.1:c.1376_1379del XM_006720426.1:c.1378_1379del
FAM227B transcript variant 1 NM_152647.3:c.1438_1445= NM_152647.3:c.1442_1445del NM_152647.3:c.1444_1445del
FAM227B transcript variant 1 NM_152647.2:c.1438_1445= NM_152647.2:c.1442_1445del NM_152647.2:c.1444_1445del
GALK2 transcript variant 3 NM_001289030.2:c.*491_*498= NM_001289030.2:c.*491TC[2] NM_001289030.2:c.*491TC[3]
GALK2 transcript variant 3 NM_001289030.1:c.*491_*498= NM_001289030.1:c.*491TC[2] NM_001289030.1:c.*491TC[3]
GALK2 transcript variant 7 NR_147895.2:n.1990_1997= NR_147895.2:n.1990TC[2] NR_147895.2:n.1990TC[3]
GALK2 transcript variant 7 NR_147895.1:n.2221_2228= NR_147895.1:n.2221TC[2] NR_147895.1:n.2221TC[3]
FAM227B transcript variant X10 XM_017021990.2:c.1270_1277= XM_017021990.2:c.1274_1277del XM_017021990.2:c.1276_1277del
FAM227B transcript variant X9 XM_017021990.1:c.1270_1277= XM_017021990.1:c.1274_1277del XM_017021990.1:c.1276_1277del
FAM227B transcript variant X12 XM_017021994.2:c.1171_1178= XM_017021994.2:c.1175_1178del XM_017021994.2:c.1177_1178del
FAM227B transcript variant X14 XM_017021994.1:c.1171_1178= XM_017021994.1:c.1175_1178del XM_017021994.1:c.1177_1178del
FAM227B transcript variant X15 XM_017021996.2:c.1111_1118= XM_017021996.2:c.1115_1118del XM_017021996.2:c.1117_1118del
FAM227B transcript variant X17 XM_017021996.1:c.1111_1118= XM_017021996.1:c.1115_1118del XM_017021996.1:c.1117_1118del
FAM227B transcript variant X16 XM_011521320.2:c.1111_1118= XM_011521320.2:c.1115_1118del XM_011521320.2:c.1117_1118del
FAM227B transcript variant X18 XM_011521320.1:c.1111_1118= XM_011521320.1:c.1115_1118del XM_011521320.1:c.1117_1118del
FAM227B transcript variant X18 XM_011521322.2:c.1075_1082= XM_011521322.2:c.1079_1082del XM_011521322.2:c.1081_1082del
FAM227B transcript variant X20 XM_011521322.1:c.1075_1082= XM_011521322.1:c.1079_1082del XM_011521322.1:c.1081_1082del
FAM227B transcript variant X3 XM_047432220.1:c.1513_1520= XM_047432220.1:c.1517_1520del XM_047432220.1:c.1519_1520del
GALK2 transcript variant X10 XM_047432353.1:c.*491_*498= XM_047432353.1:c.*491TC[2] XM_047432353.1:c.*491TC[3]
GALK2 transcript variant 4 NM_001289031.1:c.*491_*498= NM_001289031.1:c.*491TC[2] NM_001289031.1:c.*491TC[3]
FAM227B transcript variant X7 XM_047432221.1:c.1375_1382= XM_047432221.1:c.1379_1382del XM_047432221.1:c.1381_1382del
FAM227B transcript variant X11 XM_047432223.1:c.1264_1271= XM_047432223.1:c.1268_1271del XM_047432223.1:c.1270_1271del
FAM227B transcript variant X9 XM_047432222.1:c.1372_1379= XM_047432222.1:c.1376_1379del XM_047432222.1:c.1378_1379del
FAM227B transcript variant X13 XM_047432224.1:c.1171_1178= XM_047432224.1:c.1175_1178del XM_047432224.1:c.1177_1178del
protein FAM227B isoform X1 XP_005254270.1:p.Glu505_Glu507= XP_005254270.1:p.Arg506fs XP_005254270.1:p.Glu507fs
protein FAM227B isoform X1 XP_006720486.1:p.Glu505_Glu507= XP_006720486.1:p.Arg506fs XP_006720486.1:p.Glu507fs
protein FAM227B isoform X2 XP_005254272.1:p.Glu493_Glu495= XP_005254272.1:p.Arg494fs XP_005254272.1:p.Glu495fs
protein FAM227B isoform X1 XP_005254271.1:p.Glu505_Glu507= XP_005254271.1:p.Arg506fs XP_005254271.1:p.Glu507fs
protein FAM227B isoform X3 XP_005254273.1:p.Glu471_Glu473= XP_005254273.1:p.Arg472fs XP_005254273.1:p.Glu473fs
protein FAM227B isoform X5 XP_006720489.1:p.Glu458_Glu460= XP_006720489.1:p.Arg459fs XP_006720489.1:p.Glu460fs
protein FAM227B isoform 1 NP_689860.2:p.Glu480_Glu482= NP_689860.2:p.Arg481fs NP_689860.2:p.Glu482fs
protein FAM227B isoform X6 XP_016877479.1:p.Glu424_Glu426= XP_016877479.1:p.Arg425fs XP_016877479.1:p.Glu426fs
protein FAM227B isoform X8 XP_016877483.1:p.Glu391_Glu393= XP_016877483.1:p.Arg392fs XP_016877483.1:p.Glu393fs
protein FAM227B isoform X10 XP_016877485.1:p.Glu371_Glu373= XP_016877485.1:p.Arg372fs XP_016877485.1:p.Glu373fs
protein FAM227B isoform X10 XP_011519622.1:p.Glu371_Glu373= XP_011519622.1:p.Arg372fs XP_011519622.1:p.Glu373fs
protein FAM227B isoform X12 XP_011519624.1:p.Glu359_Glu361= XP_011519624.1:p.Arg360fs XP_011519624.1:p.Glu361fs
protein FAM227B isoform X1 XP_047288176.1:p.Glu505_Glu507= XP_047288176.1:p.Arg506fs XP_047288176.1:p.Glu507fs
protein FAM227B isoform X4 XP_047288177.1:p.Glu459_Glu461= XP_047288177.1:p.Arg460fs XP_047288177.1:p.Glu461fs
protein FAM227B isoform X7 XP_047288179.1:p.Glu422_Glu424= XP_047288179.1:p.Arg423fs XP_047288179.1:p.Glu424fs
protein FAM227B isoform X5 XP_047288178.1:p.Glu458_Glu460= XP_047288178.1:p.Arg459fs XP_047288178.1:p.Glu460fs
protein FAM227B isoform X8 XP_047288180.1:p.Glu391_Glu393= XP_047288180.1:p.Arg392fs XP_047288180.1:p.Glu393fs
GALK2 transcript variant 5 NM_001352047.1:c.962-16= NM_001352047.1:c.962-16TC[2] NM_001352047.1:c.962-16TC[3]
GALK2 transcript variant 6 NM_001352048.2:c.962-16= NM_001352048.2:c.962-16TC[2] NM_001352048.2:c.962-16TC[3]
GALK2 transcript variant X1 XM_005254279.1:c.1348+520= XM_005254279.1:c.1348+520TC[2] XM_005254279.1:c.1348+520TC[3]
GALK2 transcript variant X2 XM_005254280.1:c.1315+520= XM_005254280.1:c.1315+520TC[2] XM_005254280.1:c.1315+520TC[3]
GALK2 transcript variant X3 XM_005254281.1:c.1276+520= XM_005254281.1:c.1276+520TC[2] XM_005254281.1:c.1276+520TC[3]
GALK2 transcript variant X6 XM_005254284.1:c.1216+520= XM_005254284.1:c.1216+520TC[2] XM_005254284.1:c.1216+520TC[3]
GALK2 transcript variant X3 XM_006720461.5:c.1349-16= XM_006720461.5:c.1349-16TC[2] XM_006720461.5:c.1349-16TC[3]
GALK2 transcript variant X5 XM_024449892.2:c.1276+520= XM_024449892.2:c.1276+520TC[2] XM_024449892.2:c.1276+520TC[3]
GALK2 transcript variant X7 XM_024449894.2:c.1177+520= XM_024449894.2:c.1177+520TC[2] XM_024449894.2:c.1177+520TC[3]
GALK2 transcript variant X1 XM_047432347.1:c.1393+520= XM_047432347.1:c.1393+520TC[2] XM_047432347.1:c.1393+520TC[3]
GALK2 transcript variant X2 XM_047432348.1:c.1393+520= XM_047432348.1:c.1393+520TC[2] XM_047432348.1:c.1393+520TC[3]
GALK2 transcript variant X4 XM_047432349.1:c.1316-16= XM_047432349.1:c.1316-16TC[2] XM_047432349.1:c.1316-16TC[3]
GALK2 transcript variant X6 XM_047432350.1:c.1277-16= XM_047432350.1:c.1277-16TC[2] XM_047432350.1:c.1277-16TC[3]
GALK2 transcript variant X8 XM_047432351.1:c.1078+520= XM_047432351.1:c.1078+520TC[2] XM_047432351.1:c.1078+520TC[3]
GALK2 transcript variant X9 XM_047432352.1:c.1078+520= XM_047432352.1:c.1078+520TC[2] XM_047432352.1:c.1078+520TC[3]
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#.

10 SubSNP, 9 Frequency submissions
No Submitter Submission ID Date (Build)
1 EVA_EXAC ss1712079349 Apr 01, 2015 (144)
2 GNOMAD ss2741238724 Nov 08, 2017 (151)
3 AFFY ss2985041155 Nov 08, 2017 (151)
4 ILLUMINA ss3653812765 Oct 12, 2018 (152)
5 GNOMAD ss4288455820 Apr 26, 2021 (155)
6 GNOMAD ss4288455821 Apr 26, 2021 (155)
7 TOPMED ss4990729019 Apr 26, 2021 (155)
8 TOPMED ss4990729020 Apr 26, 2021 (155)
9 TOMMO_GENOMICS ss5216106554 Apr 26, 2021 (155)
10 TOMMO_GENOMICS ss5769887869 Oct 17, 2022 (156)
11 ExAC NC_000015.9 - 49620847 Oct 12, 2018 (152)
12 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 468523929 (NC_000015.10:49328649:TC: 1/140250)
Row 468523930 (NC_000015.10:49328649:TCTC: 1/140250)

- Apr 26, 2021 (155)
13 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 468523929 (NC_000015.10:49328649:TC: 1/140250)
Row 468523930 (NC_000015.10:49328649:TCTC: 1/140250)

- Apr 26, 2021 (155)
14 gnomAD - Exomes NC_000015.9 - 49620847 Jul 13, 2019 (153)
15 8.3KJPN NC_000015.9 - 49620847 Apr 26, 2021 (155)
16 14KJPN NC_000015.10 - 49328650 Oct 17, 2022 (156)
17 TopMed

Submission ignored due to conflicting rows:
Row 206274679 (NC_000015.10:49328649:TC: 3/264690)
Row 206274680 (NC_000015.10:49328649:TCTC: 1/264690)

- Apr 26, 2021 (155)
18 TopMed

Submission ignored due to conflicting rows:
Row 206274679 (NC_000015.10:49328649:TC: 3/264690)
Row 206274680 (NC_000015.10:49328649:TCTC: 1/264690)

- Apr 26, 2021 (155)
19 ALFA NC_000015.10 - 49328650 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
2197545, 10504264, 74075861, ss1712079349, ss2741238724, ss2985041155, ss3653812765, ss5216106554 NC_000015.9:49620846:TCTC: NC_000015.10:49328649:TCTCTCTC:TCTC (self)
103724973, ss4288455821, ss4990729020, ss5769887869 NC_000015.10:49328649:TCTC: NC_000015.10:49328649:TCTCTCTC:TCTC (self)
1349292504 NC_000015.10:49328649:TCTCTCTC:TCTC NC_000015.10:49328649:TCTCTCTC:TCTC (self)
ss4288455820, ss4990729019 NC_000015.10:49328649:TC: NC_000015.10:49328649:TCTCTCTC:TCT…

NC_000015.10:49328649:TCTCTCTC:TCTCTC

(self)
1349292504 NC_000015.10:49328649:TCTCTCTC:TCT…

NC_000015.10:49328649:TCTCTCTC:TCTCTC

NC_000015.10:49328649:TCTCTCTC:TCT…

NC_000015.10:49328649:TCTCTCTC:TCTCTC

(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 rs762888521

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.post761+d5e8e07