Name: rs35797393
Published: September 21, 2022
License: Open Access

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.

rs35797393

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr7:152101643-152101654 (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: delGG / delG / dupG / dupGG / dupG…
delGG / delG / dupG / dupGG / dupGGG / dup(G)₄ / dup(G)₅
Variation Type: Indel Insertion and Deletion
Frequency: dupG=0.00752 (104/13832, ALFA)
delG=0.1268 (635/5008, 1000G)
delG=0.30 (12/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: GALNT11 : Intron Variant
LOC731075 : 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	13832	GGGGGGGGGGGG=0.98843	GGGGGGGGGG=0.00000, GGGGGGGGGGG=0.00398, GGGGGGGGGGGGG=0.00752, GGGGGGGGGGGGGG=0.00007, GGGGGGGGGGGGGGG=0.00000, GGGGGGGGGGGGGGGG=0.00000, GGGGGGGGGGGGGGGGG=0.00000	0.986285	0.001167	0.012547	32
European	Sub	11136	GGGGGGGGGGGG=0.98563	GGGGGGGGGG=0.00000, GGGGGGGGGGG=0.00494, GGGGGGGGGGGGG=0.00934, GGGGGGGGGGGGGG=0.00009, GGGGGGGGGGGGGGG=0.00000, GGGGGGGGGGGGGGGG=0.00000, GGGGGGGGGGGGGGGGG=0.00000	0.982928	0.001453	0.015619	32
African	Sub	1596	GGGGGGGGGGGG=1.0000	GGGGGGGGGG=0.0000, GGGGGGGGGGG=0.0000, GGGGGGGGGGGGG=0.0000, GGGGGGGGGGGGGG=0.0000, GGGGGGGGGGGGGGG=0.0000, GGGGGGGGGGGGGGGG=0.0000, GGGGGGGGGGGGGGGGG=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	62	GGGGGGGGGGGG=1.00	GGGGGGGGGG=0.00, GGGGGGGGGGG=0.00, GGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGGGG=0.00	1.0	0.0	0.0	N/A
African American	Sub	1534	GGGGGGGGGGGG=1.0000	GGGGGGGGGG=0.0000, GGGGGGGGGGG=0.0000, GGGGGGGGGGGGG=0.0000, GGGGGGGGGGGGGG=0.0000, GGGGGGGGGGGGGGG=0.0000, GGGGGGGGGGGGGGGG=0.0000, GGGGGGGGGGGGGGGGG=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	84	GGGGGGGGGGGG=1.00	GGGGGGGGGG=0.00, GGGGGGGGGGG=0.00, GGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGGGG=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	64	GGGGGGGGGGGG=1.00	GGGGGGGGGG=0.00, GGGGGGGGGGG=0.00, GGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGGGG=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	20	GGGGGGGGGGGG=1.00	GGGGGGGGGG=0.00, GGGGGGGGGGG=0.00, GGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGGGG=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	114	GGGGGGGGGGGG=1.000	GGGGGGGGGG=0.000, GGGGGGGGGGG=0.000, GGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGGGGG=0.000	1.0	0.0	0.0	N/A
Latin American 2	Sub	464	GGGGGGGGGGGG=1.000	GGGGGGGGGG=0.000, GGGGGGGGGGG=0.000, GGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGGGGG=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	72	GGGGGGGGGGGG=1.00	GGGGGGGGGG=0.00, GGGGGGGGGGG=0.00, GGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGGGG=0.00	1.0	0.0	0.0	N/A
Other	Sub	366	GGGGGGGGGGGG=1.000	GGGGGGGGGG=0.000, GGGGGGGGGGG=0.000, GGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGGGGG=0.000	1.0	0.0	0.0	N/A

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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	13832	(G)₁₂=0.98843	delGG=0.00000, delG=0.00398, dupG=0.00752, dupGG=0.00007, dupGGG=0.00000, dup(G)₄=0.00000, dup(G)₅=0.00000
Allele Frequency Aggregator	European	Sub	11136	(G)₁₂=0.98563	delGG=0.00000, delG=0.00494, dupG=0.00934, dupGG=0.00009, dupGGG=0.00000, dup(G)₄=0.00000, dup(G)₅=0.00000
Allele Frequency Aggregator	African	Sub	1596	(G)₁₂=1.0000	delGG=0.0000, delG=0.0000, dupG=0.0000, dupGG=0.0000, dupGGG=0.0000, dup(G)₄=0.0000, dup(G)₅=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	464	(G)₁₂=1.000	delGG=0.000, delG=0.000, dupG=0.000, dupGG=0.000, dupGGG=0.000, dup(G)₄=0.000, dup(G)₅=0.000
Allele Frequency Aggregator	Other	Sub	366	(G)₁₂=1.000	delGG=0.000, delG=0.000, dupG=0.000, dupGG=0.000, dupGGG=0.000, dup(G)₄=0.000, dup(G)₅=0.000
Allele Frequency Aggregator	Latin American 1	Sub	114	(G)₁₂=1.000	delGG=0.000, delG=0.000, dupG=0.000, dupGG=0.000, dupGGG=0.000, dup(G)₄=0.000, dup(G)₅=0.000
Allele Frequency Aggregator	Asian	Sub	84	(G)₁₂=1.00	delGG=0.00, delG=0.00, dupG=0.00, dupGG=0.00, dupGGG=0.00, dup(G)₄=0.00, dup(G)₅=0.00
Allele Frequency Aggregator	South Asian	Sub	72	(G)₁₂=1.00	delGG=0.00, delG=0.00, dupG=0.00, dupGG=0.00, dupGGG=0.00, dup(G)₄=0.00, dup(G)₅=0.00
1000Genomes	Global	Study-wide	5008	(G)₁₂=0.8732	delG=0.1268
1000Genomes	African	Sub	1322	(G)₁₂=0.8555	delG=0.1445
1000Genomes	East Asian	Sub	1008	(G)₁₂=0.8125	delG=0.1875
1000Genomes	Europe	Sub	1006	(G)₁₂=0.9632	delG=0.0368
1000Genomes	South Asian	Sub	978	(G)₁₂=0.850	delG=0.150
1000Genomes	American	Sub	694	(G)₁₂=0.898	delG=0.102
The Danish reference pan genome	Danish	Study-wide	40	(G)₁₂=0.70	delG=0.30

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 7	NC_000007.14:g.152101653_152101654del
GRCh38.p14 chr 7	NC_000007.14:g.152101654del
GRCh38.p14 chr 7	NC_000007.14:g.152101654dup
GRCh38.p14 chr 7	NC_000007.14:g.152101653_152101654dup
GRCh38.p14 chr 7	NC_000007.14:g.152101652_152101654dup
GRCh38.p14 chr 7	NC_000007.14:g.152101651_152101654dup
GRCh38.p14 chr 7	NC_000007.14:g.152101650_152101654dup
GRCh37.p13 chr 7	NC_000007.13:g.151798738_151798739del
GRCh37.p13 chr 7	NC_000007.13:g.151798739del
GRCh37.p13 chr 7	NC_000007.13:g.151798739dup
GRCh37.p13 chr 7	NC_000007.13:g.151798738_151798739dup
GRCh37.p13 chr 7	NC_000007.13:g.151798737_151798739dup
GRCh37.p13 chr 7	NC_000007.13:g.151798736_151798739dup
GRCh37.p13 chr 7	NC_000007.13:g.151798735_151798739dup

Gene: GALNT11, polypeptide N-acetylgalactosaminyltransferase 11 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
GALNT11 transcript variant 2	NM_001304514.2:c.176+732_… NM_001304514.2:c.176+732_176+733del	N/A	Intron Variant
GALNT11 transcript variant 3	NM_001371458.1:c.419+732_… NM_001371458.1:c.419+732_419+733del	N/A	Intron Variant
GALNT11 transcript variant 4	NM_001371459.1:c.419+732_… NM_001371459.1:c.419+732_419+733del	N/A	Intron Variant
GALNT11 transcript variant 5	NM_001371460.1:c.419+732_… NM_001371460.1:c.419+732_419+733del	N/A	Intron Variant
GALNT11 transcript variant 6	NM_001371461.1:c.419+732_… NM_001371461.1:c.419+732_419+733del	N/A	Intron Variant
GALNT11 transcript variant 7	NM_001371462.1:c.419+732_… NM_001371462.1:c.419+732_419+733del	N/A	Intron Variant
GALNT11 transcript variant 8	NM_001371463.1:c.419+732_… NM_001371463.1:c.419+732_419+733del	N/A	Intron Variant
GALNT11 transcript variant 9	NM_001371464.1:c.419+732_… NM_001371464.1:c.419+732_419+733del	N/A	Intron Variant
GALNT11 transcript variant 10	NM_001371465.1:c.419+732_… NM_001371465.1:c.419+732_419+733del	N/A	Intron Variant
GALNT11 transcript variant 11	NM_001371466.1:c.419+732_… NM_001371466.1:c.419+732_419+733del	N/A	Intron Variant
GALNT11 transcript variant 12	NM_001371467.1:c.419+732_… NM_001371467.1:c.419+732_419+733del	N/A	Intron Variant
GALNT11 transcript variant 13	NM_001371468.1:c.122+732_… NM_001371468.1:c.122+732_122+733del	N/A	Intron Variant
GALNT11 transcript variant 14	NM_001371469.1:c.122+732_… NM_001371469.1:c.122+732_122+733del	N/A	Intron Variant
GALNT11 transcript variant 15	NM_001371470.1:c.122+732_… NM_001371470.1:c.122+732_122+733del	N/A	Intron Variant
GALNT11 transcript variant 16	NM_001371471.1:c.419+732_… NM_001371471.1:c.419+732_419+733del	N/A	Intron Variant
GALNT11 transcript variant 17	NM_001371472.1:c.419+732_… NM_001371472.1:c.419+732_419+733del	N/A	Intron Variant
GALNT11 transcript variant 18	NM_001371473.1:c.419+732_… NM_001371473.1:c.419+732_419+733del	N/A	Intron Variant
GALNT11 transcript variant 19	NM_001371474.1:c.419+732_… NM_001371474.1:c.419+732_419+733del	N/A	Intron Variant
GALNT11 transcript variant 20	NM_001371475.1:c.419+732_… NM_001371475.1:c.419+732_419+733del	N/A	Intron Variant
GALNT11 transcript variant 1	NM_022087.4:c.419+732_419… NM_022087.4:c.419+732_419+733del	N/A	Intron Variant
GALNT11 transcript variant 21	NR_163956.1:n.	N/A	Intron Variant
GALNT11 transcript variant 22	NR_163957.1:n.	N/A	Intron Variant
GALNT11 transcript variant 23	NR_163958.1:n.	N/A	Intron Variant
GALNT11 transcript variant 24	NR_163959.1:n.	N/A	Intron Variant
GALNT11 transcript variant X7	XM_006716083.3:c.419+732_… XM_006716083.3:c.419+732_419+733del	N/A	Intron Variant
GALNT11 transcript variant X9	XM_006716084.3:c.419+732_… XM_006716084.3:c.419+732_419+733del	N/A	Intron Variant
GALNT11 transcript variant X1	XM_024446857.2:c.419+732_… XM_024446857.2:c.419+732_419+733del	N/A	Intron Variant
GALNT11 transcript variant X5	XM_024446859.2:c.419+732_… XM_024446859.2:c.419+732_419+733del	N/A	Intron Variant
GALNT11 transcript variant X8	XM_024446860.2:c.419+732_… XM_024446860.2:c.419+732_419+733del	N/A	Intron Variant
GALNT11 transcript variant X6	XM_024446861.2:c.419+732_… XM_024446861.2:c.419+732_419+733del	N/A	Intron Variant
GALNT11 transcript variant X10	XM_024446862.2:c.419+732_… XM_024446862.2:c.419+732_419+733del	N/A	Intron Variant
GALNT11 transcript variant X2	XM_047420689.1:c.419+732_… XM_047420689.1:c.419+732_419+733del	N/A	Intron Variant
GALNT11 transcript variant X3	XM_047420690.1:c.419+732_… XM_047420690.1:c.419+732_419+733del	N/A	Intron Variant
GALNT11 transcript variant X4	XM_047420691.1:c.419+732_… XM_047420691.1:c.419+732_419+733del	N/A	Intron Variant

Gene: LOC731075, uncharacterized LOC731075 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC731075 transcript variant X3	XR_001745432.2:n.	N/A	Intron Variant
LOC731075 transcript variant X2	XR_001745431.2:n.	N/A	Genic Downstream Transcript Variant
LOC731075 transcript variant X1	XR_007060598.1:n.	N/A	Genic Downstream Transcript Variant

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

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)₁₂=	delGG	delG	dupG	dupGG	dupGGG	dup(G)₄	dup(G)₅
GRCh38.p14 chr 7	NC_000007.14:g.152101643_152101654=	NC_000007.14:g.152101653_152101654del	NC_000007.14:g.152101654del	NC_000007.14:g.152101654dup	NC_000007.14:g.152101653_152101654dup	NC_000007.14:g.152101652_152101654dup	NC_000007.14:g.152101651_152101654dup	NC_000007.14:g.152101650_152101654dup
GRCh37.p13 chr 7	NC_000007.13:g.151798728_151798739=	NC_000007.13:g.151798738_151798739del	NC_000007.13:g.151798739del	NC_000007.13:g.151798739dup	NC_000007.13:g.151798738_151798739dup	NC_000007.13:g.151798737_151798739dup	NC_000007.13:g.151798736_151798739dup	NC_000007.13:g.151798735_151798739dup
GALNT11 transcript variant 2	NM_001304514.2:c.176+722=	NM_001304514.2:c.176+732_176+733del	NM_001304514.2:c.176+733del	NM_001304514.2:c.176+733dup	NM_001304514.2:c.176+732_176+733dup	NM_001304514.2:c.176+731_176+733dup	NM_001304514.2:c.176+730_176+733dup	NM_001304514.2:c.176+729_176+733dup
GALNT11 transcript variant 3	NM_001371458.1:c.419+722=	NM_001371458.1:c.419+732_419+733del	NM_001371458.1:c.419+733del	NM_001371458.1:c.419+733dup	NM_001371458.1:c.419+732_419+733dup	NM_001371458.1:c.419+731_419+733dup	NM_001371458.1:c.419+730_419+733dup	NM_001371458.1:c.419+729_419+733dup
GALNT11 transcript variant 4	NM_001371459.1:c.419+722=	NM_001371459.1:c.419+732_419+733del	NM_001371459.1:c.419+733del	NM_001371459.1:c.419+733dup	NM_001371459.1:c.419+732_419+733dup	NM_001371459.1:c.419+731_419+733dup	NM_001371459.1:c.419+730_419+733dup	NM_001371459.1:c.419+729_419+733dup
GALNT11 transcript variant 5	NM_001371460.1:c.419+722=	NM_001371460.1:c.419+732_419+733del	NM_001371460.1:c.419+733del	NM_001371460.1:c.419+733dup	NM_001371460.1:c.419+732_419+733dup	NM_001371460.1:c.419+731_419+733dup	NM_001371460.1:c.419+730_419+733dup	NM_001371460.1:c.419+729_419+733dup
GALNT11 transcript variant 6	NM_001371461.1:c.419+722=	NM_001371461.1:c.419+732_419+733del	NM_001371461.1:c.419+733del	NM_001371461.1:c.419+733dup	NM_001371461.1:c.419+732_419+733dup	NM_001371461.1:c.419+731_419+733dup	NM_001371461.1:c.419+730_419+733dup	NM_001371461.1:c.419+729_419+733dup
GALNT11 transcript variant 7	NM_001371462.1:c.419+722=	NM_001371462.1:c.419+732_419+733del	NM_001371462.1:c.419+733del	NM_001371462.1:c.419+733dup	NM_001371462.1:c.419+732_419+733dup	NM_001371462.1:c.419+731_419+733dup	NM_001371462.1:c.419+730_419+733dup	NM_001371462.1:c.419+729_419+733dup
GALNT11 transcript variant 8	NM_001371463.1:c.419+722=	NM_001371463.1:c.419+732_419+733del	NM_001371463.1:c.419+733del	NM_001371463.1:c.419+733dup	NM_001371463.1:c.419+732_419+733dup	NM_001371463.1:c.419+731_419+733dup	NM_001371463.1:c.419+730_419+733dup	NM_001371463.1:c.419+729_419+733dup
GALNT11 transcript variant 9	NM_001371464.1:c.419+722=	NM_001371464.1:c.419+732_419+733del	NM_001371464.1:c.419+733del	NM_001371464.1:c.419+733dup	NM_001371464.1:c.419+732_419+733dup	NM_001371464.1:c.419+731_419+733dup	NM_001371464.1:c.419+730_419+733dup	NM_001371464.1:c.419+729_419+733dup
GALNT11 transcript variant 10	NM_001371465.1:c.419+722=	NM_001371465.1:c.419+732_419+733del	NM_001371465.1:c.419+733del	NM_001371465.1:c.419+733dup	NM_001371465.1:c.419+732_419+733dup	NM_001371465.1:c.419+731_419+733dup	NM_001371465.1:c.419+730_419+733dup	NM_001371465.1:c.419+729_419+733dup
GALNT11 transcript variant 11	NM_001371466.1:c.419+722=	NM_001371466.1:c.419+732_419+733del	NM_001371466.1:c.419+733del	NM_001371466.1:c.419+733dup	NM_001371466.1:c.419+732_419+733dup	NM_001371466.1:c.419+731_419+733dup	NM_001371466.1:c.419+730_419+733dup	NM_001371466.1:c.419+729_419+733dup
GALNT11 transcript variant 12	NM_001371467.1:c.419+722=	NM_001371467.1:c.419+732_419+733del	NM_001371467.1:c.419+733del	NM_001371467.1:c.419+733dup	NM_001371467.1:c.419+732_419+733dup	NM_001371467.1:c.419+731_419+733dup	NM_001371467.1:c.419+730_419+733dup	NM_001371467.1:c.419+729_419+733dup
GALNT11 transcript variant 13	NM_001371468.1:c.122+722=	NM_001371468.1:c.122+732_122+733del	NM_001371468.1:c.122+733del	NM_001371468.1:c.122+733dup	NM_001371468.1:c.122+732_122+733dup	NM_001371468.1:c.122+731_122+733dup	NM_001371468.1:c.122+730_122+733dup	NM_001371468.1:c.122+729_122+733dup
GALNT11 transcript variant 14	NM_001371469.1:c.122+722=	NM_001371469.1:c.122+732_122+733del	NM_001371469.1:c.122+733del	NM_001371469.1:c.122+733dup	NM_001371469.1:c.122+732_122+733dup	NM_001371469.1:c.122+731_122+733dup	NM_001371469.1:c.122+730_122+733dup	NM_001371469.1:c.122+729_122+733dup
GALNT11 transcript variant 15	NM_001371470.1:c.122+722=	NM_001371470.1:c.122+732_122+733del	NM_001371470.1:c.122+733del	NM_001371470.1:c.122+733dup	NM_001371470.1:c.122+732_122+733dup	NM_001371470.1:c.122+731_122+733dup	NM_001371470.1:c.122+730_122+733dup	NM_001371470.1:c.122+729_122+733dup
GALNT11 transcript variant 16	NM_001371471.1:c.419+722=	NM_001371471.1:c.419+732_419+733del	NM_001371471.1:c.419+733del	NM_001371471.1:c.419+733dup	NM_001371471.1:c.419+732_419+733dup	NM_001371471.1:c.419+731_419+733dup	NM_001371471.1:c.419+730_419+733dup	NM_001371471.1:c.419+729_419+733dup
GALNT11 transcript variant 17	NM_001371472.1:c.419+722=	NM_001371472.1:c.419+732_419+733del	NM_001371472.1:c.419+733del	NM_001371472.1:c.419+733dup	NM_001371472.1:c.419+732_419+733dup	NM_001371472.1:c.419+731_419+733dup	NM_001371472.1:c.419+730_419+733dup	NM_001371472.1:c.419+729_419+733dup
GALNT11 transcript variant 18	NM_001371473.1:c.419+722=	NM_001371473.1:c.419+732_419+733del	NM_001371473.1:c.419+733del	NM_001371473.1:c.419+733dup	NM_001371473.1:c.419+732_419+733dup	NM_001371473.1:c.419+731_419+733dup	NM_001371473.1:c.419+730_419+733dup	NM_001371473.1:c.419+729_419+733dup
GALNT11 transcript variant 19	NM_001371474.1:c.419+722=	NM_001371474.1:c.419+732_419+733del	NM_001371474.1:c.419+733del	NM_001371474.1:c.419+733dup	NM_001371474.1:c.419+732_419+733dup	NM_001371474.1:c.419+731_419+733dup	NM_001371474.1:c.419+730_419+733dup	NM_001371474.1:c.419+729_419+733dup
GALNT11 transcript variant 20	NM_001371475.1:c.419+722=	NM_001371475.1:c.419+732_419+733del	NM_001371475.1:c.419+733del	NM_001371475.1:c.419+733dup	NM_001371475.1:c.419+732_419+733dup	NM_001371475.1:c.419+731_419+733dup	NM_001371475.1:c.419+730_419+733dup	NM_001371475.1:c.419+729_419+733dup
GALNT11 transcript	NM_022087.2:c.419+722=	NM_022087.2:c.419+732_419+733del	NM_022087.2:c.419+733del	NM_022087.2:c.419+733dup	NM_022087.2:c.419+732_419+733dup	NM_022087.2:c.419+731_419+733dup	NM_022087.2:c.419+730_419+733dup	NM_022087.2:c.419+729_419+733dup
GALNT11 transcript variant 1	NM_022087.4:c.419+722=	NM_022087.4:c.419+732_419+733del	NM_022087.4:c.419+733del	NM_022087.4:c.419+733dup	NM_022087.4:c.419+732_419+733dup	NM_022087.4:c.419+731_419+733dup	NM_022087.4:c.419+730_419+733dup	NM_022087.4:c.419+729_419+733dup
GALNT11 transcript variant X1	XM_005250035.1:c.176+722=	XM_005250035.1:c.176+732_176+733del	XM_005250035.1:c.176+733del	XM_005250035.1:c.176+733dup	XM_005250035.1:c.176+732_176+733dup	XM_005250035.1:c.176+731_176+733dup	XM_005250035.1:c.176+730_176+733dup	XM_005250035.1:c.176+729_176+733dup
GALNT11 transcript variant X7	XM_006716083.3:c.419+722=	XM_006716083.3:c.419+732_419+733del	XM_006716083.3:c.419+733del	XM_006716083.3:c.419+733dup	XM_006716083.3:c.419+732_419+733dup	XM_006716083.3:c.419+731_419+733dup	XM_006716083.3:c.419+730_419+733dup	XM_006716083.3:c.419+729_419+733dup
GALNT11 transcript variant X9	XM_006716084.3:c.419+722=	XM_006716084.3:c.419+732_419+733del	XM_006716084.3:c.419+733del	XM_006716084.3:c.419+733dup	XM_006716084.3:c.419+732_419+733dup	XM_006716084.3:c.419+731_419+733dup	XM_006716084.3:c.419+730_419+733dup	XM_006716084.3:c.419+729_419+733dup
GALNT11 transcript variant X1	XM_024446857.2:c.419+722=	XM_024446857.2:c.419+732_419+733del	XM_024446857.2:c.419+733del	XM_024446857.2:c.419+733dup	XM_024446857.2:c.419+732_419+733dup	XM_024446857.2:c.419+731_419+733dup	XM_024446857.2:c.419+730_419+733dup	XM_024446857.2:c.419+729_419+733dup
GALNT11 transcript variant X5	XM_024446859.2:c.419+722=	XM_024446859.2:c.419+732_419+733del	XM_024446859.2:c.419+733del	XM_024446859.2:c.419+733dup	XM_024446859.2:c.419+732_419+733dup	XM_024446859.2:c.419+731_419+733dup	XM_024446859.2:c.419+730_419+733dup	XM_024446859.2:c.419+729_419+733dup
GALNT11 transcript variant X8	XM_024446860.2:c.419+722=	XM_024446860.2:c.419+732_419+733del	XM_024446860.2:c.419+733del	XM_024446860.2:c.419+733dup	XM_024446860.2:c.419+732_419+733dup	XM_024446860.2:c.419+731_419+733dup	XM_024446860.2:c.419+730_419+733dup	XM_024446860.2:c.419+729_419+733dup
GALNT11 transcript variant X6	XM_024446861.2:c.419+722=	XM_024446861.2:c.419+732_419+733del	XM_024446861.2:c.419+733del	XM_024446861.2:c.419+733dup	XM_024446861.2:c.419+732_419+733dup	XM_024446861.2:c.419+731_419+733dup	XM_024446861.2:c.419+730_419+733dup	XM_024446861.2:c.419+729_419+733dup
GALNT11 transcript variant X10	XM_024446862.2:c.419+722=	XM_024446862.2:c.419+732_419+733del	XM_024446862.2:c.419+733del	XM_024446862.2:c.419+733dup	XM_024446862.2:c.419+732_419+733dup	XM_024446862.2:c.419+731_419+733dup	XM_024446862.2:c.419+730_419+733dup	XM_024446862.2:c.419+729_419+733dup
GALNT11 transcript variant X2	XM_047420689.1:c.419+722=	XM_047420689.1:c.419+732_419+733del	XM_047420689.1:c.419+733del	XM_047420689.1:c.419+733dup	XM_047420689.1:c.419+732_419+733dup	XM_047420689.1:c.419+731_419+733dup	XM_047420689.1:c.419+730_419+733dup	XM_047420689.1:c.419+729_419+733dup
GALNT11 transcript variant X3	XM_047420690.1:c.419+722=	XM_047420690.1:c.419+732_419+733del	XM_047420690.1:c.419+733del	XM_047420690.1:c.419+733dup	XM_047420690.1:c.419+732_419+733dup	XM_047420690.1:c.419+731_419+733dup	XM_047420690.1:c.419+730_419+733dup	XM_047420690.1:c.419+729_419+733dup
GALNT11 transcript variant X4	XM_047420691.1:c.419+722=	XM_047420691.1:c.419+732_419+733del	XM_047420691.1:c.419+733del	XM_047420691.1:c.419+733dup	XM_047420691.1:c.419+732_419+733dup	XM_047420691.1:c.419+731_419+733dup	XM_047420691.1:c.419+730_419+733dup	XM_047420691.1:c.419+729_419+733dup

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#.

37 SubSNP, 22 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss42981575	Dec 03, 2013 (138)
2	HUMANGENOME_JCVI	ss95479832	Dec 05, 2013 (138)
3	PJP	ss295363065	May 09, 2011 (134)
4	SSMP	ss663758136	Apr 01, 2015 (144)
5	1000GENOMES	ss1367789609	Aug 21, 2014 (142)
6	EVA_GENOME_DK	ss1577117889	Apr 01, 2015 (144)
7	HAMMER_LAB	ss1805297409	Sep 08, 2015 (146)
8	SYSTEMSBIOZJU	ss2626887504	Nov 08, 2017 (151)
9	SWEGEN	ss3002309537	Nov 08, 2017 (151)
10	EVA_DECODE	ss3721010912	Jul 13, 2019 (153)
11	EVA_DECODE	ss3721010913	Jul 13, 2019 (153)
12	EVA_DECODE	ss3721010914	Jul 13, 2019 (153)
13	ACPOP	ss3735210506	Jul 13, 2019 (153)
14	ACPOP	ss3735210507	Jul 13, 2019 (153)
15	KHV_HUMAN_GENOMES	ss3810523972	Jul 13, 2019 (153)
16	EVA	ss3830901996	Apr 26, 2020 (154)
17	KOGIC	ss3962893778	Apr 26, 2020 (154)
18	KOGIC	ss3962893779	Apr 26, 2020 (154)
19	KOGIC	ss3962893780	Apr 26, 2020 (154)
20	GNOMAD	ss4175919962	Apr 27, 2021 (155)
21	GNOMAD	ss4175919963	Apr 27, 2021 (155)
22	GNOMAD	ss4175919964	Apr 27, 2021 (155)
23	GNOMAD	ss4175919965	Apr 27, 2021 (155)
24	GNOMAD	ss4175919971	Apr 27, 2021 (155)
25	TOMMO_GENOMICS	ss5186325065	Apr 27, 2021 (155)
26	TOMMO_GENOMICS	ss5186325066	Apr 27, 2021 (155)
27	TOMMO_GENOMICS	ss5186325067	Apr 27, 2021 (155)
28	TOMMO_GENOMICS	ss5186325068	Apr 27, 2021 (155)
29	1000G_HIGH_COVERAGE	ss5275319878	Oct 14, 2022 (156)
30	1000G_HIGH_COVERAGE	ss5275319879	Oct 14, 2022 (156)
31	HUGCELL_USP	ss5472127893	Oct 14, 2022 (156)
32	HUGCELL_USP	ss5472127894	Oct 14, 2022 (156)
33	TOMMO_GENOMICS	ss5727554792	Oct 14, 2022 (156)
34	TOMMO_GENOMICS	ss5727554793	Oct 14, 2022 (156)
35	TOMMO_GENOMICS	ss5727554794	Oct 14, 2022 (156)
36	TOMMO_GENOMICS	ss5727554796	Oct 14, 2022 (156)
37	EVA	ss5856161257	Oct 14, 2022 (156)
38	1000Genomes	NC_000007.13 - 151798728	Oct 12, 2018 (152)
39	The Danish reference pan genome	NC_000007.13 - 151798728	Apr 26, 2020 (154)
40	gnomAD - Genomes Submission ignored due to conflicting rows: Row 281330657 (NC_000007.14:152101642::G 3637/86684) Row 281330658 (NC_000007.14:152101642::GG 263/86884) Row 281330659 (NC_000007.14:152101642::GGG 20/86976)...	-	Apr 27, 2021 (155)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 281330657 (NC_000007.14:152101642::G 3637/86684) Row 281330658 (NC_000007.14:152101642::GG 263/86884) Row 281330659 (NC_000007.14:152101642::GGG 20/86976)...	-	Apr 27, 2021 (155)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 281330657 (NC_000007.14:152101642::G 3637/86684) Row 281330658 (NC_000007.14:152101642::GG 263/86884) Row 281330659 (NC_000007.14:152101642::GGG 20/86976)...	-	Apr 27, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 281330657 (NC_000007.14:152101642::G 3637/86684) Row 281330658 (NC_000007.14:152101642::GG 263/86884) Row 281330659 (NC_000007.14:152101642::GGG 20/86976)...	-	Apr 27, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 281330657 (NC_000007.14:152101642::G 3637/86684) Row 281330658 (NC_000007.14:152101642::GG 263/86884) Row 281330659 (NC_000007.14:152101642::GGG 20/86976)...	-	Apr 27, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 281330657 (NC_000007.14:152101642::G 3637/86684) Row 281330658 (NC_000007.14:152101642::GG 263/86884) Row 281330659 (NC_000007.14:152101642::GGG 20/86976)...	-	Apr 27, 2021 (155)
46	Korean Genome Project Submission ignored due to conflicting rows: Row 19271779 (NC_000007.14:152101643:G: 432/1810) Row 19271780 (NC_000007.14:152101644::G 31/1810) Row 19271781 (NC_000007.14:152101642:GG: 17/1810)	-	Apr 26, 2020 (154)
47	Korean Genome Project Submission ignored due to conflicting rows: Row 19271779 (NC_000007.14:152101643:G: 432/1810) Row 19271780 (NC_000007.14:152101644::G 31/1810) Row 19271781 (NC_000007.14:152101642:GG: 17/1810)	-	Apr 26, 2020 (154)
48	Korean Genome Project Submission ignored due to conflicting rows: Row 19271779 (NC_000007.14:152101643:G: 432/1810) Row 19271780 (NC_000007.14:152101644::G 31/1810) Row 19271781 (NC_000007.14:152101642:GG: 17/1810)	-	Apr 26, 2020 (154)
49	Northern Sweden Submission ignored due to conflicting rows: Row 8495371 (NC_000007.13:151798727:G: 9/594) Row 8495372 (NC_000007.13:151798727::G 11/594)	-	Jul 13, 2019 (153)
50	Northern Sweden Submission ignored due to conflicting rows: Row 8495371 (NC_000007.13:151798727:G: 9/594) Row 8495372 (NC_000007.13:151798727::G 11/594)	-	Jul 13, 2019 (153)
51	8.3KJPN Submission ignored due to conflicting rows: Row 44294372 (NC_000007.13:151798727:GG: 253/16704) Row 44294373 (NC_000007.13:151798727:G: 3208/16704) Row 44294374 (NC_000007.13:151798727::G 180/16704)...	-	Apr 27, 2021 (155)
52	8.3KJPN Submission ignored due to conflicting rows: Row 44294372 (NC_000007.13:151798727:GG: 253/16704) Row 44294373 (NC_000007.13:151798727:G: 3208/16704) Row 44294374 (NC_000007.13:151798727::G 180/16704)...	-	Apr 27, 2021 (155)
53	8.3KJPN Submission ignored due to conflicting rows: Row 44294372 (NC_000007.13:151798727:GG: 253/16704) Row 44294373 (NC_000007.13:151798727:G: 3208/16704) Row 44294374 (NC_000007.13:151798727::G 180/16704)...	-	Apr 27, 2021 (155)
54	8.3KJPN Submission ignored due to conflicting rows: Row 44294372 (NC_000007.13:151798727:GG: 253/16704) Row 44294373 (NC_000007.13:151798727:G: 3208/16704) Row 44294374 (NC_000007.13:151798727::G 180/16704)...	-	Apr 27, 2021 (155)
55	14KJPN Submission ignored due to conflicting rows: Row 61391896 (NC_000007.14:152101642:G: 5230/28246) Row 61391897 (NC_000007.14:152101642::G 357/28246) Row 61391898 (NC_000007.14:152101642:GG: 386/28246)...	-	Oct 14, 2022 (156)
56	14KJPN Submission ignored due to conflicting rows: Row 61391896 (NC_000007.14:152101642:G: 5230/28246) Row 61391897 (NC_000007.14:152101642::G 357/28246) Row 61391898 (NC_000007.14:152101642:GG: 386/28246)...	-	Oct 14, 2022 (156)
57	14KJPN Submission ignored due to conflicting rows: Row 61391896 (NC_000007.14:152101642:G: 5230/28246) Row 61391897 (NC_000007.14:152101642::G 357/28246) Row 61391898 (NC_000007.14:152101642:GG: 386/28246)...	-	Oct 14, 2022 (156)
58	14KJPN Submission ignored due to conflicting rows: Row 61391896 (NC_000007.14:152101642:G: 5230/28246) Row 61391897 (NC_000007.14:152101642::G 357/28246) Row 61391898 (NC_000007.14:152101642:GG: 386/28246)...	-	Oct 14, 2022 (156)
59	ALFA	NC_000007.14 - 152101643	Apr 27, 2021 (155)

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).

Associated ID	History Updated (Build)
rs67134747	May 11, 2012 (137)
rs67134748	Feb 26, 2009 (130)
rs371300234	May 13, 2013 (138)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss5186325065	NC_000007.13:151798727:GG:	NC_000007.14:152101642:GGGGGGGGGGG… NC_000007.14:152101642:GGGGGGGGGGGG:GGGGGGGGGG	(self)
ss3962893780, ss4175919971, ss5727554794	NC_000007.14:152101642:GG:	NC_000007.14:152101642:GGGGGGGGGGG… NC_000007.14:152101642:GGGGGGGGGGGG:GGGGGGGGGG	(self)
525863068	NC_000007.14:152101642:GGGGGGGGGGG… NC_000007.14:152101642:GGGGGGGGGGGG:GGGGGGGGGG	NC_000007.14:152101642:GGGGGGGGGGG… NC_000007.14:152101642:GGGGGGGGGGGG:GGGGGGGGGG	(self)
ss295363065	NC_000007.12:151429671:G:	NC_000007.14:152101642:GGGGGGGGGGG… NC_000007.14:152101642:GGGGGGGGGGGG:GGGGGGGGGGG	(self)
39843823, 1193918, ss663758136, ss1367789609, ss1577117889, ss1805297409, ss2626887504, ss3002309537, ss3735210506, ss3830901996, ss5186325066	NC_000007.13:151798727:G:	NC_000007.14:152101642:GGGGGGGGGGG… NC_000007.14:152101642:GGGGGGGGGGGG:GGGGGGGGGGG	(self)
ss3721010914, ss3810523972, ss5275319879, ss5472127893, ss5727554792, ss5856161257	NC_000007.14:152101642:G:	NC_000007.14:152101642:GGGGGGGGGGG… NC_000007.14:152101642:GGGGGGGGGGGG:GGGGGGGGGGG	(self)
525863068	NC_000007.14:152101642:GGGGGGGGGGG… NC_000007.14:152101642:GGGGGGGGGGGG:GGGGGGGGGGG	NC_000007.14:152101642:GGGGGGGGGGG… NC_000007.14:152101642:GGGGGGGGGGGG:GGGGGGGGGGG	(self)
ss3962893778	NC_000007.14:152101643:G:	NC_000007.14:152101642:GGGGGGGGGGG… NC_000007.14:152101642:GGGGGGGGGGGG:GGGGGGGGGGG	(self)
ss42981575, ss95479832	NT_007914.15:12394361:G:	NC_000007.14:152101642:GGGGGGGGGGG… NC_000007.14:152101642:GGGGGGGGGGGG:GGGGGGGGGGG	(self)
ss3735210507, ss5186325067	NC_000007.13:151798727::G	NC_000007.14:152101642:GGGGGGGGGGG… NC_000007.14:152101642:GGGGGGGGGGGG:GGGGGGGGGGGGG	(self)
ss4175919962, ss5275319878, ss5472127894, ss5727554793	NC_000007.14:152101642::G	NC_000007.14:152101642:GGGGGGGGGGG… NC_000007.14:152101642:GGGGGGGGGGGG:GGGGGGGGGGGGG	(self)
525863068	NC_000007.14:152101642:GGGGGGGGGGG… NC_000007.14:152101642:GGGGGGGGGGGG:GGGGGGGGGGGGG	NC_000007.14:152101642:GGGGGGGGGGG… NC_000007.14:152101642:GGGGGGGGGGGG:GGGGGGGGGGGGG	(self)
ss3721010913	NC_000007.14:152101643::G	NC_000007.14:152101642:GGGGGGGGGGG… NC_000007.14:152101642:GGGGGGGGGGGG:GGGGGGGGGGGGG	(self)
ss3962893779	NC_000007.14:152101644::G	NC_000007.14:152101642:GGGGGGGGGGG… NC_000007.14:152101642:GGGGGGGGGGGG:GGGGGGGGGGGGG	(self)
ss5186325068	NC_000007.13:151798727::GG	NC_000007.14:152101642:GGGGGGGGGGG… NC_000007.14:152101642:GGGGGGGGGGGG:GGGGGGGGGGGGGG	(self)
ss4175919963, ss5727554796	NC_000007.14:152101642::GG	NC_000007.14:152101642:GGGGGGGGGGG… NC_000007.14:152101642:GGGGGGGGGGGG:GGGGGGGGGGGGGG	(self)
525863068	NC_000007.14:152101642:GGGGGGGGGGG… NC_000007.14:152101642:GGGGGGGGGGGG:GGGGGGGGGGGGGG	NC_000007.14:152101642:GGGGGGGGGGG… NC_000007.14:152101642:GGGGGGGGGGGG:GGGGGGGGGGGGGG	(self)
ss3721010912	NC_000007.14:152101643::GG	NC_000007.14:152101642:GGGGGGGGGGG… NC_000007.14:152101642:GGGGGGGGGGGG:GGGGGGGGGGGGGG	(self)
ss4175919964	NC_000007.14:152101642::GGG	NC_000007.14:152101642:GGGGGGGGGGG… NC_000007.14:152101642:GGGGGGGGGGGG:GGGGGGGGGGGGGGG	(self)
525863068	NC_000007.14:152101642:GGGGGGGGGGG… NC_000007.14:152101642:GGGGGGGGGGGG:GGGGGGGGGGGGGGG	NC_000007.14:152101642:GGGGGGGGGGG… NC_000007.14:152101642:GGGGGGGGGGGG:GGGGGGGGGGGGGGG	(self)
ss4175919965	NC_000007.14:152101642::GGGG	NC_000007.14:152101642:GGGGGGGGGGG… NC_000007.14:152101642:GGGGGGGGGGGG:GGGGGGGGGGGGGGGG	(self)
525863068	NC_000007.14:152101642:GGGGGGGGGGG… NC_000007.14:152101642:GGGGGGGGGGGG:GGGGGGGGGGGGGGGG	NC_000007.14:152101642:GGGGGGGGGGG… NC_000007.14:152101642:GGGGGGGGGGGG:GGGGGGGGGGGGGGGG	(self)
525863068	NC_000007.14:152101642:GGGGGGGGGGG… NC_000007.14:152101642:GGGGGGGGGGGG:GGGGGGGGGGGGGGGGG	NC_000007.14:152101642:GGGGGGGGGGG… NC_000007.14:152101642:GGGGGGGGGGGG:GGGGGGGGGGGGGGGGG	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs35797393

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs35797393