Name: rs1221293803
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.

rs1221293803

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr16:84013425-84013449 (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: del(T)₁₃ / del(T)₁₂ / del(T)₁₁ / d…
del(T)₁₃ / del(T)₁₂ / del(T)₁₁ / del(T)₁₀ / del(T)₉ / del(T)₇ / del(T)₆ / del(T)₅ / del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₄ / dup(T)₅ / dup(T)₆ / dup(T)₇ / dup(T)₈ / dup(T)₉ / dup(T)₁₀ / dup(T)₁₁ / dup(T)₁₃ / dup(T)₁₅ / ins(T)₂₉
Variation Type: Indel Insertion and Deletion
Frequency: del(T)₁₁=0.0001 (1/8488, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SLC38A8 : 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	HTRZ	HWEP
Total	Global	8488	TTTTTTTTTTTTTTTTTTTTTTTTT=0.9999	TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0001, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	0.999764	0.000236	0
European	Sub	5504	TTTTTTTTTTTTTTTTTTTTTTTTT=0.9998	TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0002, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	0.999637	0.000363	0
African	Sub	2240	TTTTTTTTTTTTTTTTTTTTTTTTT=1.0000	TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	N/A
African Others	Sub	98	TTTTTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	N/A
African American	Sub	2142	TTTTTTTTTTTTTTTTTTTTTTTTT=1.0000	TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	N/A
Asian	Sub	64	TTTTTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	N/A
East Asian	Sub	50	TTTTTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	N/A
Other Asian	Sub	14	TTTTTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	N/A
Latin American 1	Sub	82	TTTTTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	N/A
Latin American 2	Sub	260	TTTTTTTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	N/A
South Asian	Sub	54	TTTTTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	N/A
Other	Sub	284	TTTTTTTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	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	8488	(T)₂₅=0.9999	del(T)₁₃=0.0000, del(T)₁₂=0.0000, del(T)₁₁=0.0001, del(T)₉=0.0000, del(T)₇=0.0000, del(T)₅=0.0000, del(T)₄=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000, dup(T)₄=0.0000, dup(T)₅=0.0000
Allele Frequency Aggregator	European	Sub	5504	(T)₂₅=0.9998	del(T)₁₃=0.0000, del(T)₁₂=0.0000, del(T)₁₁=0.0002, del(T)₉=0.0000, del(T)₇=0.0000, del(T)₅=0.0000, del(T)₄=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000, dup(T)₄=0.0000, dup(T)₅=0.0000
Allele Frequency Aggregator	African	Sub	2240	(T)₂₅=1.0000	del(T)₁₃=0.0000, del(T)₁₂=0.0000, del(T)₁₁=0.0000, del(T)₉=0.0000, del(T)₇=0.0000, del(T)₅=0.0000, del(T)₄=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000, dup(T)₄=0.0000, dup(T)₅=0.0000
Allele Frequency Aggregator	Other	Sub	284	(T)₂₅=1.000	del(T)₁₃=0.000, del(T)₁₂=0.000, del(T)₁₁=0.000, del(T)₉=0.000, del(T)₇=0.000, del(T)₅=0.000, del(T)₄=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, dup(T)₅=0.000
Allele Frequency Aggregator	Latin American 2	Sub	260	(T)₂₅=1.000	del(T)₁₃=0.000, del(T)₁₂=0.000, del(T)₁₁=0.000, del(T)₉=0.000, del(T)₇=0.000, del(T)₅=0.000, del(T)₄=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, dup(T)₅=0.000
Allele Frequency Aggregator	Latin American 1	Sub	82	(T)₂₅=1.00	del(T)₁₃=0.00, del(T)₁₂=0.00, del(T)₁₁=0.00, del(T)₉=0.00, del(T)₇=0.00, del(T)₅=0.00, del(T)₄=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00
Allele Frequency Aggregator	Asian	Sub	64	(T)₂₅=1.00	del(T)₁₃=0.00, del(T)₁₂=0.00, del(T)₁₁=0.00, del(T)₉=0.00, del(T)₇=0.00, del(T)₅=0.00, del(T)₄=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00
Allele Frequency Aggregator	South Asian	Sub	54	(T)₂₅=1.00	del(T)₁₃=0.00, del(T)₁₂=0.00, del(T)₁₁=0.00, del(T)₉=0.00, del(T)₇=0.00, del(T)₅=0.00, del(T)₄=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00

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 16	NC_000016.10:g.84013437_84013449del
GRCh38.p14 chr 16	NC_000016.10:g.84013438_84013449del
GRCh38.p14 chr 16	NC_000016.10:g.84013439_84013449del
GRCh38.p14 chr 16	NC_000016.10:g.84013440_84013449del
GRCh38.p14 chr 16	NC_000016.10:g.84013441_84013449del
GRCh38.p14 chr 16	NC_000016.10:g.84013443_84013449del
GRCh38.p14 chr 16	NC_000016.10:g.84013444_84013449del
GRCh38.p14 chr 16	NC_000016.10:g.84013445_84013449del
GRCh38.p14 chr 16	NC_000016.10:g.84013446_84013449del
GRCh38.p14 chr 16	NC_000016.10:g.84013447_84013449del
GRCh38.p14 chr 16	NC_000016.10:g.84013448_84013449del
GRCh38.p14 chr 16	NC_000016.10:g.84013449del
GRCh38.p14 chr 16	NC_000016.10:g.84013449dup
GRCh38.p14 chr 16	NC_000016.10:g.84013448_84013449dup
GRCh38.p14 chr 16	NC_000016.10:g.84013447_84013449dup
GRCh38.p14 chr 16	NC_000016.10:g.84013446_84013449dup
GRCh38.p14 chr 16	NC_000016.10:g.84013445_84013449dup
GRCh38.p14 chr 16	NC_000016.10:g.84013444_84013449dup
GRCh38.p14 chr 16	NC_000016.10:g.84013443_84013449dup
GRCh38.p14 chr 16	NC_000016.10:g.84013442_84013449dup
GRCh38.p14 chr 16	NC_000016.10:g.84013441_84013449dup
GRCh38.p14 chr 16	NC_000016.10:g.84013440_84013449dup
GRCh38.p14 chr 16	NC_000016.10:g.84013439_84013449dup
GRCh38.p14 chr 16	NC_000016.10:g.84013437_84013449dup
GRCh38.p14 chr 16	NC_000016.10:g.84013435_84013449dup
GRCh38.p14 chr 16	NC_000016.10:g.84013449_84013450insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 16	NC_000016.9:g.84047042_84047054del
GRCh37.p13 chr 16	NC_000016.9:g.84047043_84047054del
GRCh37.p13 chr 16	NC_000016.9:g.84047044_84047054del
GRCh37.p13 chr 16	NC_000016.9:g.84047045_84047054del
GRCh37.p13 chr 16	NC_000016.9:g.84047046_84047054del
GRCh37.p13 chr 16	NC_000016.9:g.84047048_84047054del
GRCh37.p13 chr 16	NC_000016.9:g.84047049_84047054del
GRCh37.p13 chr 16	NC_000016.9:g.84047050_84047054del
GRCh37.p13 chr 16	NC_000016.9:g.84047051_84047054del
GRCh37.p13 chr 16	NC_000016.9:g.84047052_84047054del
GRCh37.p13 chr 16	NC_000016.9:g.84047053_84047054del
GRCh37.p13 chr 16	NC_000016.9:g.84047054del
GRCh37.p13 chr 16	NC_000016.9:g.84047054dup
GRCh37.p13 chr 16	NC_000016.9:g.84047053_84047054dup
GRCh37.p13 chr 16	NC_000016.9:g.84047052_84047054dup
GRCh37.p13 chr 16	NC_000016.9:g.84047051_84047054dup
GRCh37.p13 chr 16	NC_000016.9:g.84047050_84047054dup
GRCh37.p13 chr 16	NC_000016.9:g.84047049_84047054dup
GRCh37.p13 chr 16	NC_000016.9:g.84047048_84047054dup
GRCh37.p13 chr 16	NC_000016.9:g.84047047_84047054dup
GRCh37.p13 chr 16	NC_000016.9:g.84047046_84047054dup
GRCh37.p13 chr 16	NC_000016.9:g.84047045_84047054dup
GRCh37.p13 chr 16	NC_000016.9:g.84047044_84047054dup
GRCh37.p13 chr 16	NC_000016.9:g.84047042_84047054dup
GRCh37.p13 chr 16	NC_000016.9:g.84047040_84047054dup
GRCh37.p13 chr 16	NC_000016.9:g.84047054_84047055insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SLC38A8 RefSeqGene	NG_034136.1:g.33721_33733del
SLC38A8 RefSeqGene	NG_034136.1:g.33722_33733del
SLC38A8 RefSeqGene	NG_034136.1:g.33723_33733del
SLC38A8 RefSeqGene	NG_034136.1:g.33724_33733del
SLC38A8 RefSeqGene	NG_034136.1:g.33725_33733del
SLC38A8 RefSeqGene	NG_034136.1:g.33727_33733del
SLC38A8 RefSeqGene	NG_034136.1:g.33728_33733del
SLC38A8 RefSeqGene	NG_034136.1:g.33729_33733del
SLC38A8 RefSeqGene	NG_034136.1:g.33730_33733del
SLC38A8 RefSeqGene	NG_034136.1:g.33731_33733del
SLC38A8 RefSeqGene	NG_034136.1:g.33732_33733del
SLC38A8 RefSeqGene	NG_034136.1:g.33733del
SLC38A8 RefSeqGene	NG_034136.1:g.33733dup
SLC38A8 RefSeqGene	NG_034136.1:g.33732_33733dup
SLC38A8 RefSeqGene	NG_034136.1:g.33731_33733dup
SLC38A8 RefSeqGene	NG_034136.1:g.33730_33733dup
SLC38A8 RefSeqGene	NG_034136.1:g.33729_33733dup
SLC38A8 RefSeqGene	NG_034136.1:g.33728_33733dup
SLC38A8 RefSeqGene	NG_034136.1:g.33727_33733dup
SLC38A8 RefSeqGene	NG_034136.1:g.33726_33733dup
SLC38A8 RefSeqGene	NG_034136.1:g.33725_33733dup
SLC38A8 RefSeqGene	NG_034136.1:g.33724_33733dup
SLC38A8 RefSeqGene	NG_034136.1:g.33723_33733dup
SLC38A8 RefSeqGene	NG_034136.1:g.33721_33733dup
SLC38A8 RefSeqGene	NG_034136.1:g.33719_33733dup
SLC38A8 RefSeqGene	NG_034136.1:g.33733_33734insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Gene: SLC38A8, solute carrier family 38 member 8 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SLC38A8 transcript	NM_001080442.3:c.1163-385… NM_001080442.3:c.1163-385_1163-373del	N/A	Intron Variant
SLC38A8 transcript variant X1	XM_017022946.1:c.1163-385… XM_017022946.1:c.1163-385_1163-373del	N/A	Intron 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	(T)₂₅=	del(T)₁₃	del(T)₁₂	del(T)₁₁	del(T)₁₀	del(T)₉	del(T)₇	del(T)₆	del(T)₅	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄	dup(T)₅	dup(T)₆	dup(T)₇	dup(T)₈	dup(T)₉	dup(T)₁₀	dup(T)₁₁	dup(T)₁₃	dup(T)₁₅	ins(T)₂₉
GRCh38.p14 chr 16	NC_000016.10:g.84013425_84013449=	NC_000016.10:g.84013437_84013449del	NC_000016.10:g.84013438_84013449del	NC_000016.10:g.84013439_84013449del	NC_000016.10:g.84013440_84013449del	NC_000016.10:g.84013441_84013449del	NC_000016.10:g.84013443_84013449del	NC_000016.10:g.84013444_84013449del	NC_000016.10:g.84013445_84013449del	NC_000016.10:g.84013446_84013449del	NC_000016.10:g.84013447_84013449del	NC_000016.10:g.84013448_84013449del	NC_000016.10:g.84013449del	NC_000016.10:g.84013449dup	NC_000016.10:g.84013448_84013449dup	NC_000016.10:g.84013447_84013449dup	NC_000016.10:g.84013446_84013449dup	NC_000016.10:g.84013445_84013449dup	NC_000016.10:g.84013444_84013449dup	NC_000016.10:g.84013443_84013449dup	NC_000016.10:g.84013442_84013449dup	NC_000016.10:g.84013441_84013449dup	NC_000016.10:g.84013440_84013449dup	NC_000016.10:g.84013439_84013449dup	NC_000016.10:g.84013437_84013449dup	NC_000016.10:g.84013435_84013449dup	NC_000016.10:g.84013449_84013450insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 16	NC_000016.9:g.84047030_84047054=	NC_000016.9:g.84047042_84047054del	NC_000016.9:g.84047043_84047054del	NC_000016.9:g.84047044_84047054del	NC_000016.9:g.84047045_84047054del	NC_000016.9:g.84047046_84047054del	NC_000016.9:g.84047048_84047054del	NC_000016.9:g.84047049_84047054del	NC_000016.9:g.84047050_84047054del	NC_000016.9:g.84047051_84047054del	NC_000016.9:g.84047052_84047054del	NC_000016.9:g.84047053_84047054del	NC_000016.9:g.84047054del	NC_000016.9:g.84047054dup	NC_000016.9:g.84047053_84047054dup	NC_000016.9:g.84047052_84047054dup	NC_000016.9:g.84047051_84047054dup	NC_000016.9:g.84047050_84047054dup	NC_000016.9:g.84047049_84047054dup	NC_000016.9:g.84047048_84047054dup	NC_000016.9:g.84047047_84047054dup	NC_000016.9:g.84047046_84047054dup	NC_000016.9:g.84047045_84047054dup	NC_000016.9:g.84047044_84047054dup	NC_000016.9:g.84047042_84047054dup	NC_000016.9:g.84047040_84047054dup	NC_000016.9:g.84047054_84047055insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SLC38A8 RefSeqGene	NG_034136.1:g.33709_33733=	NG_034136.1:g.33721_33733del	NG_034136.1:g.33722_33733del	NG_034136.1:g.33723_33733del	NG_034136.1:g.33724_33733del	NG_034136.1:g.33725_33733del	NG_034136.1:g.33727_33733del	NG_034136.1:g.33728_33733del	NG_034136.1:g.33729_33733del	NG_034136.1:g.33730_33733del	NG_034136.1:g.33731_33733del	NG_034136.1:g.33732_33733del	NG_034136.1:g.33733del	NG_034136.1:g.33733dup	NG_034136.1:g.33732_33733dup	NG_034136.1:g.33731_33733dup	NG_034136.1:g.33730_33733dup	NG_034136.1:g.33729_33733dup	NG_034136.1:g.33728_33733dup	NG_034136.1:g.33727_33733dup	NG_034136.1:g.33726_33733dup	NG_034136.1:g.33725_33733dup	NG_034136.1:g.33724_33733dup	NG_034136.1:g.33723_33733dup	NG_034136.1:g.33721_33733dup	NG_034136.1:g.33719_33733dup	NG_034136.1:g.33733_33734insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
SLC38A8 transcript	NM_001080442.1:c.1163-373=	NM_001080442.1:c.1163-385_1163-373del	NM_001080442.1:c.1163-384_1163-373del	NM_001080442.1:c.1163-383_1163-373del	NM_001080442.1:c.1163-382_1163-373del	NM_001080442.1:c.1163-381_1163-373del	NM_001080442.1:c.1163-379_1163-373del	NM_001080442.1:c.1163-378_1163-373del	NM_001080442.1:c.1163-377_1163-373del	NM_001080442.1:c.1163-376_1163-373del	NM_001080442.1:c.1163-375_1163-373del	NM_001080442.1:c.1163-374_1163-373del	NM_001080442.1:c.1163-373del	NM_001080442.1:c.1163-373dup	NM_001080442.1:c.1163-374_1163-373dup	NM_001080442.1:c.1163-375_1163-373dup	NM_001080442.1:c.1163-376_1163-373dup	NM_001080442.1:c.1163-377_1163-373dup	NM_001080442.1:c.1163-378_1163-373dup	NM_001080442.1:c.1163-379_1163-373dup	NM_001080442.1:c.1163-380_1163-373dup	NM_001080442.1:c.1163-381_1163-373dup	NM_001080442.1:c.1163-382_1163-373dup	NM_001080442.1:c.1163-383_1163-373dup	NM_001080442.1:c.1163-385_1163-373dup	NM_001080442.1:c.1163-387_1163-373dup	NM_001080442.1:c.1163-373_1163-372insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
SLC38A8 transcript	NM_001080442.3:c.1163-373=	NM_001080442.3:c.1163-385_1163-373del	NM_001080442.3:c.1163-384_1163-373del	NM_001080442.3:c.1163-383_1163-373del	NM_001080442.3:c.1163-382_1163-373del	NM_001080442.3:c.1163-381_1163-373del	NM_001080442.3:c.1163-379_1163-373del	NM_001080442.3:c.1163-378_1163-373del	NM_001080442.3:c.1163-377_1163-373del	NM_001080442.3:c.1163-376_1163-373del	NM_001080442.3:c.1163-375_1163-373del	NM_001080442.3:c.1163-374_1163-373del	NM_001080442.3:c.1163-373del	NM_001080442.3:c.1163-373dup	NM_001080442.3:c.1163-374_1163-373dup	NM_001080442.3:c.1163-375_1163-373dup	NM_001080442.3:c.1163-376_1163-373dup	NM_001080442.3:c.1163-377_1163-373dup	NM_001080442.3:c.1163-378_1163-373dup	NM_001080442.3:c.1163-379_1163-373dup	NM_001080442.3:c.1163-380_1163-373dup	NM_001080442.3:c.1163-381_1163-373dup	NM_001080442.3:c.1163-382_1163-373dup	NM_001080442.3:c.1163-383_1163-373dup	NM_001080442.3:c.1163-385_1163-373dup	NM_001080442.3:c.1163-387_1163-373dup	NM_001080442.3:c.1163-373_1163-372insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
SLC38A8 transcript variant X1	XM_017022946.1:c.1163-373=	XM_017022946.1:c.1163-385_1163-373del	XM_017022946.1:c.1163-384_1163-373del	XM_017022946.1:c.1163-383_1163-373del	XM_017022946.1:c.1163-382_1163-373del	XM_017022946.1:c.1163-381_1163-373del	XM_017022946.1:c.1163-379_1163-373del	XM_017022946.1:c.1163-378_1163-373del	XM_017022946.1:c.1163-377_1163-373del	XM_017022946.1:c.1163-376_1163-373del	XM_017022946.1:c.1163-375_1163-373del	XM_017022946.1:c.1163-374_1163-373del	XM_017022946.1:c.1163-373del	XM_017022946.1:c.1163-373dup	XM_017022946.1:c.1163-374_1163-373dup	XM_017022946.1:c.1163-375_1163-373dup	XM_017022946.1:c.1163-376_1163-373dup	XM_017022946.1:c.1163-377_1163-373dup	XM_017022946.1:c.1163-378_1163-373dup	XM_017022946.1:c.1163-379_1163-373dup	XM_017022946.1:c.1163-380_1163-373dup	XM_017022946.1:c.1163-381_1163-373dup	XM_017022946.1:c.1163-382_1163-373dup	XM_017022946.1:c.1163-383_1163-373dup	XM_017022946.1:c.1163-385_1163-373dup	XM_017022946.1:c.1163-387_1163-373dup	XM_017022946.1:c.1163-373_1163-372insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

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#.

47 SubSNP, 41 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	MCHAISSO	ss3063853913	Nov 08, 2017 (151)
2	EVA_DECODE	ss3699775763	Jul 13, 2019 (153)
3	EVA	ss3834699395	Apr 27, 2020 (154)
4	KOGIC	ss3978089243	Apr 27, 2020 (154)
5	KOGIC	ss3978089244	Apr 27, 2020 (154)
6	KOGIC	ss3978089245	Apr 27, 2020 (154)
7	KOGIC	ss3978089246	Apr 27, 2020 (154)
8	KOGIC	ss3978089247	Apr 27, 2020 (154)
9	GNOMAD	ss4305492540	Apr 27, 2021 (155)
10	GNOMAD	ss4305492541	Apr 27, 2021 (155)
11	GNOMAD	ss4305492542	Apr 27, 2021 (155)
12	GNOMAD	ss4305492543	Apr 27, 2021 (155)
13	GNOMAD	ss4305492544	Apr 27, 2021 (155)
14	GNOMAD	ss4305492545	Apr 27, 2021 (155)
15	GNOMAD	ss4305492546	Apr 27, 2021 (155)
16	GNOMAD	ss4305492547	Apr 27, 2021 (155)
17	GNOMAD	ss4305492548	Apr 27, 2021 (155)
18	GNOMAD	ss4305492549	Apr 27, 2021 (155)
19	GNOMAD	ss4305492550	Apr 27, 2021 (155)
20	GNOMAD	ss4305492551	Apr 27, 2021 (155)
21	GNOMAD	ss4305492552	Apr 27, 2021 (155)
22	GNOMAD	ss4305492553	Apr 27, 2021 (155)
23	GNOMAD	ss4305492554	Apr 27, 2021 (155)
24	GNOMAD	ss4305492555	Apr 27, 2021 (155)
25	GNOMAD	ss4305492556	Apr 27, 2021 (155)
26	GNOMAD	ss4305492557	Apr 27, 2021 (155)
27	GNOMAD	ss4305492558	Apr 27, 2021 (155)
28	GNOMAD	ss4305492559	Apr 27, 2021 (155)
29	GNOMAD	ss4305492560	Apr 27, 2021 (155)
30	GNOMAD	ss4305492561	Apr 27, 2021 (155)
31	GNOMAD	ss4305492562	Apr 27, 2021 (155)
32	TOPMED	ss5024538978	Apr 27, 2021 (155)
33	TOPMED	ss5024538979	Apr 27, 2021 (155)
34	TOMMO_GENOMICS	ss5220768875	Apr 27, 2021 (155)
35	TOMMO_GENOMICS	ss5220768876	Apr 27, 2021 (155)
36	TOMMO_GENOMICS	ss5220768877	Apr 27, 2021 (155)
37	TOMMO_GENOMICS	ss5220768878	Apr 27, 2021 (155)
38	TOMMO_GENOMICS	ss5220768879	Apr 27, 2021 (155)
39	HUGCELL_USP	ss5495128840	Oct 17, 2022 (156)
40	HUGCELL_USP	ss5495128841	Oct 17, 2022 (156)
41	SANFORD_IMAGENETICS	ss5659414117	Oct 17, 2022 (156)
42	TOMMO_GENOMICS	ss5776124283	Oct 17, 2022 (156)
43	TOMMO_GENOMICS	ss5776124284	Oct 17, 2022 (156)
44	TOMMO_GENOMICS	ss5776124285	Oct 17, 2022 (156)
45	TOMMO_GENOMICS	ss5776124286	Oct 17, 2022 (156)
46	TOMMO_GENOMICS	ss5776124287	Oct 17, 2022 (156)
47	EVA	ss5900145114	Oct 17, 2022 (156)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 497207772 (NC_000016.10:84013424::TTT 2361/59612) Row 497207773 (NC_000016.10:84013424::TTTT 644/59616) Row 497207774 (NC_000016.10:84013424::TTTTT 301/59624)...	-	Apr 27, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 497207772 (NC_000016.10:84013424::TTT 2361/59612) Row 497207773 (NC_000016.10:84013424::TTTT 644/59616) Row 497207774 (NC_000016.10:84013424::TTTTT 301/59624)...	-	Apr 27, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 497207772 (NC_000016.10:84013424::TTT 2361/59612) Row 497207773 (NC_000016.10:84013424::TTTT 644/59616) Row 497207774 (NC_000016.10:84013424::TTTTT 301/59624)...	-	Apr 27, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 497207772 (NC_000016.10:84013424::TTT 2361/59612) Row 497207773 (NC_000016.10:84013424::TTTT 644/59616) Row 497207774 (NC_000016.10:84013424::TTTTT 301/59624)...	-	Apr 27, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 497207772 (NC_000016.10:84013424::TTT 2361/59612) Row 497207773 (NC_000016.10:84013424::TTTT 644/59616) Row 497207774 (NC_000016.10:84013424::TTTTT 301/59624)...	-	Apr 27, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 497207772 (NC_000016.10:84013424::TTT 2361/59612) Row 497207773 (NC_000016.10:84013424::TTTT 644/59616) Row 497207774 (NC_000016.10:84013424::TTTTT 301/59624)...	-	Apr 27, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 497207772 (NC_000016.10:84013424::TTT 2361/59612) Row 497207773 (NC_000016.10:84013424::TTTT 644/59616) Row 497207774 (NC_000016.10:84013424::TTTTT 301/59624)...	-	Apr 27, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 497207772 (NC_000016.10:84013424::TTT 2361/59612) Row 497207773 (NC_000016.10:84013424::TTTT 644/59616) Row 497207774 (NC_000016.10:84013424::TTTTT 301/59624)...	-	Apr 27, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 497207772 (NC_000016.10:84013424::TTT 2361/59612) Row 497207773 (NC_000016.10:84013424::TTTT 644/59616) Row 497207774 (NC_000016.10:84013424::TTTTT 301/59624)...	-	Apr 27, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 497207772 (NC_000016.10:84013424::TTT 2361/59612) Row 497207773 (NC_000016.10:84013424::TTTT 644/59616) Row 497207774 (NC_000016.10:84013424::TTTTT 301/59624)...	-	Apr 27, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 497207772 (NC_000016.10:84013424::TTT 2361/59612) Row 497207773 (NC_000016.10:84013424::TTTT 644/59616) Row 497207774 (NC_000016.10:84013424::TTTTT 301/59624)...	-	Apr 27, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 497207772 (NC_000016.10:84013424::TTT 2361/59612) Row 497207773 (NC_000016.10:84013424::TTTT 644/59616) Row 497207774 (NC_000016.10:84013424::TTTTT 301/59624)...	-	Apr 27, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 497207772 (NC_000016.10:84013424::TTT 2361/59612) Row 497207773 (NC_000016.10:84013424::TTTT 644/59616) Row 497207774 (NC_000016.10:84013424::TTTTT 301/59624)...	-	Apr 27, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 497207772 (NC_000016.10:84013424::TTT 2361/59612) Row 497207773 (NC_000016.10:84013424::TTTT 644/59616) Row 497207774 (NC_000016.10:84013424::TTTTT 301/59624)...	-	Apr 27, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 497207772 (NC_000016.10:84013424::TTT 2361/59612) Row 497207773 (NC_000016.10:84013424::TTTT 644/59616) Row 497207774 (NC_000016.10:84013424::TTTTT 301/59624)...	-	Apr 27, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 497207772 (NC_000016.10:84013424::TTT 2361/59612) Row 497207773 (NC_000016.10:84013424::TTTT 644/59616) Row 497207774 (NC_000016.10:84013424::TTTTT 301/59624)...	-	Apr 27, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 497207772 (NC_000016.10:84013424::TTT 2361/59612) Row 497207773 (NC_000016.10:84013424::TTTT 644/59616) Row 497207774 (NC_000016.10:84013424::TTTTT 301/59624)...	-	Apr 27, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 497207772 (NC_000016.10:84013424::TTT 2361/59612) Row 497207773 (NC_000016.10:84013424::TTTT 644/59616) Row 497207774 (NC_000016.10:84013424::TTTTT 301/59624)...	-	Apr 27, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 497207772 (NC_000016.10:84013424::TTT 2361/59612) Row 497207773 (NC_000016.10:84013424::TTTT 644/59616) Row 497207774 (NC_000016.10:84013424::TTTTT 301/59624)...	-	Apr 27, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 497207772 (NC_000016.10:84013424::TTT 2361/59612) Row 497207773 (NC_000016.10:84013424::TTTT 644/59616) Row 497207774 (NC_000016.10:84013424::TTTTT 301/59624)...	-	Apr 27, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 497207772 (NC_000016.10:84013424::TTT 2361/59612) Row 497207773 (NC_000016.10:84013424::TTTT 644/59616) Row 497207774 (NC_000016.10:84013424::TTTTT 301/59624)...	-	Apr 27, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 497207772 (NC_000016.10:84013424::TTT 2361/59612) Row 497207773 (NC_000016.10:84013424::TTTT 644/59616) Row 497207774 (NC_000016.10:84013424::TTTTT 301/59624)...	-	Apr 27, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 497207772 (NC_000016.10:84013424::TTT 2361/59612) Row 497207773 (NC_000016.10:84013424::TTTT 644/59616) Row 497207774 (NC_000016.10:84013424::TTTTT 301/59624)...	-	Apr 27, 2021 (155)
71	Korean Genome Project Submission ignored due to conflicting rows: Row 34467244 (NC_000016.10:84013426::T 276/1740) Row 34467245 (NC_000016.10:84013426::TT 118/1740) Row 34467246 (NC_000016.10:84013426::TTT 70/1740)...	-	Apr 27, 2020 (154)
72	Korean Genome Project Submission ignored due to conflicting rows: Row 34467244 (NC_000016.10:84013426::T 276/1740) Row 34467245 (NC_000016.10:84013426::TT 118/1740) Row 34467246 (NC_000016.10:84013426::TTT 70/1740)...	-	Apr 27, 2020 (154)
73	Korean Genome Project Submission ignored due to conflicting rows: Row 34467244 (NC_000016.10:84013426::T 276/1740) Row 34467245 (NC_000016.10:84013426::TT 118/1740) Row 34467246 (NC_000016.10:84013426::TTT 70/1740)...	-	Apr 27, 2020 (154)
74	Korean Genome Project Submission ignored due to conflicting rows: Row 34467244 (NC_000016.10:84013426::T 276/1740) Row 34467245 (NC_000016.10:84013426::TT 118/1740) Row 34467246 (NC_000016.10:84013426::TTT 70/1740)...	-	Apr 27, 2020 (154)
75	Korean Genome Project Submission ignored due to conflicting rows: Row 34467244 (NC_000016.10:84013426::T 276/1740) Row 34467245 (NC_000016.10:84013426::TT 118/1740) Row 34467246 (NC_000016.10:84013426::TTT 70/1740)...	-	Apr 27, 2020 (154)
76	8.3KJPN Submission ignored due to conflicting rows: Row 78738182 (NC_000016.9:84047029::TTT 460/14850) Row 78738183 (NC_000016.9:84047029:TT: 438/14850) Row 78738184 (NC_000016.9:84047029::TT 287/14850)...	-	Apr 27, 2021 (155)
77	8.3KJPN Submission ignored due to conflicting rows: Row 78738182 (NC_000016.9:84047029::TTT 460/14850) Row 78738183 (NC_000016.9:84047029:TT: 438/14850) Row 78738184 (NC_000016.9:84047029::TT 287/14850)...	-	Apr 27, 2021 (155)
78	8.3KJPN Submission ignored due to conflicting rows: Row 78738182 (NC_000016.9:84047029::TTT 460/14850) Row 78738183 (NC_000016.9:84047029:TT: 438/14850) Row 78738184 (NC_000016.9:84047029::TT 287/14850)...	-	Apr 27, 2021 (155)
79	8.3KJPN Submission ignored due to conflicting rows: Row 78738182 (NC_000016.9:84047029::TTT 460/14850) Row 78738183 (NC_000016.9:84047029:TT: 438/14850) Row 78738184 (NC_000016.9:84047029::TT 287/14850)...	-	Apr 27, 2021 (155)
80	8.3KJPN Submission ignored due to conflicting rows: Row 78738182 (NC_000016.9:84047029::TTT 460/14850) Row 78738183 (NC_000016.9:84047029:TT: 438/14850) Row 78738184 (NC_000016.9:84047029::TT 287/14850)...	-	Apr 27, 2021 (155)
81	14KJPN Submission ignored due to conflicting rows: Row 109961387 (NC_000016.10:84013424:TT: 783/23784) Row 109961388 (NC_000016.10:84013424::T 2280/23784) Row 109961389 (NC_000016.10:84013424::TTT 787/23784)...	-	Oct 17, 2022 (156)
82	14KJPN Submission ignored due to conflicting rows: Row 109961387 (NC_000016.10:84013424:TT: 783/23784) Row 109961388 (NC_000016.10:84013424::T 2280/23784) Row 109961389 (NC_000016.10:84013424::TTT 787/23784)...	-	Oct 17, 2022 (156)
83	14KJPN Submission ignored due to conflicting rows: Row 109961387 (NC_000016.10:84013424:TT: 783/23784) Row 109961388 (NC_000016.10:84013424::T 2280/23784) Row 109961389 (NC_000016.10:84013424::TTT 787/23784)...	-	Oct 17, 2022 (156)
84	14KJPN Submission ignored due to conflicting rows: Row 109961387 (NC_000016.10:84013424:TT: 783/23784) Row 109961388 (NC_000016.10:84013424::T 2280/23784) Row 109961389 (NC_000016.10:84013424::TTT 787/23784)...	-	Oct 17, 2022 (156)
85	14KJPN Submission ignored due to conflicting rows: Row 109961387 (NC_000016.10:84013424:TT: 783/23784) Row 109961388 (NC_000016.10:84013424::T 2280/23784) Row 109961389 (NC_000016.10:84013424::TTT 787/23784)...	-	Oct 17, 2022 (156)
86	TopMed Submission ignored due to conflicting rows: Row 240084639 (NC_000016.10:84013424:TTTTTTT: 1/264690) Row 240084640 (NC_000016.10:84013424:TTTTTTTTTTT: 6/264690)	-	Apr 27, 2021 (155)
87	TopMed Submission ignored due to conflicting rows: Row 240084639 (NC_000016.10:84013424:TTTTTTT: 1/264690) Row 240084640 (NC_000016.10:84013424:TTTTTTTTTTT: 6/264690)	-	Apr 27, 2021 (155)
88	ALFA	NC_000016.10 - 84013425	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4305492562	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTT:	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
3515164038	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss4305492561	NC_000016.10:84013424:TTTTTTTTTTTT:	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
3515164038	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss4305492560, ss5024538979	NC_000016.10:84013424:TTTTTTTTTTT:	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
3515164038	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss5659414117	NC_000016.9:84047029:TTTTTTTTTT:	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT
ss4305492559	NC_000016.10:84013424:TTTTTTTTT:	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
3515164038	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss4305492558, ss5024538978	NC_000016.10:84013424:TTTTTTT:	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
3515164038	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4305492557	NC_000016.10:84013424:TTTTTT:	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss4305492556, ss5495128841	NC_000016.10:84013424:TTTTT:	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
3515164038	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss4305492555	NC_000016.10:84013424:TTTT:	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
3515164038	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss4305492554	NC_000016.10:84013424:TTT:	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss5220768876	NC_000016.9:84047029:TT:	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3978089247, ss4305492553, ss5776124283	NC_000016.10:84013424:TT:	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
3515164038	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss5220768879	NC_000016.9:84047029:T:	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4305492552, ss5776124287	NC_000016.10:84013424:T:	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
3515164038	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3978089246	NC_000016.10:84013425:T:	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss5220768878	NC_000016.9:84047029::T	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss5495128840, ss5776124284, ss5900145114	NC_000016.10:84013424::T	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
3515164038	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3978089243	NC_000016.10:84013426::T	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3834699395, ss5220768877	NC_000016.9:84047029::TT	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3063853913, ss5776124286	NC_000016.10:84013424::TT	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
3515164038	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3978089244	NC_000016.10:84013426::TT	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss5220768875	NC_000016.9:84047029::TTT	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4305492540, ss5776124285	NC_000016.10:84013424::TTT	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
3515164038	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3978089245	NC_000016.10:84013426::TTT	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4305492541	NC_000016.10:84013424::TTTT	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
3515164038	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3699775763	NC_000016.10:84013433::TTTT	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4305492542	NC_000016.10:84013424::TTTTT	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
3515164038	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4305492543	NC_000016.10:84013424::TTTTTT	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4305492544	NC_000016.10:84013424::TTTTTTT	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4305492545	NC_000016.10:84013424::TTTTTTTT	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4305492546	NC_000016.10:84013424::TTTTTTTTT	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4305492547	NC_000016.10:84013424::TTTTTTTTTT	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4305492548	NC_000016.10:84013424::TTTTTTTTTTT	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4305492549	NC_000016.10:84013424::TTTTTTTTTTT… NC_000016.10:84013424::TTTTTTTTTTTTT	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4305492550	NC_000016.10:84013424::TTTTTTTTTTT… NC_000016.10:84013424::TTTTTTTTTTTTTTT	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4305492551	NC_000016.10:84013424::TTTTTTTTTTT… NC_000016.10:84013424::TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000016.10:84013424:TTTTTTTTTTTT… NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(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 rs1221293803

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1221293803