Name: rs1481324887
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.

rs1481324887

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr20:49881028 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: G>A / G>T
Variation Type: SNV Single Nucleotide Variation
Frequency: None

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SLC9A8 : Stop Gained
Publications: 0 citations
Genomic View: See rs on genome

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").

None

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 20	NC_000020.11:g.49881028G>A
GRCh38.p14 chr 20	NC_000020.11:g.49881028G>T
GRCh37.p13 chr 20	NC_000020.10:g.48497565G>A
GRCh37.p13 chr 20	NC_000020.10:g.48497565G>T

Gene: SLC9A8, solute carrier family 9 member A8 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SLC9A8 transcript variant 2	NM_015266.3:c.1263G>A	W [TGG] > * [TGA]	Coding Sequence Variant
sodium/hydrogen exchanger 8 isoform 2	NP_056081.1:p.Trp421Ter	W (Trp) > * (Ter)	Stop Gained
SLC9A8 transcript variant 2	NM_015266.3:c.1263G>T	W [TGG] > C [TGT]	Coding Sequence Variant
sodium/hydrogen exchanger 8 isoform 2	NP_056081.1:p.Trp421Cys	W (Trp) > C (Cys)	Missense Variant
SLC9A8 transcript variant 1	NM_001260491.2:c.1311G>A	W [TGG] > * [TGA]	Coding Sequence Variant
sodium/hydrogen exchanger 8 isoform 1	NP_001247420.1:p.Trp437Ter	W (Trp) > * (Ter)	Stop Gained
SLC9A8 transcript variant 1	NM_001260491.2:c.1311G>T	W [TGG] > C [TGT]	Coding Sequence Variant
sodium/hydrogen exchanger 8 isoform 1	NP_001247420.1:p.Trp437Cys	W (Trp) > C (Cys)	Missense Variant
SLC9A8 transcript variant 4	NR_048538.2:n.1239G>A	N/A	Non Coding Transcript Variant
SLC9A8 transcript variant 4	NR_048538.2:n.1239G>T	N/A	Non Coding Transcript Variant
SLC9A8 transcript variant 6	NR_048540.2:n.1021G>A	N/A	Non Coding Transcript Variant
SLC9A8 transcript variant 6	NR_048540.2:n.1021G>T	N/A	Non Coding Transcript Variant
SLC9A8 transcript variant 3	NR_048537.2:n.1323G>A	N/A	Non Coding Transcript Variant
SLC9A8 transcript variant 3	NR_048537.2:n.1323G>T	N/A	Non Coding Transcript Variant
SLC9A8 transcript variant 5	NR_048539.2:n.1195G>A	N/A	Non Coding Transcript Variant
SLC9A8 transcript variant 5	NR_048539.2:n.1195G>T	N/A	Non Coding Transcript Variant
SLC9A8 transcript variant X12	XM_011528745.3:c.	N/A	Genic Downstream Transcript Variant
SLC9A8 transcript variant X13	XM_047440073.1:c.	N/A	Genic Downstream Transcript Variant
SLC9A8 transcript variant X1	XM_011528736.3:c.1410G>A	W [TGG] > * [TGA]	Coding Sequence Variant
sodium/hydrogen exchanger 8 isoform X1	XP_011527038.1:p.Trp470Ter	W (Trp) > * (Ter)	Stop Gained
SLC9A8 transcript variant X1	XM_011528736.3:c.1410G>T	W [TGG] > C [TGT]	Coding Sequence Variant
sodium/hydrogen exchanger 8 isoform X1	XP_011527038.1:p.Trp470Cys	W (Trp) > C (Cys)	Missense Variant
SLC9A8 transcript variant X2	XM_006723756.2:c.1362G>A	W [TGG] > * [TGA]	Coding Sequence Variant
sodium/hydrogen exchanger 8 isoform X2	XP_006723819.1:p.Trp454Ter	W (Trp) > * (Ter)	Stop Gained
SLC9A8 transcript variant X2	XM_006723756.2:c.1362G>T	W [TGG] > C [TGT]	Coding Sequence Variant
sodium/hydrogen exchanger 8 isoform X2	XP_006723819.1:p.Trp454Cys	W (Trp) > C (Cys)	Missense Variant
SLC9A8 transcript variant X3	XM_011528737.2:c.1326G>A	W [TGG] > * [TGA]	Coding Sequence Variant
sodium/hydrogen exchanger 8 isoform X3	XP_011527039.1:p.Trp442Ter	W (Trp) > * (Ter)	Stop Gained
SLC9A8 transcript variant X3	XM_011528737.2:c.1326G>T	W [TGG] > C [TGT]	Coding Sequence Variant
sodium/hydrogen exchanger 8 isoform X3	XP_011527039.1:p.Trp442Cys	W (Trp) > C (Cys)	Missense Variant
SLC9A8 transcript variant X4	XM_011528738.3:c.1293G>A	W [TGG] > * [TGA]	Coding Sequence Variant
sodium/hydrogen exchanger 8 isoform X4	XP_011527040.1:p.Trp431Ter	W (Trp) > * (Ter)	Stop Gained
SLC9A8 transcript variant X4	XM_011528738.3:c.1293G>T	W [TGG] > C [TGT]	Coding Sequence Variant
sodium/hydrogen exchanger 8 isoform X4	XP_011527040.1:p.Trp431Cys	W (Trp) > C (Cys)	Missense Variant
SLC9A8 transcript variant X5	XM_047440069.1:c.1233G>A	W [TGG] > * [TGA]	Coding Sequence Variant
sodium/hydrogen exchanger 8 isoform X5	XP_047296025.1:p.Trp411Ter	W (Trp) > * (Ter)	Stop Gained
SLC9A8 transcript variant X5	XM_047440069.1:c.1233G>T	W [TGG] > C [TGT]	Coding Sequence Variant
sodium/hydrogen exchanger 8 isoform X5	XP_047296025.1:p.Trp411Cys	W (Trp) > C (Cys)	Missense Variant
SLC9A8 transcript variant X6	XM_017027754.3:c.1410G>A	W [TGG] > * [TGA]	Coding Sequence Variant
sodium/hydrogen exchanger 8 isoform X6	XP_016883243.1:p.Trp470Ter	W (Trp) > * (Ter)	Stop Gained
SLC9A8 transcript variant X6	XM_017027754.3:c.1410G>T	W [TGG] > C [TGT]	Coding Sequence Variant
sodium/hydrogen exchanger 8 isoform X6	XP_016883243.1:p.Trp470Cys	W (Trp) > C (Cys)	Missense Variant
SLC9A8 transcript variant X7	XM_011528740.3:c.1410G>A	W [TGG] > * [TGA]	Coding Sequence Variant
sodium/hydrogen exchanger 8 isoform X7	XP_011527042.1:p.Trp470Ter	W (Trp) > * (Ter)	Stop Gained
SLC9A8 transcript variant X7	XM_011528740.3:c.1410G>T	W [TGG] > C [TGT]	Coding Sequence Variant
sodium/hydrogen exchanger 8 isoform X7	XP_011527042.1:p.Trp470Cys	W (Trp) > C (Cys)	Missense Variant
SLC9A8 transcript variant X8	XM_011528741.3:c.1194G>A	W [TGG] > * [TGA]	Coding Sequence Variant
sodium/hydrogen exchanger 8 isoform X8	XP_011527043.1:p.Trp398Ter	W (Trp) > * (Ter)	Stop Gained
SLC9A8 transcript variant X8	XM_011528741.3:c.1194G>T	W [TGG] > C [TGT]	Coding Sequence Variant
sodium/hydrogen exchanger 8 isoform X8	XP_011527043.1:p.Trp398Cys	W (Trp) > C (Cys)	Missense Variant
SLC9A8 transcript variant X9	XM_047440070.1:c.1179G>A	W [TGG] > * [TGA]	Coding Sequence Variant
sodium/hydrogen exchanger 8 isoform X9	XP_047296026.1:p.Trp393Ter	W (Trp) > * (Ter)	Stop Gained
SLC9A8 transcript variant X9	XM_047440070.1:c.1179G>T	W [TGG] > C [TGT]	Coding Sequence Variant
sodium/hydrogen exchanger 8 isoform X9	XP_047296026.1:p.Trp393Cys	W (Trp) > C (Cys)	Missense Variant
SLC9A8 transcript variant X10	XM_047440071.1:c.1146G>A	W [TGG] > * [TGA]	Coding Sequence Variant
sodium/hydrogen exchanger 8 isoform X10	XP_047296027.1:p.Trp382Ter	W (Trp) > * (Ter)	Stop Gained
SLC9A8 transcript variant X10	XM_047440071.1:c.1146G>T	W [TGG] > C [TGT]	Coding Sequence Variant
sodium/hydrogen exchanger 8 isoform X10	XP_047296027.1:p.Trp382Cys	W (Trp) > C (Cys)	Missense Variant
SLC9A8 transcript variant X11	XM_047440072.1:c.705G>A	W [TGG] > * [TGA]	Coding Sequence Variant
sodium/hydrogen exchanger 8 isoform X11	XP_047296028.1:p.Trp235Ter	W (Trp) > * (Ter)	Stop Gained
SLC9A8 transcript variant X11	XM_047440072.1:c.705G>T	W [TGG] > C [TGT]	Coding Sequence Variant
sodium/hydrogen exchanger 8 isoform X11	XP_047296028.1:p.Trp235Cys	W (Trp) > C (Cys)	Missense 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=	A	T
GRCh38.p14 chr 20	NC_000020.11:g.49881028=	NC_000020.11:g.49881028G>A	NC_000020.11:g.49881028G>T
GRCh37.p13 chr 20	NC_000020.10:g.48497565=	NC_000020.10:g.48497565G>A	NC_000020.10:g.48497565G>T
SLC9A8 transcript variant X1	XM_011528736.3:c.1410=	XM_011528736.3:c.1410G>A	XM_011528736.3:c.1410G>T
SLC9A8 transcript variant X1	XM_011528736.2:c.1410=	XM_011528736.2:c.1410G>A	XM_011528736.2:c.1410G>T
SLC9A8 transcript variant X1	XM_011528736.1:c.1410=	XM_011528736.1:c.1410G>A	XM_011528736.1:c.1410G>T
SLC9A8 transcript variant X4	XM_011528738.3:c.1293=	XM_011528738.3:c.1293G>A	XM_011528738.3:c.1293G>T
SLC9A8 transcript variant X4	XM_011528738.2:c.1293=	XM_011528738.2:c.1293G>A	XM_011528738.2:c.1293G>T
SLC9A8 transcript variant X4	XM_011528738.1:c.1293=	XM_011528738.1:c.1293G>A	XM_011528738.1:c.1293G>T
SLC9A8 transcript variant 2	NM_015266.3:c.1263=	NM_015266.3:c.1263G>A	NM_015266.3:c.1263G>T
SLC9A8 transcript variant 2	NM_015266.2:c.1263=	NM_015266.2:c.1263G>A	NM_015266.2:c.1263G>T
SLC9A8 transcript variant X8	XM_011528741.3:c.1194=	XM_011528741.3:c.1194G>A	XM_011528741.3:c.1194G>T
SLC9A8 transcript variant X8	XM_011528741.2:c.1194=	XM_011528741.2:c.1194G>A	XM_011528741.2:c.1194G>T
SLC9A8 transcript variant X8	XM_011528741.1:c.1194=	XM_011528741.1:c.1194G>A	XM_011528741.1:c.1194G>T
SLC9A8 transcript variant X6	XM_017027754.3:c.1410=	XM_017027754.3:c.1410G>A	XM_017027754.3:c.1410G>T
SLC9A8 transcript variant X6	XM_017027754.2:c.1410=	XM_017027754.2:c.1410G>A	XM_017027754.2:c.1410G>T
SLC9A8 transcript variant X6	XM_017027754.1:c.1410=	XM_017027754.1:c.1410G>A	XM_017027754.1:c.1410G>T
SLC9A8 transcript variant X7	XM_011528740.3:c.1410=	XM_011528740.3:c.1410G>A	XM_011528740.3:c.1410G>T
SLC9A8 transcript variant X7	XM_011528740.2:c.1410=	XM_011528740.2:c.1410G>A	XM_011528740.2:c.1410G>T
SLC9A8 transcript variant X7	XM_011528740.1:c.1410=	XM_011528740.1:c.1410G>A	XM_011528740.1:c.1410G>T
SLC9A8 transcript variant X2	XM_006723756.2:c.1362=	XM_006723756.2:c.1362G>A	XM_006723756.2:c.1362G>T
SLC9A8 transcript variant X2	XM_006723756.1:c.1362=	XM_006723756.1:c.1362G>A	XM_006723756.1:c.1362G>T
SLC9A8 transcript variant X3	XM_011528737.2:c.1326=	XM_011528737.2:c.1326G>A	XM_011528737.2:c.1326G>T
SLC9A8 transcript variant X3	XM_011528737.1:c.1326=	XM_011528737.1:c.1326G>A	XM_011528737.1:c.1326G>T
SLC9A8 transcript variant 1	NM_001260491.2:c.1311=	NM_001260491.2:c.1311G>A	NM_001260491.2:c.1311G>T
SLC9A8 transcript variant 1	NM_001260491.1:c.1311=	NM_001260491.1:c.1311G>A	NM_001260491.1:c.1311G>T
SLC9A8 transcript variant 3	NR_048537.2:n.1323=	NR_048537.2:n.1323G>A	NR_048537.2:n.1323G>T
SLC9A8 transcript variant 3	NR_048537.1:n.1438=	NR_048537.1:n.1438G>A	NR_048537.1:n.1438G>T
SLC9A8 transcript variant 4	NR_048538.2:n.1239=	NR_048538.2:n.1239G>A	NR_048538.2:n.1239G>T
SLC9A8 transcript variant 4	NR_048538.1:n.1354=	NR_048538.1:n.1354G>A	NR_048538.1:n.1354G>T
SLC9A8 transcript variant 5	NR_048539.2:n.1195=	NR_048539.2:n.1195G>A	NR_048539.2:n.1195G>T
SLC9A8 transcript variant 5	NR_048539.1:n.1310=	NR_048539.1:n.1310G>A	NR_048539.1:n.1310G>T
SLC9A8 transcript variant 6	NR_048540.2:n.1021=	NR_048540.2:n.1021G>A	NR_048540.2:n.1021G>T
SLC9A8 transcript variant 6	NR_048540.1:n.1136=	NR_048540.1:n.1136G>A	NR_048540.1:n.1136G>T
SLC9A8 transcript variant X5	XM_047440069.1:c.1233=	XM_047440069.1:c.1233G>A	XM_047440069.1:c.1233G>T
SLC9A8 transcript variant X9	XM_047440070.1:c.1179=	XM_047440070.1:c.1179G>A	XM_047440070.1:c.1179G>T
SLC9A8 transcript variant X10	XM_047440071.1:c.1146=	XM_047440071.1:c.1146G>A	XM_047440071.1:c.1146G>T
SLC9A8 transcript variant X11	XM_047440072.1:c.705=	XM_047440072.1:c.705G>A	XM_047440072.1:c.705G>T
sodium/hydrogen exchanger 8 isoform X1	XP_011527038.1:p.Trp470=	XP_011527038.1:p.Trp470Ter	XP_011527038.1:p.Trp470Cys
sodium/hydrogen exchanger 8 isoform X4	XP_011527040.1:p.Trp431=	XP_011527040.1:p.Trp431Ter	XP_011527040.1:p.Trp431Cys
sodium/hydrogen exchanger 8 isoform 2	NP_056081.1:p.Trp421=	NP_056081.1:p.Trp421Ter	NP_056081.1:p.Trp421Cys
sodium/hydrogen exchanger 8 isoform X8	XP_011527043.1:p.Trp398=	XP_011527043.1:p.Trp398Ter	XP_011527043.1:p.Trp398Cys
sodium/hydrogen exchanger 8 isoform X6	XP_016883243.1:p.Trp470=	XP_016883243.1:p.Trp470Ter	XP_016883243.1:p.Trp470Cys
sodium/hydrogen exchanger 8 isoform X7	XP_011527042.1:p.Trp470=	XP_011527042.1:p.Trp470Ter	XP_011527042.1:p.Trp470Cys
sodium/hydrogen exchanger 8 isoform X2	XP_006723819.1:p.Trp454=	XP_006723819.1:p.Trp454Ter	XP_006723819.1:p.Trp454Cys
sodium/hydrogen exchanger 8 isoform X3	XP_011527039.1:p.Trp442=	XP_011527039.1:p.Trp442Ter	XP_011527039.1:p.Trp442Cys
sodium/hydrogen exchanger 8 isoform 1	NP_001247420.1:p.Trp437=	NP_001247420.1:p.Trp437Ter	NP_001247420.1:p.Trp437Cys
sodium/hydrogen exchanger 8 isoform X5	XP_047296025.1:p.Trp411=	XP_047296025.1:p.Trp411Ter	XP_047296025.1:p.Trp411Cys
sodium/hydrogen exchanger 8 isoform X9	XP_047296026.1:p.Trp393=	XP_047296026.1:p.Trp393Ter	XP_047296026.1:p.Trp393Cys
sodium/hydrogen exchanger 8 isoform X10	XP_047296027.1:p.Trp382=	XP_047296027.1:p.Trp382Ter	XP_047296027.1:p.Trp382Cys
sodium/hydrogen exchanger 8 isoform X11	XP_047296028.1:p.Trp235=	XP_047296028.1:p.Trp235Ter	XP_047296028.1:p.Trp235Cys

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#.

1 SubSNP, 2 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	GNOMAD	ss2744670046	Nov 08, 2017 (151)
2	gnomAD - Exomes Submission ignored due to conflicting rows: Row 13993382 (NC_000020.10:48497564:G:G 251461/251462, NC_000020.10:48497564:G:A 1/251462) Row 13993383 (NC_000020.10:48497564:G:G 251461/251462, NC_000020.10:48497564:G:T 1/251462)	-	Jul 13, 2019 (153)
3	gnomAD - Exomes Submission ignored due to conflicting rows: Row 13993382 (NC_000020.10:48497564:G:G 251461/251462, NC_000020.10:48497564:G:A 1/251462) Row 13993383 (NC_000020.10:48497564:G:G 251461/251462, NC_000020.10:48497564:G:T 1/251462)	-	Jul 13, 2019 (153)

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
ss2744670046	NC_000020.10:48497564:G:A	NC_000020.11:49881027:G:A	(self)
ss2744670046	NC_000020.10:48497564:G:T	NC_000020.11:49881027:G:T	(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 rs1481324887

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1481324887