Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs199790096

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr18:79253525 (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
T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
None
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ATP9B : Missense Variant
Publications
0 citations
Genomic View
See rs on genome
Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

None
Help

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

Genomic Placements
Sequence name Change
GRCh38.p14 chr 18 NC_000018.10:g.79253525T>C
GRCh37.p13 chr 18 NC_000018.9:g.77013525T>C
Gene: ATP9B, ATPase phospholipid transporting 9B (putative) (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ATP9B transcript variant 1 NM_198531.5:c.1252T>C Y [TAC] > H [CAC] Coding Sequence Variant
probable phospholipid-transporting ATPase IIB isoform 1 NP_940933.3:p.Tyr418His Y (Tyr) > H (His) Missense Variant
ATP9B transcript variant 2 NM_001306085.2:c.1252T>C Y [TAC] > H [CAC] Coding Sequence Variant
probable phospholipid-transporting ATPase IIB isoform 2 NP_001293014.1:p.Tyr418His Y (Tyr) > H (His) Missense Variant
ATP9B transcript variant 3 NR_148360.2:n.1269T>C N/A Non Coding Transcript Variant
ATP9B transcript variant X33 XM_047437502.1:c. N/A Genic Upstream Transcript Variant
ATP9B transcript variant X1 XM_011525963.3:c.1255T>C Y [TAC] > H [CAC] Coding Sequence Variant
probable phospholipid-transporting ATPase IIB isoform X1 XP_011524265.1:p.Tyr419His Y (Tyr) > H (His) Missense Variant
ATP9B transcript variant X2 XM_011525964.3:c.1252T>C Y [TAC] > H [CAC] Coding Sequence Variant
probable phospholipid-transporting ATPase IIB isoform X2 XP_011524266.1:p.Tyr418His Y (Tyr) > H (His) Missense Variant
ATP9B transcript variant X3 XM_017025726.2:c.1255T>C Y [TAC] > H [CAC] Coding Sequence Variant
probable phospholipid-transporting ATPase IIB isoform X3 XP_016881215.1:p.Tyr419His Y (Tyr) > H (His) Missense Variant
ATP9B transcript variant X4 XM_017025727.2:c.1255T>C Y [TAC] > H [CAC] Coding Sequence Variant
probable phospholipid-transporting ATPase IIB isoform X4 XP_016881216.1:p.Tyr419His Y (Tyr) > H (His) Missense Variant
ATP9B transcript variant X5 XM_047437489.1:c.1252T>C Y [TAC] > H [CAC] Coding Sequence Variant
probable phospholipid-transporting ATPase IIB isoform X5 XP_047293445.1:p.Tyr418His Y (Tyr) > H (His) Missense Variant
ATP9B transcript variant X6 XM_017025728.3:c.1255T>C Y [TAC] > H [CAC] Coding Sequence Variant
probable phospholipid-transporting ATPase IIB isoform X6 XP_016881217.1:p.Tyr419His Y (Tyr) > H (His) Missense Variant
ATP9B transcript variant X7 XM_017025729.2:c.1255T>C Y [TAC] > H [CAC] Coding Sequence Variant
probable phospholipid-transporting ATPase IIB isoform X7 XP_016881218.1:p.Tyr419His Y (Tyr) > H (His) Missense Variant
ATP9B transcript variant X8 XM_017025730.2:c.1255T>C Y [TAC] > H [CAC] Coding Sequence Variant
probable phospholipid-transporting ATPase IIB isoform X8 XP_016881219.1:p.Tyr419His Y (Tyr) > H (His) Missense Variant
ATP9B transcript variant X9 XM_047437490.1:c.1135T>C Y [TAC] > H [CAC] Coding Sequence Variant
probable phospholipid-transporting ATPase IIB isoform X9 XP_047293446.1:p.Tyr379His Y (Tyr) > H (His) Missense Variant
ATP9B transcript variant X10 XM_011525966.3:c.1135T>C Y [TAC] > H [CAC] Coding Sequence Variant
probable phospholipid-transporting ATPase IIB isoform X10 XP_011524268.1:p.Tyr379His Y (Tyr) > H (His) Missense Variant
ATP9B transcript variant X11 XM_017025731.2:c.1255T>C Y [TAC] > H [CAC] Coding Sequence Variant
probable phospholipid-transporting ATPase IIB isoform X11 XP_016881220.1:p.Tyr419His Y (Tyr) > H (His) Missense Variant
ATP9B transcript variant X12 XM_047437491.1:c.1135T>C Y [TAC] > H [CAC] Coding Sequence Variant
probable phospholipid-transporting ATPase IIB isoform X12 XP_047293447.1:p.Tyr379His Y (Tyr) > H (His) Missense Variant
ATP9B transcript variant X13 XM_017025732.2:c.1255T>C Y [TAC] > H [CAC] Coding Sequence Variant
probable phospholipid-transporting ATPase IIB isoform X13 XP_016881221.1:p.Tyr419His Y (Tyr) > H (His) Missense Variant
ATP9B transcript variant X14 XM_047437492.1:c.1252T>C Y [TAC] > H [CAC] Coding Sequence Variant
probable phospholipid-transporting ATPase IIB isoform X14 XP_047293448.1:p.Tyr418His Y (Tyr) > H (His) Missense Variant
ATP9B transcript variant X15 XM_047437493.1:c.1135T>C Y [TAC] > H [CAC] Coding Sequence Variant
probable phospholipid-transporting ATPase IIB isoform X15 XP_047293449.1:p.Tyr379His Y (Tyr) > H (His) Missense Variant
ATP9B transcript variant X16 XM_017025733.2:c.1255T>C Y [TAC] > H [CAC] Coding Sequence Variant
probable phospholipid-transporting ATPase IIB isoform X16 XP_016881222.1:p.Tyr419His Y (Tyr) > H (His) Missense Variant
ATP9B transcript variant X17 XM_047437494.1:c.1252T>C Y [TAC] > H [CAC] Coding Sequence Variant
probable phospholipid-transporting ATPase IIB isoform X17 XP_047293450.1:p.Tyr418His Y (Tyr) > H (His) Missense Variant
ATP9B transcript variant X18 XM_017025734.2:c.1255T>C Y [TAC] > H [CAC] Coding Sequence Variant
probable phospholipid-transporting ATPase IIB isoform X18 XP_016881223.1:p.Tyr419His Y (Tyr) > H (His) Missense Variant
ATP9B transcript variant X19 XM_017025735.3:c.1255T>C Y [TAC] > H [CAC] Coding Sequence Variant
probable phospholipid-transporting ATPase IIB isoform X19 XP_016881224.1:p.Tyr419His Y (Tyr) > H (His) Missense Variant
ATP9B transcript variant X20 XM_047437495.1:c.1255T>C Y [TAC] > H [CAC] Coding Sequence Variant
probable phospholipid-transporting ATPase IIB isoform X20 XP_047293451.1:p.Tyr419His Y (Tyr) > H (His) Missense Variant
ATP9B transcript variant X21 XM_017025736.3:c.1255T>C Y [TAC] > H [CAC] Coding Sequence Variant
probable phospholipid-transporting ATPase IIB isoform X21 XP_016881225.1:p.Tyr419His Y (Tyr) > H (His) Missense Variant
ATP9B transcript variant X22 XM_047437496.1:c.1255T>C Y [TAC] > H [CAC] Coding Sequence Variant
probable phospholipid-transporting ATPase IIB isoform X22 XP_047293452.1:p.Tyr419His Y (Tyr) > H (His) Missense Variant
ATP9B transcript variant X23 XM_047437497.1:c.1252T>C Y [TAC] > H [CAC] Coding Sequence Variant
probable phospholipid-transporting ATPase IIB isoform X23 XP_047293453.1:p.Tyr418His Y (Tyr) > H (His) Missense Variant
ATP9B transcript variant X24 XM_017025737.2:c.1255T>C Y [TAC] > H [CAC] Coding Sequence Variant
probable phospholipid-transporting ATPase IIB isoform X24 XP_016881226.1:p.Tyr419His Y (Tyr) > H (His) Missense Variant
ATP9B transcript variant X25 XM_047437498.1:c.1252T>C Y [TAC] > H [CAC] Coding Sequence Variant
probable phospholipid-transporting ATPase IIB isoform X25 XP_047293454.1:p.Tyr418His Y (Tyr) > H (His) Missense Variant
ATP9B transcript variant X26 XM_047437499.1:c.1252T>C Y [TAC] > H [CAC] Coding Sequence Variant
probable phospholipid-transporting ATPase IIB isoform X26 XP_047293455.1:p.Tyr418His Y (Tyr) > H (His) Missense Variant
ATP9B transcript variant X27 XM_047437500.1:c.1252T>C Y [TAC] > H [CAC] Coding Sequence Variant
probable phospholipid-transporting ATPase IIB isoform X27 XP_047293456.1:p.Tyr418His Y (Tyr) > H (His) Missense Variant
ATP9B transcript variant X28 XM_011525971.3:c.652T>C Y [TAC] > H [CAC] Coding Sequence Variant
probable phospholipid-transporting ATPase IIB isoform X28 XP_011524273.2:p.Tyr218His Y (Tyr) > H (His) Missense Variant
ATP9B transcript variant X29 XM_011525972.3:c.505T>C Y [TAC] > H [CAC] Coding Sequence Variant
probable phospholipid-transporting ATPase IIB isoform X29 XP_011524274.1:p.Tyr169His Y (Tyr) > H (His) Missense Variant
ATP9B transcript variant X30 XM_011525973.3:c.382T>C Y [TAC] > H [CAC] Coding Sequence Variant
probable phospholipid-transporting ATPase IIB isoform X30 XP_011524275.1:p.Tyr128His Y (Tyr) > H (His) Missense Variant
ATP9B transcript variant X31 XM_011525974.3:c.334T>C Y [TAC] > H [CAC] Coding Sequence Variant
probable phospholipid-transporting ATPase IIB isoform X31 XP_011524276.1:p.Tyr112His Y (Tyr) > H (His) Missense Variant
ATP9B transcript variant X32 XM_047437501.1:c.70T>C Y [TAC] > H [CAC] Coding Sequence Variant
probable phospholipid-transporting ATPase IIB isoform X32 XP_047293457.1:p.Tyr24His Y (Tyr) > H (His) Missense Variant
ATP9B transcript variant X34 XM_017025742.2:c.1255T>C Y [TAC] > H [CAC] Coding Sequence Variant
probable phospholipid-transporting ATPase IIB isoform X34 XP_016881231.1:p.Tyr419His Y (Tyr) > H (His) Missense Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement T= C
GRCh38.p14 chr 18 NC_000018.10:g.79253525= NC_000018.10:g.79253525T>C
GRCh37.p13 chr 18 NC_000018.9:g.77013525= NC_000018.9:g.77013525T>C
ATP9B transcript variant 1 NM_198531.5:c.1252= NM_198531.5:c.1252T>C
ATP9B transcript variant 1 NM_198531.4:c.1252= NM_198531.4:c.1252T>C
ATP9B transcript NM_198531.3:c.1252= NM_198531.3:c.1252T>C
ATP9B transcript variant X28 XM_011525971.3:c.652= XM_011525971.3:c.652T>C
ATP9B transcript variant X21 XM_011525971.2:c.652= XM_011525971.2:c.652T>C
ATP9B transcript variant X18 XM_011525971.1:c.604= XM_011525971.1:c.604T>C
ATP9B transcript variant X21 XM_017025736.3:c.1255= XM_017025736.3:c.1255T>C
ATP9B transcript variant X16 XM_017025736.2:c.1255= XM_017025736.2:c.1255T>C
ATP9B transcript variant X16 XM_017025736.1:c.1255= XM_017025736.1:c.1255T>C
ATP9B transcript variant X19 XM_017025735.3:c.1255= XM_017025735.3:c.1255T>C
ATP9B transcript variant X14 XM_017025735.2:c.1255= XM_017025735.2:c.1255T>C
ATP9B transcript variant X14 XM_017025735.1:c.1255= XM_017025735.1:c.1255T>C
ATP9B transcript variant X10 XM_011525966.3:c.1135= XM_011525966.3:c.1135T>C
ATP9B transcript variant X9 XM_011525966.2:c.1135= XM_011525966.2:c.1135T>C
ATP9B transcript variant X12 XM_011525966.1:c.1135= XM_011525966.1:c.1135T>C
ATP9B transcript variant X1 XM_011525963.3:c.1255= XM_011525963.3:c.1255T>C
ATP9B transcript variant X1 XM_011525963.2:c.1255= XM_011525963.2:c.1255T>C
ATP9B transcript variant X8 XM_011525963.1:c.1255= XM_011525963.1:c.1255T>C
ATP9B transcript variant X6 XM_017025728.3:c.1255= XM_017025728.3:c.1255T>C
ATP9B transcript variant X5 XM_017025728.2:c.1255= XM_017025728.2:c.1255T>C
ATP9B transcript variant X5 XM_017025728.1:c.1255= XM_017025728.1:c.1255T>C
ATP9B transcript variant X2 XM_011525964.3:c.1252= XM_011525964.3:c.1252T>C
ATP9B transcript variant X2 XM_011525964.2:c.1252= XM_011525964.2:c.1252T>C
ATP9B transcript variant X9 XM_011525964.1:c.1252= XM_011525964.1:c.1252T>C
ATP9B transcript variant X29 XM_011525972.3:c.505= XM_011525972.3:c.505T>C
ATP9B transcript variant X22 XM_011525972.2:c.505= XM_011525972.2:c.505T>C
ATP9B transcript variant X19 XM_011525972.1:c.505= XM_011525972.1:c.505T>C
ATP9B transcript variant X31 XM_011525974.3:c.334= XM_011525974.3:c.334T>C
ATP9B transcript variant X24 XM_011525974.2:c.334= XM_011525974.2:c.334T>C
ATP9B transcript variant X21 XM_011525974.1:c.334= XM_011525974.1:c.334T>C
ATP9B transcript variant X30 XM_011525973.3:c.382= XM_011525973.3:c.382T>C
ATP9B transcript variant X23 XM_011525973.2:c.382= XM_011525973.2:c.382T>C
ATP9B transcript variant X20 XM_011525973.1:c.382= XM_011525973.1:c.382T>C
ATP9B transcript variant 3 NR_148360.2:n.1269= NR_148360.2:n.1269T>C
ATP9B transcript variant 3 NR_148360.1:n.1388= NR_148360.1:n.1388T>C
ATP9B transcript variant X3 XM_017025726.2:c.1255= XM_017025726.2:c.1255T>C
ATP9B transcript variant X3 XM_017025726.1:c.1255= XM_017025726.1:c.1255T>C
ATP9B transcript variant X4 XM_017025727.2:c.1255= XM_017025727.2:c.1255T>C
ATP9B transcript variant X4 XM_017025727.1:c.1255= XM_017025727.1:c.1255T>C
ATP9B transcript variant X8 XM_017025730.2:c.1255= XM_017025730.2:c.1255T>C
ATP9B transcript variant X7 XM_017025730.1:c.1255= XM_017025730.1:c.1255T>C
ATP9B transcript variant X11 XM_017025731.2:c.1255= XM_017025731.2:c.1255T>C
ATP9B transcript variant X10 XM_017025731.1:c.1255= XM_017025731.1:c.1255T>C
ATP9B transcript variant X13 XM_017025732.2:c.1255= XM_017025732.2:c.1255T>C
ATP9B transcript variant X11 XM_017025732.1:c.1255= XM_017025732.1:c.1255T>C
ATP9B transcript variant X16 XM_017025733.2:c.1255= XM_017025733.2:c.1255T>C
ATP9B transcript variant X12 XM_017025733.1:c.1255= XM_017025733.1:c.1255T>C
ATP9B transcript variant 2 NM_001306085.2:c.1252= NM_001306085.2:c.1252T>C
ATP9B transcript variant 2 NM_001306085.1:c.1252= NM_001306085.1:c.1252T>C
ATP9B transcript variant X24 XM_017025737.2:c.1255= XM_017025737.2:c.1255T>C
ATP9B transcript variant X19 XM_017025737.1:c.1255= XM_017025737.1:c.1255T>C
ATP9B transcript variant X18 XM_017025734.2:c.1255= XM_017025734.2:c.1255T>C
ATP9B transcript variant X13 XM_017025734.1:c.1255= XM_017025734.1:c.1255T>C
ATP9B transcript variant X7 XM_017025729.2:c.1255= XM_017025729.2:c.1255T>C
ATP9B transcript variant X6 XM_017025729.1:c.1255= XM_017025729.1:c.1255T>C
ATP9B transcript variant X34 XM_017025742.2:c.1255= XM_017025742.2:c.1255T>C
ATP9B transcript variant X31 XM_017025742.1:c.1255= XM_017025742.1:c.1255T>C
ATP9B transcript variant X26 XM_047437499.1:c.1252= XM_047437499.1:c.1252T>C
ATP9B transcript variant X9 XM_047437490.1:c.1135= XM_047437490.1:c.1135T>C
ATP9B transcript variant X5 XM_047437489.1:c.1252= XM_047437489.1:c.1252T>C
ATP9B transcript variant X12 XM_047437491.1:c.1135= XM_047437491.1:c.1135T>C
ATP9B transcript variant X15 XM_047437493.1:c.1135= XM_047437493.1:c.1135T>C
ATP9B transcript variant X14 XM_047437492.1:c.1252= XM_047437492.1:c.1252T>C
ATP9B transcript variant X17 XM_047437494.1:c.1252= XM_047437494.1:c.1252T>C
ATP9B transcript variant X25 XM_047437498.1:c.1252= XM_047437498.1:c.1252T>C
ATP9B transcript variant X27 XM_047437500.1:c.1252= XM_047437500.1:c.1252T>C
ATP9B transcript variant X23 XM_047437497.1:c.1252= XM_047437497.1:c.1252T>C
ATP9B transcript variant X20 XM_047437495.1:c.1255= XM_047437495.1:c.1255T>C
ATP9B transcript variant X22 XM_047437496.1:c.1255= XM_047437496.1:c.1255T>C
ATP9B transcript variant X32 XM_047437501.1:c.70= XM_047437501.1:c.70T>C
probable phospholipid-transporting ATPase IIB isoform 1 NP_940933.3:p.Tyr418= NP_940933.3:p.Tyr418His
probable phospholipid-transporting ATPase IIB isoform X28 XP_011524273.2:p.Tyr218= XP_011524273.2:p.Tyr218His
probable phospholipid-transporting ATPase IIB isoform X21 XP_016881225.1:p.Tyr419= XP_016881225.1:p.Tyr419His
probable phospholipid-transporting ATPase IIB isoform X19 XP_016881224.1:p.Tyr419= XP_016881224.1:p.Tyr419His
probable phospholipid-transporting ATPase IIB isoform X10 XP_011524268.1:p.Tyr379= XP_011524268.1:p.Tyr379His
probable phospholipid-transporting ATPase IIB isoform X1 XP_011524265.1:p.Tyr419= XP_011524265.1:p.Tyr419His
probable phospholipid-transporting ATPase IIB isoform X6 XP_016881217.1:p.Tyr419= XP_016881217.1:p.Tyr419His
probable phospholipid-transporting ATPase IIB isoform X2 XP_011524266.1:p.Tyr418= XP_011524266.1:p.Tyr418His
probable phospholipid-transporting ATPase IIB isoform X29 XP_011524274.1:p.Tyr169= XP_011524274.1:p.Tyr169His
probable phospholipid-transporting ATPase IIB isoform X31 XP_011524276.1:p.Tyr112= XP_011524276.1:p.Tyr112His
probable phospholipid-transporting ATPase IIB isoform X30 XP_011524275.1:p.Tyr128= XP_011524275.1:p.Tyr128His
probable phospholipid-transporting ATPase IIB isoform X3 XP_016881215.1:p.Tyr419= XP_016881215.1:p.Tyr419His
probable phospholipid-transporting ATPase IIB isoform X4 XP_016881216.1:p.Tyr419= XP_016881216.1:p.Tyr419His
probable phospholipid-transporting ATPase IIB isoform X8 XP_016881219.1:p.Tyr419= XP_016881219.1:p.Tyr419His
probable phospholipid-transporting ATPase IIB isoform X11 XP_016881220.1:p.Tyr419= XP_016881220.1:p.Tyr419His
probable phospholipid-transporting ATPase IIB isoform X13 XP_016881221.1:p.Tyr419= XP_016881221.1:p.Tyr419His
probable phospholipid-transporting ATPase IIB isoform X16 XP_016881222.1:p.Tyr419= XP_016881222.1:p.Tyr419His
probable phospholipid-transporting ATPase IIB isoform 2 NP_001293014.1:p.Tyr418= NP_001293014.1:p.Tyr418His
probable phospholipid-transporting ATPase IIB isoform X24 XP_016881226.1:p.Tyr419= XP_016881226.1:p.Tyr419His
probable phospholipid-transporting ATPase IIB isoform X18 XP_016881223.1:p.Tyr419= XP_016881223.1:p.Tyr419His
probable phospholipid-transporting ATPase IIB isoform X7 XP_016881218.1:p.Tyr419= XP_016881218.1:p.Tyr419His
probable phospholipid-transporting ATPase IIB isoform X34 XP_016881231.1:p.Tyr419= XP_016881231.1:p.Tyr419His
probable phospholipid-transporting ATPase IIB isoform X26 XP_047293455.1:p.Tyr418= XP_047293455.1:p.Tyr418His
probable phospholipid-transporting ATPase IIB isoform X9 XP_047293446.1:p.Tyr379= XP_047293446.1:p.Tyr379His
probable phospholipid-transporting ATPase IIB isoform X5 XP_047293445.1:p.Tyr418= XP_047293445.1:p.Tyr418His
probable phospholipid-transporting ATPase IIB isoform X12 XP_047293447.1:p.Tyr379= XP_047293447.1:p.Tyr379His
probable phospholipid-transporting ATPase IIB isoform X15 XP_047293449.1:p.Tyr379= XP_047293449.1:p.Tyr379His
probable phospholipid-transporting ATPase IIB isoform X14 XP_047293448.1:p.Tyr418= XP_047293448.1:p.Tyr418His
probable phospholipid-transporting ATPase IIB isoform X17 XP_047293450.1:p.Tyr418= XP_047293450.1:p.Tyr418His
probable phospholipid-transporting ATPase IIB isoform X25 XP_047293454.1:p.Tyr418= XP_047293454.1:p.Tyr418His
probable phospholipid-transporting ATPase IIB isoform X27 XP_047293456.1:p.Tyr418= XP_047293456.1:p.Tyr418His
probable phospholipid-transporting ATPase IIB isoform X23 XP_047293453.1:p.Tyr418= XP_047293453.1:p.Tyr418His
probable phospholipid-transporting ATPase IIB isoform X20 XP_047293451.1:p.Tyr419= XP_047293451.1:p.Tyr419His
probable phospholipid-transporting ATPase IIB isoform X22 XP_047293452.1:p.Tyr419= XP_047293452.1:p.Tyr419His
probable phospholipid-transporting ATPase IIB isoform X32 XP_047293457.1:p.Tyr24= XP_047293457.1:p.Tyr24His
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

1 SubSNP submission
No Submitter Submission ID Date (Build)
1 1000GENOMES ss489138416 May 04, 2012 (137)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss489138416 NC_000018.9:77013524:T:C NC_000018.10:79253524:T:C (self)
Help

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

No publications for rs199790096

Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post761+d5e8e07