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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

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

Reference SNP (rs) Report

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

rs1488968450

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr10:112434381-112434383 (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
delT
Variation Type
Indel Insertion and Deletion
Frequency
delT=0.000004 (1/264690, TOPMED)
delT=0.00000 (0/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ZDHHC6 : Frameshift 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 14050 TTT=1.00000 TT=0.00000 1.0 0.0 0.0 N/A
European Sub 9690 TTT=1.0000 TT=0.0000 1.0 0.0 0.0 N/A
African Sub 2898 TTT=1.0000 TT=0.0000 1.0 0.0 0.0 N/A
African Others Sub 114 TTT=1.000 TT=0.000 1.0 0.0 0.0 N/A
African American Sub 2784 TTT=1.0000 TT=0.0000 1.0 0.0 0.0 N/A
Asian Sub 112 TTT=1.000 TT=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 TTT=1.00 TT=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 TTT=1.00 TT=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 TTT=1.000 TT=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 TTT=1.000 TT=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 TTT=1.00 TT=0.00 1.0 0.0 0.0 N/A
Other Sub 496 TTT=1.000 TT=0.000 1.0 0.0 0.0 N/A


Help

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

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 TTT=0.999996 delT=0.000004
Allele Frequency Aggregator Total Global 14050 TTT=1.00000 delT=0.00000
Allele Frequency Aggregator European Sub 9690 TTT=1.0000 delT=0.0000
Allele Frequency Aggregator African Sub 2898 TTT=1.0000 delT=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 TTT=1.000 delT=0.000
Allele Frequency Aggregator Other Sub 496 TTT=1.000 delT=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 TTT=1.000 delT=0.000
Allele Frequency Aggregator Asian Sub 112 TTT=1.000 delT=0.000
Allele Frequency Aggregator South Asian Sub 98 TTT=1.00 delT=0.00
Help

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

Genomic Placements
Sequence name Change
GRCh38.p14 chr 10 NC_000010.11:g.112434383del
GRCh37.p13 chr 10 NC_000010.10:g.114194141del
Gene: ZDHHC6, zinc finger DHHC-type palmitoyltransferase 6 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ZDHHC6 transcript variant 1 NM_022494.3:c.819del K [AAA] > N [AA] Coding Sequence Variant
palmitoyltransferase ZDHHC6 isoform 1 NP_071939.1:p.Lys273fs K (Lys) > N (Asn) Frameshift Variant
ZDHHC6 transcript variant 9 NM_001363544.2:c.819del K [AAA] > N [AA] Coding Sequence Variant
palmitoyltransferase ZDHHC6 isoform 5 NP_001350473.1:p.Lys273fs K (Lys) > N (Asn) Frameshift Variant
ZDHHC6 transcript variant 4 NM_001351083.2:c.819del K [AAA] > N [AA] Coding Sequence Variant
palmitoyltransferase ZDHHC6 isoform 1 NP_001338012.1:p.Lys273fs K (Lys) > N (Asn) Frameshift Variant
ZDHHC6 transcript variant 2 NM_001303134.2:c.807del K [AAA] > N [AA] Coding Sequence Variant
palmitoyltransferase ZDHHC6 isoform 2 NP_001290063.1:p.Lys269fs K (Lys) > N (Asn) Frameshift Variant
ZDHHC6 transcript variant 5 NM_001351084.2:c.819del K [AAA] > N [AA] Coding Sequence Variant
palmitoyltransferase ZDHHC6 isoform 1 NP_001338013.1:p.Lys273fs K (Lys) > N (Asn) Frameshift Variant
ZDHHC6 transcript variant 7 NM_001351086.2:c.495del K [AAA] > N [AA] Coding Sequence Variant
palmitoyltransferase ZDHHC6 isoform 4 NP_001338015.1:p.Lys165fs K (Lys) > N (Asn) Frameshift Variant
ZDHHC6 transcript variant 3 NM_001351082.3:c.819del K [AAA] > N [AA] Coding Sequence Variant
palmitoyltransferase ZDHHC6 isoform 1 NP_001338011.1:p.Lys273fs K (Lys) > N (Asn) Frameshift Variant
ZDHHC6 transcript variant 6 NM_001351085.2:c.507del K [AAA] > N [AA] Coding Sequence Variant
palmitoyltransferase ZDHHC6 isoform 3 NP_001338014.1:p.Lys169fs K (Lys) > N (Asn) Frameshift Variant
ZDHHC6 transcript variant 8 NR_147045.2:n.1243del N/A Non Coding Transcript Variant
ZDHHC6 transcript variant X2 XM_017016562.3:c.807del K [AAA] > N [AA] Coding Sequence Variant
palmitoyltransferase ZDHHC6 isoform X1 XP_016872051.1:p.Lys269fs K (Lys) > N (Asn) Frameshift Variant
ZDHHC6 transcript variant X3 XM_017016563.3:c.807del K [AAA] > N [AA] Coding Sequence Variant
palmitoyltransferase ZDHHC6 isoform X1 XP_016872052.1:p.Lys269fs K (Lys) > N (Asn) Frameshift Variant
ZDHHC6 transcript variant X4 XM_011540091.3:c.819del K [AAA] > N [AA] Coding Sequence Variant
palmitoyltransferase ZDHHC6 isoform X2 XP_011538393.1:p.Lys273fs K (Lys) > N (Asn) Frameshift Variant
ZDHHC6 transcript variant X5 XM_017016564.3:c.819del K [AAA] > N [AA] Coding Sequence Variant
palmitoyltransferase ZDHHC6 isoform X2 XP_016872053.1:p.Lys273fs K (Lys) > N (Asn) Frameshift Variant
ZDHHC6 transcript variant X6 XM_047425653.1:c.819del K [AAA] > N [AA] Coding Sequence Variant
palmitoyltransferase ZDHHC6 isoform X2 XP_047281609.1:p.Lys273fs K (Lys) > N (Asn) Frameshift Variant
ZDHHC6 transcript variant X7 XM_047425654.1:c.819del K [AAA] > N [AA] Coding Sequence Variant
palmitoyltransferase ZDHHC6 isoform X2 XP_047281610.1:p.Lys273fs K (Lys) > N (Asn) Frameshift Variant
ZDHHC6 transcript variant X8 XM_017016566.3:c.807del K [AAA] > N [AA] Coding Sequence Variant
palmitoyltransferase ZDHHC6 isoform X3 XP_016872055.1:p.Lys269fs K (Lys) > N (Asn) Frameshift Variant
ZDHHC6 transcript variant X9 XM_006717949.5:c.657del K [AAA] > N [AA] Coding Sequence Variant
palmitoyltransferase ZDHHC6 isoform X4 XP_006718012.1:p.Lys219fs K (Lys) > N (Asn) Frameshift Variant
ZDHHC6 transcript variant X10 XM_047425655.1:c.657del K [AAA] > N [AA] Coding Sequence Variant
palmitoyltransferase ZDHHC6 isoform X4 XP_047281611.1:p.Lys219fs K (Lys) > N (Asn) Frameshift Variant
ZDHHC6 transcript variant X11 XM_047425656.1:c.657del K [AAA] > N [AA] Coding Sequence Variant
palmitoyltransferase ZDHHC6 isoform X4 XP_047281612.1:p.Lys219fs K (Lys) > N (Asn) Frameshift Variant
ZDHHC6 transcript variant X11 XM_017016567.3:c.645del K [AAA] > N [AA] Coding Sequence Variant
palmitoyltransferase ZDHHC6 isoform X5 XP_016872056.1:p.Lys215fs K (Lys) > N (Asn) Frameshift Variant
ZDHHC6 transcript variant X12 XM_047425657.1:c.657del K [AAA] > N [AA] Coding Sequence Variant
palmitoyltransferase ZDHHC6 isoform X6 XP_047281613.1:p.Lys219fs K (Lys) > N (Asn) Frameshift Variant
ZDHHC6 transcript variant X13 XM_047425658.1:c.819del K [AAA] > N [AA] Coding Sequence Variant
palmitoyltransferase ZDHHC6 isoform X7 XP_047281614.1:p.Lys273fs K (Lys) > N (Asn) Frameshift Variant
ZDHHC6 transcript variant X14 XM_017016568.3:c.507del K [AAA] > N [AA] Coding Sequence Variant
palmitoyltransferase ZDHHC6 isoform X8 XP_016872057.1:p.Lys169fs K (Lys) > N (Asn) Frameshift Variant
ZDHHC6 transcript variant X15 XM_011540093.3:c.507del K [AAA] > N [AA] Coding Sequence Variant
palmitoyltransferase ZDHHC6 isoform X8 XP_011538395.1:p.Lys169fs K (Lys) > N (Asn) Frameshift Variant
ZDHHC6 transcript variant X16 XM_047425659.1:c.507del K [AAA] > N [AA] Coding Sequence Variant
palmitoyltransferase ZDHHC6 isoform X8 XP_047281615.1:p.Lys169fs K (Lys) > N (Asn) Frameshift Variant
ZDHHC6 transcript variant X17 XM_047425660.1:c.495del K [AAA] > N [AA] Coding Sequence Variant
palmitoyltransferase ZDHHC6 isoform X9 XP_047281616.1:p.Lys165fs K (Lys) > N (Asn) Frameshift Variant
ZDHHC6 transcript variant X18 XM_011540095.4:c.345del K [AAA] > N [AA] Coding Sequence Variant
palmitoyltransferase ZDHHC6 isoform X10 XP_011538397.1:p.Lys115fs K (Lys) > N (Asn) Frameshift Variant
ZDHHC6 transcript variant X19 XM_047425661.1:c.345del K [AAA] > N [AA] Coding Sequence Variant
palmitoyltransferase ZDHHC6 isoform X10 XP_047281617.1:p.Lys115fs K (Lys) > N (Asn) Frameshift Variant
ZDHHC6 transcript variant X20 XM_017016569.2:c.138del K [AAA] > N [AA] Coding Sequence Variant
palmitoyltransferase ZDHHC6 isoform X11 XP_016872058.1:p.Lys46fs K (Lys) > N (Asn) Frameshift Variant
ZDHHC6 transcript variant X1 XR_007061983.1:n.1243del N/A Non Coding Transcript 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 TTT= delT
GRCh38.p14 chr 10 NC_000010.11:g.112434381_112434383= NC_000010.11:g.112434383del
GRCh37.p13 chr 10 NC_000010.10:g.114194139_114194141= NC_000010.10:g.114194141del
ZDHHC6 transcript variant X9 XM_006717949.5:c.655_657= XM_006717949.5:c.657del
ZDHHC6 transcript variant X7 XM_006717949.4:c.655_657= XM_006717949.4:c.657del
ZDHHC6 transcript variant X10 XM_006717949.3:c.655_657= XM_006717949.3:c.657del
ZDHHC6 transcript variant X4 XM_006717949.2:c.655_657= XM_006717949.2:c.657del
ZDHHC6 transcript variant X4 XM_006717949.1:c.655_657= XM_006717949.1:c.657del
ZDHHC6 transcript variant X18 XM_011540095.4:c.343_345= XM_011540095.4:c.345del
ZDHHC6 transcript variant X15 XM_011540095.3:c.343_345= XM_011540095.3:c.345del
ZDHHC6 transcript variant X21 XM_011540095.2:c.343_345= XM_011540095.2:c.345del
ZDHHC6 transcript variant X10 XM_011540095.1:c.343_345= XM_011540095.1:c.345del
ZDHHC6 transcript variant X5 XM_017016564.3:c.817_819= XM_017016564.3:c.819del
ZDHHC6 transcript variant X4 XM_017016564.2:c.817_819= XM_017016564.2:c.819del
ZDHHC6 transcript variant X7 XM_017016564.1:c.817_819= XM_017016564.1:c.819del
ZDHHC6 transcript variant X4 XM_011540091.3:c.817_819= XM_011540091.3:c.819del
ZDHHC6 transcript variant X3 XM_011540091.2:c.817_819= XM_011540091.2:c.819del
ZDHHC6 transcript variant X3 XM_011540091.1:c.817_819= XM_011540091.1:c.819del
ZDHHC6 transcript variant X8 XM_017016566.3:c.805_807= XM_017016566.3:c.807del
ZDHHC6 transcript variant X6 XM_017016566.2:c.805_807= XM_017016566.2:c.807del
ZDHHC6 transcript variant X9 XM_017016566.1:c.805_807= XM_017016566.1:c.807del
ZDHHC6 transcript variant 3 NM_001351082.3:c.817_819= NM_001351082.3:c.819del
ZDHHC6 transcript variant 3 NM_001351082.2:c.817_819= NM_001351082.2:c.819del
ZDHHC6 transcript variant 3 NM_001351082.1:c.817_819= NM_001351082.1:c.819del
ZDHHC6 transcript variant X2 XM_017016562.3:c.805_807= XM_017016562.3:c.807del
ZDHHC6 transcript variant X1 XM_017016562.2:c.805_807= XM_017016562.2:c.807del
ZDHHC6 transcript variant X4 XM_017016562.1:c.805_807= XM_017016562.1:c.807del
ZDHHC6 transcript variant X15 XM_011540093.3:c.505_507= XM_011540093.3:c.507del
ZDHHC6 transcript variant X12 XM_011540093.2:c.505_507= XM_011540093.2:c.507del
ZDHHC6 transcript variant X16 XM_011540093.1:c.505_507= XM_011540093.1:c.507del
ZDHHC6 transcript variant 1 NM_022494.3:c.817_819= NM_022494.3:c.819del
ZDHHC6 transcript variant 1 NM_022494.2:c.817_819= NM_022494.2:c.819del
ZDHHC6 transcript NM_022494.1:c.817_819= NM_022494.1:c.819del
ZDHHC6 transcript variant X3 XM_017016563.3:c.805_807= XM_017016563.3:c.807del
ZDHHC6 transcript variant X2 XM_017016563.2:c.805_807= XM_017016563.2:c.807del
ZDHHC6 transcript variant X5 XM_017016563.1:c.805_807= XM_017016563.1:c.807del
ZDHHC6 transcript variant X14 XM_017016568.3:c.505_507= XM_017016568.3:c.507del
ZDHHC6 transcript variant X13 XM_017016568.2:c.505_507= XM_017016568.2:c.507del
ZDHHC6 transcript variant X17 XM_017016568.1:c.505_507= XM_017016568.1:c.507del
ZDHHC6 transcript variant X11 XM_017016567.3:c.643_645= XM_017016567.3:c.645del
ZDHHC6 transcript variant X8 XM_017016567.2:c.643_645= XM_017016567.2:c.645del
ZDHHC6 transcript variant X11 XM_017016567.1:c.643_645= XM_017016567.1:c.645del
ZDHHC6 transcript variant 9 NM_001363544.2:c.817_819= NM_001363544.2:c.819del
ZDHHC6 transcript variant 9 NM_001363544.1:c.817_819= NM_001363544.1:c.819del
ZDHHC6 transcript variant 5 NM_001351084.2:c.817_819= NM_001351084.2:c.819del
ZDHHC6 transcript variant 5 NM_001351084.1:c.817_819= NM_001351084.1:c.819del
ZDHHC6 transcript variant 8 NR_147045.2:n.1241_1243= NR_147045.2:n.1243del
ZDHHC6 transcript variant 8 NR_147045.1:n.1286_1288= NR_147045.1:n.1288del
ZDHHC6 transcript variant 2 NM_001303134.2:c.805_807= NM_001303134.2:c.807del
ZDHHC6 transcript variant 2 NM_001303134.1:c.805_807= NM_001303134.1:c.807del
ZDHHC6 transcript variant 4 NM_001351083.2:c.817_819= NM_001351083.2:c.819del
ZDHHC6 transcript variant 4 NM_001351083.1:c.817_819= NM_001351083.1:c.819del
ZDHHC6 transcript variant 6 NM_001351085.2:c.505_507= NM_001351085.2:c.507del
ZDHHC6 transcript variant 6 NM_001351085.1:c.505_507= NM_001351085.1:c.507del
ZDHHC6 transcript variant 7 NM_001351086.2:c.493_495= NM_001351086.2:c.495del
ZDHHC6 transcript variant 7 NM_001351086.1:c.493_495= NM_001351086.1:c.495del
ZDHHC6 transcript variant X20 XM_017016569.2:c.136_138= XM_017016569.2:c.138del
ZDHHC6 transcript variant X16 XM_017016569.1:c.136_138= XM_017016569.1:c.138del
ZDHHC6 transcript variant X12 XM_047425657.1:c.655_657= XM_047425657.1:c.657del
ZDHHC6 transcript variant X1 XR_007061983.1:n.1241_1243= XR_007061983.1:n.1243del
ZDHHC6 transcript variant X6 XM_047425653.1:c.817_819= XM_047425653.1:c.819del
ZDHHC6 transcript variant X17 XM_047425660.1:c.493_495= XM_047425660.1:c.495del
ZDHHC6 transcript variant X16 XM_047425659.1:c.505_507= XM_047425659.1:c.507del
ZDHHC6 transcript variant X11 XM_047425656.1:c.655_657= XM_047425656.1:c.657del
ZDHHC6 transcript variant 10 NM_001411066.1:c.655_657= NM_001411066.1:c.657del
ZDHHC6 transcript variant X7 XM_047425654.1:c.817_819= XM_047425654.1:c.819del
ZDHHC6 transcript variant X10 XM_047425655.1:c.655_657= XM_047425655.1:c.657del
ZDHHC6 transcript variant X19 XM_047425661.1:c.343_345= XM_047425661.1:c.345del
ZDHHC6 transcript variant X13 XM_047425658.1:c.817_819= XM_047425658.1:c.819del
palmitoyltransferase ZDHHC6 isoform X4 XP_006718012.1:p.Lys219= XP_006718012.1:p.Lys219fs
palmitoyltransferase ZDHHC6 isoform X10 XP_011538397.1:p.Lys115= XP_011538397.1:p.Lys115fs
palmitoyltransferase ZDHHC6 isoform X2 XP_016872053.1:p.Lys273= XP_016872053.1:p.Lys273fs
palmitoyltransferase ZDHHC6 isoform X2 XP_011538393.1:p.Lys273= XP_011538393.1:p.Lys273fs
palmitoyltransferase ZDHHC6 isoform X3 XP_016872055.1:p.Lys269= XP_016872055.1:p.Lys269fs
palmitoyltransferase ZDHHC6 isoform 1 NP_001338011.1:p.Lys273= NP_001338011.1:p.Lys273fs
palmitoyltransferase ZDHHC6 isoform X1 XP_016872051.1:p.Lys269= XP_016872051.1:p.Lys269fs
palmitoyltransferase ZDHHC6 isoform X8 XP_011538395.1:p.Lys169= XP_011538395.1:p.Lys169fs
palmitoyltransferase ZDHHC6 isoform 1 NP_071939.1:p.Lys273= NP_071939.1:p.Lys273fs
palmitoyltransferase ZDHHC6 isoform X1 XP_016872052.1:p.Lys269= XP_016872052.1:p.Lys269fs
palmitoyltransferase ZDHHC6 isoform X8 XP_016872057.1:p.Lys169= XP_016872057.1:p.Lys169fs
palmitoyltransferase ZDHHC6 isoform X5 XP_016872056.1:p.Lys215= XP_016872056.1:p.Lys215fs
palmitoyltransferase ZDHHC6 isoform 5 NP_001350473.1:p.Lys273= NP_001350473.1:p.Lys273fs
palmitoyltransferase ZDHHC6 isoform 1 NP_001338013.1:p.Lys273= NP_001338013.1:p.Lys273fs
palmitoyltransferase ZDHHC6 isoform 2 NP_001290063.1:p.Lys269= NP_001290063.1:p.Lys269fs
palmitoyltransferase ZDHHC6 isoform 1 NP_001338012.1:p.Lys273= NP_001338012.1:p.Lys273fs
palmitoyltransferase ZDHHC6 isoform 3 NP_001338014.1:p.Lys169= NP_001338014.1:p.Lys169fs
palmitoyltransferase ZDHHC6 isoform 4 NP_001338015.1:p.Lys165= NP_001338015.1:p.Lys165fs
palmitoyltransferase ZDHHC6 isoform X11 XP_016872058.1:p.Lys46= XP_016872058.1:p.Lys46fs
palmitoyltransferase ZDHHC6 isoform X6 XP_047281613.1:p.Lys219= XP_047281613.1:p.Lys219fs
palmitoyltransferase ZDHHC6 isoform X2 XP_047281609.1:p.Lys273= XP_047281609.1:p.Lys273fs
palmitoyltransferase ZDHHC6 isoform X9 XP_047281616.1:p.Lys165= XP_047281616.1:p.Lys165fs
palmitoyltransferase ZDHHC6 isoform X8 XP_047281615.1:p.Lys169= XP_047281615.1:p.Lys169fs
palmitoyltransferase ZDHHC6 isoform X4 XP_047281612.1:p.Lys219= XP_047281612.1:p.Lys219fs
palmitoyltransferase ZDHHC6 isoform X2 XP_047281610.1:p.Lys273= XP_047281610.1:p.Lys273fs
palmitoyltransferase ZDHHC6 isoform X4 XP_047281611.1:p.Lys219= XP_047281611.1:p.Lys219fs
palmitoyltransferase ZDHHC6 isoform X10 XP_047281617.1:p.Lys115= XP_047281617.1:p.Lys115fs
palmitoyltransferase ZDHHC6 isoform X7 XP_047281614.1:p.Lys273= XP_047281614.1:p.Lys273fs
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, 2 Frequency submissions
No Submitter Submission ID Date (Build)
1 TOPMED ss4866991969 Apr 26, 2021 (155)
2 TopMed NC_000010.11 - 112434381 Apr 26, 2021 (155)
3 ALFA NC_000010.11 - 112434381 Apr 26, 2021 (155)
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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
82537624, ss4866991969 NC_000010.11:112434380:T: NC_000010.11:112434380:TTT:TT (self)
3891741530 NC_000010.11:112434380:TTT:TT NC_000010.11:112434380:TTT:TT (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1488968450

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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.

Software version is: 2.0.1.post820+afb47a3d