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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs1486244565

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr18:62147087 (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
C=0.000007 (1/140252, GnomAD)
C=0.00000 (0/10680, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PIGN : Missense 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 10680 T=1.00000 C=0.00000 1.0 0.0 0.0 N/A
European Sub 6962 T=1.0000 C=0.0000 1.0 0.0 0.0 N/A
African Sub 2294 T=1.0000 C=0.0000 1.0 0.0 0.0 N/A
African Others Sub 84 T=1.00 C=0.00 1.0 0.0 0.0 N/A
African American Sub 2210 T=1.0000 C=0.0000 1.0 0.0 0.0 N/A
Asian Sub 108 T=1.000 C=0.000 1.0 0.0 0.0 N/A
East Asian Sub 84 T=1.00 C=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 T=1.00 C=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 T=1.000 C=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 T=1.000 C=0.000 1.0 0.0 0.0 N/A
South Asian Sub 94 T=1.00 C=0.00 1.0 0.0 0.0 N/A
Other Sub 466 T=1.000 C=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
gnomAD - Genomes Global Study-wide 140252 T=0.999993 C=0.000007
gnomAD - Genomes European Sub 75932 T=1.00000 C=0.00000
gnomAD - Genomes African Sub 42052 T=1.00000 C=0.00000
gnomAD - Genomes American Sub 13658 T=1.00000 C=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3322 T=1.0000 C=0.0000
gnomAD - Genomes East Asian Sub 3134 T=0.9997 C=0.0003
gnomAD - Genomes Other Sub 2154 T=1.0000 C=0.0000
Allele Frequency Aggregator Total Global 10680 T=1.00000 C=0.00000
Allele Frequency Aggregator European Sub 6962 T=1.0000 C=0.0000
Allele Frequency Aggregator African Sub 2294 T=1.0000 C=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 T=1.000 C=0.000
Allele Frequency Aggregator Other Sub 466 T=1.000 C=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 T=1.000 C=0.000
Allele Frequency Aggregator Asian Sub 108 T=1.000 C=0.000
Allele Frequency Aggregator South Asian Sub 94 T=1.00 C=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 18 NC_000018.10:g.62147087T>C
GRCh37.p13 chr 18 NC_000018.9:g.59814320T>C
PIGN RefSeqGene NG_033144.1:g.44970A>G
Gene: PIGN, phosphatidylinositol glycan anchor biosynthesis class N (minus strand)
Molecule type Change Amino acid[Codon] SO Term
PIGN transcript variant 1 NM_176787.5:c.689A>G N [AAT] > S [AGT] Coding Sequence Variant
GPI ethanolamine phosphate transferase 1 NP_789744.1:p.Asn230Ser N (Asn) > S (Ser) Missense Variant
PIGN transcript variant 2 NM_012327.6:c.689A>G N [AAT] > S [AGT] Coding Sequence Variant
GPI ethanolamine phosphate transferase 1 NP_036459.1:p.Asn230Ser N (Asn) > S (Ser) Missense Variant
PIGN transcript variant X1 XM_011525889.2:c.689A>G N [AAT] > S [AGT] Coding Sequence Variant
GPI ethanolamine phosphate transferase 1 isoform X1 XP_011524191.1:p.Asn230Ser N (Asn) > S (Ser) Missense Variant
PIGN transcript variant X2 XM_011525892.2:c.689A>G N [AAT] > S [AGT] Coding Sequence Variant
GPI ethanolamine phosphate transferase 1 isoform X1 XP_011524194.1:p.Asn230Ser N (Asn) > S (Ser) Missense Variant
PIGN transcript variant X3 XM_011525895.2:c.689A>G N [AAT] > S [AGT] Coding Sequence Variant
GPI ethanolamine phosphate transferase 1 isoform X1 XP_011524197.1:p.Asn230Ser N (Asn) > S (Ser) Missense Variant
PIGN transcript variant X4 XM_011525890.2:c.689A>G N [AAT] > S [AGT] Coding Sequence Variant
GPI ethanolamine phosphate transferase 1 isoform X1 XP_011524192.1:p.Asn230Ser N (Asn) > S (Ser) Missense Variant
PIGN transcript variant X5 XM_011525891.2:c.689A>G N [AAT] > S [AGT] Coding Sequence Variant
GPI ethanolamine phosphate transferase 1 isoform X1 XP_011524193.1:p.Asn230Ser N (Asn) > S (Ser) Missense Variant
PIGN transcript variant X6 XM_011525893.2:c.689A>G N [AAT] > S [AGT] Coding Sequence Variant
GPI ethanolamine phosphate transferase 1 isoform X1 XP_011524195.1:p.Asn230Ser N (Asn) > S (Ser) Missense Variant
PIGN transcript variant X7 XM_011525894.2:c.689A>G N [AAT] > S [AGT] Coding Sequence Variant
GPI ethanolamine phosphate transferase 1 isoform X1 XP_011524196.1:p.Asn230Ser N (Asn) > S (Ser) Missense Variant
PIGN transcript variant X8 XM_011525896.2:c.689A>G N [AAT] > S [AGT] Coding Sequence Variant
GPI ethanolamine phosphate transferase 1 isoform X2 XP_011524198.1:p.Asn230Ser N (Asn) > S (Ser) Missense Variant
PIGN transcript variant X9 XM_047437430.1:c.689A>G N [AAT] > S [AGT] Coding Sequence Variant
GPI ethanolamine phosphate transferase 1 isoform X3 XP_047293386.1:p.Asn230Ser N (Asn) > S (Ser) Missense Variant
PIGN transcript variant X10 XM_047437431.1:c.689A>G N [AAT] > S [AGT] Coding Sequence Variant
GPI ethanolamine phosphate transferase 1 isoform X4 XP_047293387.1:p.Asn230Ser N (Asn) > S (Ser) Missense Variant
PIGN transcript variant X11 XM_047437432.1:c.689A>G N [AAT] > S [AGT] Coding Sequence Variant
GPI ethanolamine phosphate transferase 1 isoform X2 XP_047293388.1:p.Asn230Ser N (Asn) > S (Ser) Missense Variant
PIGN transcript variant X12 XM_047437433.1:c.689A>G N [AAT] > S [AGT] Coding Sequence Variant
GPI ethanolamine phosphate transferase 1 isoform X2 XP_047293389.1:p.Asn230Ser N (Asn) > S (Ser) Missense Variant
PIGN transcript variant X13 XM_047437434.1:c.689A>G N [AAT] > S [AGT] Coding Sequence Variant
GPI ethanolamine phosphate transferase 1 isoform X2 XP_047293390.1:p.Asn230Ser N (Asn) > S (Ser) Missense Variant
PIGN transcript variant X14 XM_011525898.2:c.689A>G N [AAT] > S [AGT] Coding Sequence Variant
GPI ethanolamine phosphate transferase 1 isoform X5 XP_011524200.1:p.Asn230Ser N (Asn) > S (Ser) Missense Variant
PIGN transcript variant X15 XM_047437435.1:c.689A>G N [AAT] > S [AGT] Coding Sequence Variant
GPI ethanolamine phosphate transferase 1 isoform X6 XP_047293391.1:p.Asn230Ser N (Asn) > S (Ser) Missense Variant
PIGN transcript variant X16 XM_047437436.1:c.689A>G N [AAT] > S [AGT] Coding Sequence Variant
GPI ethanolamine phosphate transferase 1 isoform X6 XP_047293392.1:p.Asn230Ser N (Asn) > S (Ser) Missense Variant
PIGN transcript variant X17 XM_047437437.1:c.689A>G N [AAT] > S [AGT] Coding Sequence Variant
GPI ethanolamine phosphate transferase 1 isoform X6 XP_047293393.1:p.Asn230Ser N (Asn) > S (Ser) Missense Variant
PIGN transcript variant X18 XM_047437438.1:c.689A>G N [AAT] > S [AGT] Coding Sequence Variant
GPI ethanolamine phosphate transferase 1 isoform X6 XP_047293394.1:p.Asn230Ser N (Asn) > S (Ser) Missense Variant
PIGN transcript variant X19 XM_047437439.1:c.689A>G N [AAT] > S [AGT] Coding Sequence Variant
GPI ethanolamine phosphate transferase 1 isoform X6 XP_047293395.1:p.Asn230Ser N (Asn) > S (Ser) Missense Variant
PIGN transcript variant X20 XM_047437440.1:c.689A>G N [AAT] > S [AGT] Coding Sequence Variant
GPI ethanolamine phosphate transferase 1 isoform X6 XP_047293396.1:p.Asn230Ser N (Asn) > S (Ser) Missense Variant
PIGN transcript variant X21 XM_047437441.1:c.689A>G N [AAT] > S [AGT] Coding Sequence Variant
GPI ethanolamine phosphate transferase 1 isoform X3 XP_047293397.1:p.Asn230Ser N (Asn) > S (Ser) Missense Variant
PIGN transcript variant X22 XM_047437442.1:c.689A>G N [AAT] > S [AGT] Coding Sequence Variant
GPI ethanolamine phosphate transferase 1 isoform X3 XP_047293398.1:p.Asn230Ser N (Asn) > S (Ser) Missense Variant
PIGN transcript variant X23 XM_047437443.1:c.689A>G N [AAT] > S [AGT] Coding Sequence Variant
GPI ethanolamine phosphate transferase 1 isoform X7 XP_047293399.1:p.Asn230Ser N (Asn) > S (Ser) Missense Variant
PIGN transcript variant X24 XM_047437444.1:c.689A>G N [AAT] > S [AGT] Coding Sequence Variant
GPI ethanolamine phosphate transferase 1 isoform X7 XP_047293400.1:p.Asn230Ser N (Asn) > S (Ser) Missense Variant
PIGN transcript variant X25 XM_047437445.1:c.689A>G N [AAT] > S [AGT] Coding Sequence Variant
GPI ethanolamine phosphate transferase 1 isoform X7 XP_047293401.1:p.Asn230Ser N (Asn) > S (Ser) Missense Variant
PIGN transcript variant X26 XM_047437446.1:c.689A>G N [AAT] > S [AGT] Coding Sequence Variant
GPI ethanolamine phosphate transferase 1 isoform X7 XP_047293402.1:p.Asn230Ser N (Asn) > S (Ser) Missense Variant
PIGN transcript variant X27 XM_047437447.1:c.689A>G N [AAT] > S [AGT] Coding Sequence Variant
GPI ethanolamine phosphate transferase 1 isoform X7 XP_047293403.1:p.Asn230Ser N (Asn) > S (Ser) Missense Variant
PIGN transcript variant X28 XM_047437448.1:c.689A>G N [AAT] > S [AGT] Coding Sequence Variant
GPI ethanolamine phosphate transferase 1 isoform X7 XP_047293404.1:p.Asn230Ser N (Asn) > S (Ser) Missense Variant
PIGN transcript variant X29 XM_047437449.1:c.689A>G N [AAT] > S [AGT] Coding Sequence Variant
GPI ethanolamine phosphate transferase 1 isoform X7 XP_047293405.1:p.Asn230Ser N (Asn) > S (Ser) Missense Variant
PIGN transcript variant X30 XM_017025685.2:c.689A>G N [AAT] > S [AGT] Coding Sequence Variant
GPI ethanolamine phosphate transferase 1 isoform X8 XP_016881174.1:p.Asn230Ser N (Asn) > S (Ser) Missense Variant
PIGN transcript variant X31 XM_047437450.1:c.689A>G N [AAT] > S [AGT] Coding Sequence Variant
GPI ethanolamine phosphate transferase 1 isoform X9 XP_047293406.1:p.Asn230Ser N (Asn) > S (Ser) Missense Variant
PIGN transcript variant X32 XM_047437451.1:c.689A>G N [AAT] > S [AGT] Coding Sequence Variant
GPI ethanolamine phosphate transferase 1 isoform X8 XP_047293407.1:p.Asn230Ser N (Asn) > S (Ser) Missense Variant
PIGN transcript variant X33 XM_047437452.1:c.689A>G N [AAT] > S [AGT] Coding Sequence Variant
GPI ethanolamine phosphate transferase 1 isoform X8 XP_047293408.1:p.Asn230Ser N (Asn) > S (Ser) Missense Variant
PIGN transcript variant X34 XM_047437453.1:c.689A>G N [AAT] > S [AGT] Coding Sequence Variant
GPI ethanolamine phosphate transferase 1 isoform X8 XP_047293409.1:p.Asn230Ser N (Asn) > S (Ser) Missense Variant
PIGN transcript variant X35 XM_047437454.1:c.689A>G N [AAT] > S [AGT] Coding Sequence Variant
GPI ethanolamine phosphate transferase 1 isoform X10 XP_047293410.1:p.Asn230Ser N (Asn) > S (Ser) Missense Variant
PIGN transcript variant X36 XM_047437455.1:c.689A>G N [AAT] > S [AGT] Coding Sequence Variant
GPI ethanolamine phosphate transferase 1 isoform X9 XP_047293411.1:p.Asn230Ser N (Asn) > S (Ser) Missense Variant
PIGN transcript variant X37 XM_047437456.1:c.689A>G N [AAT] > S [AGT] Coding Sequence Variant
GPI ethanolamine phosphate transferase 1 isoform X10 XP_047293412.1:p.Asn230Ser N (Asn) > S (Ser) Missense Variant
PIGN transcript variant X38 XM_047437457.1:c.689A>G N [AAT] > S [AGT] Coding Sequence Variant
GPI ethanolamine phosphate transferase 1 isoform X10 XP_047293413.1:p.Asn230Ser N (Asn) > S (Ser) Missense Variant
PIGN transcript variant X39 XM_047437458.1:c.689A>G N [AAT] > S [AGT] Coding Sequence Variant
GPI ethanolamine phosphate transferase 1 isoform X10 XP_047293414.1:p.Asn230Ser N (Asn) > S (Ser) Missense Variant
PIGN transcript variant X40 XM_047437459.1:c.689A>G N [AAT] > S [AGT] Coding Sequence Variant
GPI ethanolamine phosphate transferase 1 isoform X10 XP_047293415.1:p.Asn230Ser N (Asn) > S (Ser) Missense Variant
PIGN transcript variant X41 XM_047437460.1:c.689A>G N [AAT] > S [AGT] Coding Sequence Variant
GPI ethanolamine phosphate transferase 1 isoform X11 XP_047293416.1:p.Asn230Ser N (Asn) > S (Ser) Missense Variant
PIGN transcript variant X42 XM_047437461.1:c.689A>G N [AAT] > S [AGT] Coding Sequence Variant
GPI ethanolamine phosphate transferase 1 isoform X12 XP_047293417.1:p.Asn230Ser N (Asn) > S (Ser) Missense Variant
PIGN transcript variant X43 XM_047437462.1:c.689A>G N [AAT] > S [AGT] Coding Sequence Variant
GPI ethanolamine phosphate transferase 1 isoform X11 XP_047293418.1:p.Asn230Ser N (Asn) > S (Ser) Missense Variant
PIGN transcript variant X44 XM_047437463.1:c.689A>G N [AAT] > S [AGT] Coding Sequence Variant
GPI ethanolamine phosphate transferase 1 isoform X11 XP_047293419.1:p.Asn230Ser N (Asn) > S (Ser) Missense Variant
PIGN transcript variant X45 XM_047437464.1:c.689A>G N [AAT] > S [AGT] Coding Sequence Variant
GPI ethanolamine phosphate transferase 1 isoform X11 XP_047293420.1:p.Asn230Ser N (Asn) > S (Ser) 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.62147087= NC_000018.10:g.62147087T>C
GRCh37.p13 chr 18 NC_000018.9:g.59814320= NC_000018.9:g.59814320T>C
PIGN RefSeqGene NG_033144.1:g.44970= NG_033144.1:g.44970A>G
PIGN transcript variant 2 NM_012327.6:c.689= NM_012327.6:c.689A>G
PIGN transcript variant 2 NM_012327.5:c.689= NM_012327.5:c.689A>G
PIGN transcript variant 1 NM_176787.5:c.689= NM_176787.5:c.689A>G
PIGN transcript variant 1 NM_176787.4:c.689= NM_176787.4:c.689A>G
PIGN transcript variant X4 XM_011525890.2:c.689= XM_011525890.2:c.689A>G
PIGN transcript variant X2 XM_011525890.1:c.689= XM_011525890.1:c.689A>G
PIGN transcript variant X1 XM_011525889.2:c.689= XM_011525889.2:c.689A>G
PIGN transcript variant X1 XM_011525889.1:c.689= XM_011525889.1:c.689A>G
PIGN transcript variant X8 XM_011525896.2:c.689= XM_011525896.2:c.689A>G
PIGN transcript variant X8 XM_011525896.1:c.689= XM_011525896.1:c.689A>G
PIGN transcript variant X2 XM_011525892.2:c.689= XM_011525892.2:c.689A>G
PIGN transcript variant X4 XM_011525892.1:c.689= XM_011525892.1:c.689A>G
PIGN transcript variant X6 XM_011525893.2:c.689= XM_011525893.2:c.689A>G
PIGN transcript variant X5 XM_011525893.1:c.689= XM_011525893.1:c.689A>G
PIGN transcript variant X5 XM_011525891.2:c.689= XM_011525891.2:c.689A>G
PIGN transcript variant X3 XM_011525891.1:c.689= XM_011525891.1:c.689A>G
PIGN transcript variant X3 XM_011525895.2:c.689= XM_011525895.2:c.689A>G
PIGN transcript variant X6 XM_011525895.1:c.689= XM_011525895.1:c.689A>G
PIGN transcript variant X7 XM_011525894.2:c.689= XM_011525894.2:c.689A>G
PIGN transcript variant X7 XM_011525894.1:c.689= XM_011525894.1:c.689A>G
PIGN transcript variant X30 XM_017025685.2:c.689= XM_017025685.2:c.689A>G
PIGN transcript variant X10 XM_017025685.1:c.689= XM_017025685.1:c.689A>G
PIGN transcript variant X14 XM_011525898.2:c.689= XM_011525898.2:c.689A>G
PIGN transcript variant X9 XM_011525898.1:c.689= XM_011525898.1:c.689A>G
PIGN transcript variant X17 XM_047437437.1:c.689= XM_047437437.1:c.689A>G
PIGN transcript variant X18 XM_047437438.1:c.689= XM_047437438.1:c.689A>G
PIGN transcript variant X11 XM_047437432.1:c.689= XM_047437432.1:c.689A>G
PIGN transcript variant X13 XM_047437434.1:c.689= XM_047437434.1:c.689A>G
PIGN transcript variant X16 XM_047437436.1:c.689= XM_047437436.1:c.689A>G
PIGN transcript variant X12 XM_047437433.1:c.689= XM_047437433.1:c.689A>G
PIGN transcript variant X20 XM_047437440.1:c.689= XM_047437440.1:c.689A>G
PIGN transcript variant X15 XM_047437435.1:c.689= XM_047437435.1:c.689A>G
PIGN transcript variant X38 XM_047437457.1:c.689= XM_047437457.1:c.689A>G
PIGN transcript variant X19 XM_047437439.1:c.689= XM_047437439.1:c.689A>G
PIGN transcript variant X26 XM_047437446.1:c.689= XM_047437446.1:c.689A>G
PIGN transcript variant X31 XM_047437450.1:c.689= XM_047437450.1:c.689A>G
PIGN transcript variant X34 XM_047437453.1:c.689= XM_047437453.1:c.689A>G
PIGN transcript variant X35 XM_047437454.1:c.689= XM_047437454.1:c.689A>G
PIGN transcript variant X32 XM_047437451.1:c.689= XM_047437451.1:c.689A>G
PIGN transcript variant X36 XM_047437455.1:c.689= XM_047437455.1:c.689A>G
PIGN transcript variant X21 XM_047437441.1:c.689= XM_047437441.1:c.689A>G
PIGN transcript variant X37 XM_047437456.1:c.689= XM_047437456.1:c.689A>G
PIGN transcript variant X23 XM_047437443.1:c.689= XM_047437443.1:c.689A>G
PIGN transcript variant X33 XM_047437452.1:c.689= XM_047437452.1:c.689A>G
PIGN transcript variant X39 XM_047437458.1:c.689= XM_047437458.1:c.689A>G
PIGN transcript variant X25 XM_047437445.1:c.689= XM_047437445.1:c.689A>G
PIGN transcript variant X40 XM_047437459.1:c.689= XM_047437459.1:c.689A>G
PIGN transcript variant X28 XM_047437448.1:c.689= XM_047437448.1:c.689A>G
PIGN transcript variant X27 XM_047437447.1:c.689= XM_047437447.1:c.689A>G
PIGN transcript variant X24 XM_047437444.1:c.689= XM_047437444.1:c.689A>G
PIGN transcript variant X29 XM_047437449.1:c.689= XM_047437449.1:c.689A>G
PIGN transcript variant X41 XM_047437460.1:c.689= XM_047437460.1:c.689A>G
PIGN transcript variant X44 XM_047437463.1:c.689= XM_047437463.1:c.689A>G
PIGN transcript variant X43 XM_047437462.1:c.689= XM_047437462.1:c.689A>G
PIGN transcript variant X45 XM_047437464.1:c.689= XM_047437464.1:c.689A>G
PIGN transcript variant X9 XM_047437430.1:c.689= XM_047437430.1:c.689A>G
PIGN transcript variant X22 XM_047437442.1:c.689= XM_047437442.1:c.689A>G
PIGN transcript variant X10 XM_047437431.1:c.689= XM_047437431.1:c.689A>G
PIGN transcript variant X42 XM_047437461.1:c.689= XM_047437461.1:c.689A>G
GPI ethanolamine phosphate transferase 1 NP_036459.1:p.Asn230= NP_036459.1:p.Asn230Ser
GPI ethanolamine phosphate transferase 1 NP_789744.1:p.Asn230= NP_789744.1:p.Asn230Ser
GPI ethanolamine phosphate transferase 1 isoform X1 XP_011524192.1:p.Asn230= XP_011524192.1:p.Asn230Ser
GPI ethanolamine phosphate transferase 1 isoform X1 XP_011524191.1:p.Asn230= XP_011524191.1:p.Asn230Ser
GPI ethanolamine phosphate transferase 1 isoform X2 XP_011524198.1:p.Asn230= XP_011524198.1:p.Asn230Ser
GPI ethanolamine phosphate transferase 1 isoform X1 XP_011524194.1:p.Asn230= XP_011524194.1:p.Asn230Ser
GPI ethanolamine phosphate transferase 1 isoform X1 XP_011524195.1:p.Asn230= XP_011524195.1:p.Asn230Ser
GPI ethanolamine phosphate transferase 1 isoform X1 XP_011524193.1:p.Asn230= XP_011524193.1:p.Asn230Ser
GPI ethanolamine phosphate transferase 1 isoform X1 XP_011524197.1:p.Asn230= XP_011524197.1:p.Asn230Ser
GPI ethanolamine phosphate transferase 1 isoform X1 XP_011524196.1:p.Asn230= XP_011524196.1:p.Asn230Ser
GPI ethanolamine phosphate transferase 1 isoform X8 XP_016881174.1:p.Asn230= XP_016881174.1:p.Asn230Ser
GPI ethanolamine phosphate transferase 1 isoform X5 XP_011524200.1:p.Asn230= XP_011524200.1:p.Asn230Ser
GPI ethanolamine phosphate transferase 1 isoform X6 XP_047293393.1:p.Asn230= XP_047293393.1:p.Asn230Ser
GPI ethanolamine phosphate transferase 1 isoform X6 XP_047293394.1:p.Asn230= XP_047293394.1:p.Asn230Ser
GPI ethanolamine phosphate transferase 1 isoform X2 XP_047293388.1:p.Asn230= XP_047293388.1:p.Asn230Ser
GPI ethanolamine phosphate transferase 1 isoform X2 XP_047293390.1:p.Asn230= XP_047293390.1:p.Asn230Ser
GPI ethanolamine phosphate transferase 1 isoform X6 XP_047293392.1:p.Asn230= XP_047293392.1:p.Asn230Ser
GPI ethanolamine phosphate transferase 1 isoform X2 XP_047293389.1:p.Asn230= XP_047293389.1:p.Asn230Ser
GPI ethanolamine phosphate transferase 1 isoform X6 XP_047293396.1:p.Asn230= XP_047293396.1:p.Asn230Ser
GPI ethanolamine phosphate transferase 1 isoform X6 XP_047293391.1:p.Asn230= XP_047293391.1:p.Asn230Ser
GPI ethanolamine phosphate transferase 1 isoform X10 XP_047293413.1:p.Asn230= XP_047293413.1:p.Asn230Ser
GPI ethanolamine phosphate transferase 1 isoform X6 XP_047293395.1:p.Asn230= XP_047293395.1:p.Asn230Ser
GPI ethanolamine phosphate transferase 1 isoform X7 XP_047293402.1:p.Asn230= XP_047293402.1:p.Asn230Ser
GPI ethanolamine phosphate transferase 1 isoform X9 XP_047293406.1:p.Asn230= XP_047293406.1:p.Asn230Ser
GPI ethanolamine phosphate transferase 1 isoform X8 XP_047293409.1:p.Asn230= XP_047293409.1:p.Asn230Ser
GPI ethanolamine phosphate transferase 1 isoform X10 XP_047293410.1:p.Asn230= XP_047293410.1:p.Asn230Ser
GPI ethanolamine phosphate transferase 1 isoform X8 XP_047293407.1:p.Asn230= XP_047293407.1:p.Asn230Ser
GPI ethanolamine phosphate transferase 1 isoform X9 XP_047293411.1:p.Asn230= XP_047293411.1:p.Asn230Ser
GPI ethanolamine phosphate transferase 1 isoform X3 XP_047293397.1:p.Asn230= XP_047293397.1:p.Asn230Ser
GPI ethanolamine phosphate transferase 1 isoform X10 XP_047293412.1:p.Asn230= XP_047293412.1:p.Asn230Ser
GPI ethanolamine phosphate transferase 1 isoform X7 XP_047293399.1:p.Asn230= XP_047293399.1:p.Asn230Ser
GPI ethanolamine phosphate transferase 1 isoform X8 XP_047293408.1:p.Asn230= XP_047293408.1:p.Asn230Ser
GPI ethanolamine phosphate transferase 1 isoform X10 XP_047293414.1:p.Asn230= XP_047293414.1:p.Asn230Ser
GPI ethanolamine phosphate transferase 1 isoform X7 XP_047293401.1:p.Asn230= XP_047293401.1:p.Asn230Ser
GPI ethanolamine phosphate transferase 1 isoform X10 XP_047293415.1:p.Asn230= XP_047293415.1:p.Asn230Ser
GPI ethanolamine phosphate transferase 1 isoform X7 XP_047293404.1:p.Asn230= XP_047293404.1:p.Asn230Ser
GPI ethanolamine phosphate transferase 1 isoform X7 XP_047293403.1:p.Asn230= XP_047293403.1:p.Asn230Ser
GPI ethanolamine phosphate transferase 1 isoform X7 XP_047293400.1:p.Asn230= XP_047293400.1:p.Asn230Ser
GPI ethanolamine phosphate transferase 1 isoform X7 XP_047293405.1:p.Asn230= XP_047293405.1:p.Asn230Ser
GPI ethanolamine phosphate transferase 1 isoform X11 XP_047293416.1:p.Asn230= XP_047293416.1:p.Asn230Ser
GPI ethanolamine phosphate transferase 1 isoform X11 XP_047293419.1:p.Asn230= XP_047293419.1:p.Asn230Ser
GPI ethanolamine phosphate transferase 1 isoform X11 XP_047293418.1:p.Asn230= XP_047293418.1:p.Asn230Ser
GPI ethanolamine phosphate transferase 1 isoform X11 XP_047293420.1:p.Asn230= XP_047293420.1:p.Asn230Ser
GPI ethanolamine phosphate transferase 1 isoform X3 XP_047293386.1:p.Asn230= XP_047293386.1:p.Asn230Ser
GPI ethanolamine phosphate transferase 1 isoform X3 XP_047293398.1:p.Asn230= XP_047293398.1:p.Asn230Ser
GPI ethanolamine phosphate transferase 1 isoform X4 XP_047293387.1:p.Asn230= XP_047293387.1:p.Asn230Ser
GPI ethanolamine phosphate transferase 1 isoform X12 XP_047293417.1:p.Asn230= XP_047293417.1:p.Asn230Ser
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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#.

2 SubSNP, 2 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2749967884 Nov 08, 2017 (151)
2 GNOMAD ss2957856416 Nov 08, 2017 (151)
3 gnomAD - Genomes NC_000018.10 - 62147087 Apr 26, 2021 (155)
4 ALFA NC_000018.10 - 62147087 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
ss2749967884, ss2957856416 NC_000018.9:59814319:T:C NC_000018.10:62147086:T:C (self)
527532900, 12772458940 NC_000018.10:62147086:T:C NC_000018.10:62147086:T:C (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 rs1486244565

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.post820+afb47a3d