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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.

rs1483718644

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr9:137555324-137555325 (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
ins(A)5
Variation Type
Insertion
Frequency
ins(A)5=0.0001 (1/8988, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
DPH7 : Frameshift Variant
LOC124902317 : 2KB Upstream 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 8988 =0.9999 AAAAA=0.0001 0.999777 0.0 0.000223 0
European Sub 6062 =1.0000 AAAAA=0.0000 1.0 0.0 0.0 N/A
African Sub 594 =1.000 AAAAA=0.000 1.0 0.0 0.0 N/A
African Others Sub 8 =1.0 AAAAA=0.0 1.0 0.0 0.0 N/A
African American Sub 586 =1.000 AAAAA=0.000 1.0 0.0 0.0 N/A
Asian Sub 56 =1.00 AAAAA=0.00 1.0 0.0 0.0 N/A
East Asian Sub 26 =1.00 AAAAA=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 30 =1.00 AAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 0 =0 AAAAA=0 0 0 0 N/A
Latin American 2 Sub 0 =0 AAAAA=0 0 0 0 N/A
South Asian Sub 0 =0 AAAAA=0 0 0 0 N/A
Other Sub 2276 =0.9996 AAAAA=0.0004 0.999121 0.0 0.000879 0


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
Allele Frequency Aggregator Total Global 8988 -

No frequency provided

ins(A)5=0.0001
Allele Frequency Aggregator European Sub 6062 -

No frequency provided

ins(A)5=0.0000
Allele Frequency Aggregator Other Sub 2276 -

No frequency provided

ins(A)5=0.0004
Allele Frequency Aggregator African Sub 594 -

No frequency provided

ins(A)5=0.000
Allele Frequency Aggregator Asian Sub 56 -

No frequency provided

ins(A)5=0.00
Allele Frequency Aggregator Latin American 1 Sub 0 -

No frequency provided

ins(A)5=0
Allele Frequency Aggregator Latin American 2 Sub 0 -

No frequency provided

ins(A)5=0
Allele Frequency Aggregator South Asian Sub 0 -

No frequency provided

ins(A)5=0
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 9 NC_000009.12:g.137555324_137555325insAAAAA
GRCh37.p13 chr 9 NC_000009.11:g.140449776_140449777insAAAAA
DPH7 RefSeqGene NG_051807.1:g.28611_28612insTTTTT
Gene: DPH7, diphthamide biosynthesis 7 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
DPH7 transcript variant 3 NM_001346371.2:c.*1429_*1…

NM_001346371.2:c.*1429_*1430=

N/A 3 Prime UTR Variant
DPH7 transcript variant 4 NM_001346372.2:c.*1517_*1…

NM_001346372.2:c.*1517_*1518=

N/A 3 Prime UTR Variant
DPH7 transcript variant 6 NM_001346374.2:c.*1517_*1…

NM_001346374.2:c.*1517_*1518=

N/A 3 Prime UTR Variant
DPH7 transcript variant 1 NM_138778.5:c.1273_1274in…

NM_138778.5:c.1273_1274insTTTTT

E [GAA] > V [GTTTTTAA] Coding Sequence Variant
diphthine methyltransferase isoform a NP_620133.1:p.Glu425fs E (Glu) > V (Val) Frameshift Variant
DPH7 transcript variant 19 NM_001346387.2:c.745_746i…

NM_001346387.2:c.745_746insTTTTT

E [GAA] > V [GTTTTTAA] Coding Sequence Variant
diphthine methyltransferase isoform g NP_001333316.1:p.Glu249fs E (Glu) > V (Val) Frameshift Variant
DPH7 transcript variant 28 NM_001346396.2:c.679_680i…

NM_001346396.2:c.679_680insTTTTT

E [GAA] > V [GTTTTTAA] Coding Sequence Variant
diphthine methyltransferase isoform h NP_001333325.1:p.Glu227fs E (Glu) > V (Val) Frameshift Variant
DPH7 transcript variant 11 NM_001346379.2:c.745_746i…

NM_001346379.2:c.745_746insTTTTT

E [GAA] > V [GTTTTTAA] Coding Sequence Variant
diphthine methyltransferase isoform g NP_001333308.1:p.Glu249fs E (Glu) > V (Val) Frameshift Variant
DPH7 transcript variant 24 NM_001346392.2:c.745_746i…

NM_001346392.2:c.745_746insTTTTT

E [GAA] > V [GTTTTTAA] Coding Sequence Variant
diphthine methyltransferase isoform g NP_001333321.1:p.Glu249fs E (Glu) > V (Val) Frameshift Variant
DPH7 transcript variant 16 NM_001346384.2:c.745_746i…

NM_001346384.2:c.745_746insTTTTT

E [GAA] > V [GTTTTTAA] Coding Sequence Variant
diphthine methyltransferase isoform g NP_001333313.1:p.Glu249fs E (Glu) > V (Val) Frameshift Variant
DPH7 transcript variant 27 NM_001346395.2:c.679_680i…

NM_001346395.2:c.679_680insTTTTT

E [GAA] > V [GTTTTTAA] Coding Sequence Variant
diphthine methyltransferase isoform h NP_001333324.1:p.Glu227fs E (Glu) > V (Val) Frameshift Variant
DPH7 transcript variant 8 NM_001346376.2:c.745_746i…

NM_001346376.2:c.745_746insTTTTT

E [GAA] > V [GTTTTTAA] Coding Sequence Variant
diphthine methyltransferase isoform g NP_001333305.1:p.Glu249fs E (Glu) > V (Val) Frameshift Variant
DPH7 transcript variant 20 NM_001346388.2:c.745_746i…

NM_001346388.2:c.745_746insTTTTT

E [GAA] > V [GTTTTTAA] Coding Sequence Variant
diphthine methyltransferase isoform g NP_001333317.1:p.Glu249fs E (Glu) > V (Val) Frameshift Variant
DPH7 transcript variant 9 NM_001346377.2:c.745_746i…

NM_001346377.2:c.745_746insTTTTT

E [GAA] > V [GTTTTTAA] Coding Sequence Variant
diphthine methyltransferase isoform g NP_001333306.1:p.Glu249fs E (Glu) > V (Val) Frameshift Variant
DPH7 transcript variant 13 NM_001346381.2:c.745_746i…

NM_001346381.2:c.745_746insTTTTT

E [GAA] > V [GTTTTTAA] Coding Sequence Variant
diphthine methyltransferase isoform g NP_001333310.1:p.Glu249fs E (Glu) > V (Val) Frameshift Variant
DPH7 transcript variant 26 NM_001346394.2:c.679_680i…

NM_001346394.2:c.679_680insTTTTT

E [GAA] > V [GTTTTTAA] Coding Sequence Variant
diphthine methyltransferase isoform h NP_001333323.1:p.Glu227fs E (Glu) > V (Val) Frameshift Variant
DPH7 transcript variant 21 NM_001346389.2:c.745_746i…

NM_001346389.2:c.745_746insTTTTT

E [GAA] > V [GTTTTTAA] Coding Sequence Variant
diphthine methyltransferase isoform g NP_001333318.1:p.Glu249fs E (Glu) > V (Val) Frameshift Variant
DPH7 transcript variant 14 NM_001346382.2:c.745_746i…

NM_001346382.2:c.745_746insTTTTT

E [GAA] > V [GTTTTTAA] Coding Sequence Variant
diphthine methyltransferase isoform g NP_001333311.1:p.Glu249fs E (Glu) > V (Val) Frameshift Variant
DPH7 transcript variant 25 NM_001346393.2:c.679_680i…

NM_001346393.2:c.679_680insTTTTT

E [GAA] > V [GTTTTTAA] Coding Sequence Variant
diphthine methyltransferase isoform h NP_001333322.1:p.Glu227fs E (Glu) > V (Val) Frameshift Variant
DPH7 transcript variant 17 NM_001346385.2:c.745_746i…

NM_001346385.2:c.745_746insTTTTT

E [GAA] > V [GTTTTTAA] Coding Sequence Variant
diphthine methyltransferase isoform g NP_001333314.1:p.Glu249fs E (Glu) > V (Val) Frameshift Variant
DPH7 transcript variant 22 NM_001346390.2:c.745_746i…

NM_001346390.2:c.745_746insTTTTT

E [GAA] > V [GTTTTTAA] Coding Sequence Variant
diphthine methyltransferase isoform g NP_001333319.1:p.Glu249fs E (Glu) > V (Val) Frameshift Variant
DPH7 transcript variant 2 NM_001346370.2:c.1207_120…

NM_001346370.2:c.1207_1208insTTTTT

E [GAA] > V [GTTTTTAA] Coding Sequence Variant
diphthine methyltransferase isoform b NP_001333299.1:p.Glu403fs E (Glu) > V (Val) Frameshift Variant
DPH7 transcript variant 12 NM_001346380.2:c.745_746i…

NM_001346380.2:c.745_746insTTTTT

E [GAA] > V [GTTTTTAA] Coding Sequence Variant
diphthine methyltransferase isoform g NP_001333309.1:p.Glu249fs E (Glu) > V (Val) Frameshift Variant
DPH7 transcript variant 7 NM_001346375.2:c.745_746i…

NM_001346375.2:c.745_746insTTTTT

E [GAA] > V [GTTTTTAA] Coding Sequence Variant
diphthine methyltransferase isoform g NP_001333304.1:p.Glu249fs E (Glu) > V (Val) Frameshift Variant
DPH7 transcript variant 23 NM_001346391.2:c.745_746i…

NM_001346391.2:c.745_746insTTTTT

E [GAA] > V [GTTTTTAA] Coding Sequence Variant
diphthine methyltransferase isoform g NP_001333320.1:p.Glu249fs E (Glu) > V (Val) Frameshift Variant
DPH7 transcript variant 10 NM_001346378.2:c.745_746i…

NM_001346378.2:c.745_746insTTTTT

E [GAA] > V [GTTTTTAA] Coding Sequence Variant
diphthine methyltransferase isoform g NP_001333307.1:p.Glu249fs E (Glu) > V (Val) Frameshift Variant
DPH7 transcript variant 15 NM_001346383.2:c.745_746i…

NM_001346383.2:c.745_746insTTTTT

E [GAA] > V [GTTTTTAA] Coding Sequence Variant
diphthine methyltransferase isoform g NP_001333312.1:p.Glu249fs E (Glu) > V (Val) Frameshift Variant
DPH7 transcript variant 18 NM_001346386.2:c.745_746i…

NM_001346386.2:c.745_746insTTTTT

E [GAA] > V [GTTTTTAA] Coding Sequence Variant
diphthine methyltransferase isoform g NP_001333315.1:p.Glu249fs E (Glu) > V (Val) Frameshift Variant
DPH7 transcript variant 5 NM_001346373.2:c.871_872i…

NM_001346373.2:c.871_872insTTTTT

E [GAA] > V [GTTTTTAA] Coding Sequence Variant
diphthine methyltransferase isoform e NP_001333302.1:p.Glu291fs E (Glu) > V (Val) Frameshift Variant
Gene: LOC124902317, uncharacterized LOC124902317 (minus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
LOC124902317 transcript XR_007061883.1:n. N/A Upstream 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 = ins(A)5
GRCh38.p14 chr 9 NC_000009.12:g.137555324_137555325= NC_000009.12:g.137555324_137555325insAAAAA
GRCh37.p13 chr 9 NC_000009.11:g.140449776_140449777= NC_000009.11:g.140449776_140449777insAAAAA
DPH7 RefSeqGene NG_051807.1:g.28611_28612= NG_051807.1:g.28611_28612insTTTTT
DPH7 transcript variant 1 NM_138778.5:c.1273_1274= NM_138778.5:c.1273_1274insTTTTT
DPH7 transcript variant 1 NM_138778.4:c.1273_1274= NM_138778.4:c.1273_1274insTTTTT
DPH7 transcript NM_138778.3:c.1273_1274= NM_138778.3:c.1273_1274insTTTTT
DPH7 transcript NM_138778.2:c.1273_1274= NM_138778.2:c.1273_1274insTTTTT
DPH7 transcript variant 18 NM_001346386.2:c.745_746= NM_001346386.2:c.745_746insTTTTT
DPH7 transcript variant 18 NM_001346386.1:c.745_746= NM_001346386.1:c.745_746insTTTTT
DPH7 transcript variant 25 NM_001346393.2:c.679_680= NM_001346393.2:c.679_680insTTTTT
DPH7 transcript variant 25 NM_001346393.1:c.679_680= NM_001346393.1:c.679_680insTTTTT
DPH7 transcript variant 24 NM_001346392.2:c.745_746= NM_001346392.2:c.745_746insTTTTT
DPH7 transcript variant 24 NM_001346392.1:c.745_746= NM_001346392.1:c.745_746insTTTTT
DPH7 transcript variant 4 NM_001346372.2:c.*1517_*1518= NM_001346372.2:c.*1517_*1518insTTTTT
DPH7 transcript variant 4 NM_001346372.1:c.*1517_*1518= NM_001346372.1:c.*1517_*1518insTTTTT
DPH7 transcript variant 3 NM_001346371.2:c.*1429_*1430= NM_001346371.2:c.*1429_*1430insTTTTT
DPH7 transcript variant 3 NM_001346371.1:c.*1429_*1430= NM_001346371.1:c.*1429_*1430insTTTTT
DPH7 transcript variant 6 NM_001346374.2:c.*1517_*1518= NM_001346374.2:c.*1517_*1518insTTTTT
DPH7 transcript variant 6 NM_001346374.1:c.*1517_*1518= NM_001346374.1:c.*1517_*1518insTTTTT
DPH7 transcript variant 28 NM_001346396.2:c.679_680= NM_001346396.2:c.679_680insTTTTT
DPH7 transcript variant 28 NM_001346396.1:c.679_680= NM_001346396.1:c.679_680insTTTTT
DPH7 transcript variant 22 NM_001346390.2:c.745_746= NM_001346390.2:c.745_746insTTTTT
DPH7 transcript variant 22 NM_001346390.1:c.745_746= NM_001346390.1:c.745_746insTTTTT
DPH7 transcript variant 13 NM_001346381.2:c.745_746= NM_001346381.2:c.745_746insTTTTT
DPH7 transcript variant 13 NM_001346381.1:c.745_746= NM_001346381.1:c.745_746insTTTTT
DPH7 transcript variant 23 NM_001346391.2:c.745_746= NM_001346391.2:c.745_746insTTTTT
DPH7 transcript variant 23 NM_001346391.1:c.745_746= NM_001346391.1:c.745_746insTTTTT
DPH7 transcript variant 8 NM_001346376.2:c.745_746= NM_001346376.2:c.745_746insTTTTT
DPH7 transcript variant 8 NM_001346376.1:c.745_746= NM_001346376.1:c.745_746insTTTTT
DPH7 transcript variant 26 NM_001346394.2:c.679_680= NM_001346394.2:c.679_680insTTTTT
DPH7 transcript variant 26 NM_001346394.1:c.679_680= NM_001346394.1:c.679_680insTTTTT
DPH7 transcript variant 27 NM_001346395.2:c.679_680= NM_001346395.2:c.679_680insTTTTT
DPH7 transcript variant 27 NM_001346395.1:c.679_680= NM_001346395.1:c.679_680insTTTTT
DPH7 transcript variant 14 NM_001346382.2:c.745_746= NM_001346382.2:c.745_746insTTTTT
DPH7 transcript variant 14 NM_001346382.1:c.745_746= NM_001346382.1:c.745_746insTTTTT
DPH7 transcript variant 15 NM_001346383.2:c.745_746= NM_001346383.2:c.745_746insTTTTT
DPH7 transcript variant 15 NM_001346383.1:c.745_746= NM_001346383.1:c.745_746insTTTTT
DPH7 transcript variant 11 NM_001346379.2:c.745_746= NM_001346379.2:c.745_746insTTTTT
DPH7 transcript variant 11 NM_001346379.1:c.745_746= NM_001346379.1:c.745_746insTTTTT
DPH7 transcript variant 12 NM_001346380.2:c.745_746= NM_001346380.2:c.745_746insTTTTT
DPH7 transcript variant 12 NM_001346380.1:c.745_746= NM_001346380.1:c.745_746insTTTTT
DPH7 transcript variant 7 NM_001346375.2:c.745_746= NM_001346375.2:c.745_746insTTTTT
DPH7 transcript variant 7 NM_001346375.1:c.745_746= NM_001346375.1:c.745_746insTTTTT
DPH7 transcript variant 17 NM_001346385.2:c.745_746= NM_001346385.2:c.745_746insTTTTT
DPH7 transcript variant 17 NM_001346385.1:c.745_746= NM_001346385.1:c.745_746insTTTTT
DPH7 transcript variant 21 NM_001346389.2:c.745_746= NM_001346389.2:c.745_746insTTTTT
DPH7 transcript variant 21 NM_001346389.1:c.745_746= NM_001346389.1:c.745_746insTTTTT
DPH7 transcript variant 10 NM_001346378.2:c.745_746= NM_001346378.2:c.745_746insTTTTT
DPH7 transcript variant 10 NM_001346378.1:c.745_746= NM_001346378.1:c.745_746insTTTTT
DPH7 transcript variant 9 NM_001346377.2:c.745_746= NM_001346377.2:c.745_746insTTTTT
DPH7 transcript variant 9 NM_001346377.1:c.745_746= NM_001346377.1:c.745_746insTTTTT
DPH7 transcript variant 20 NM_001346388.2:c.745_746= NM_001346388.2:c.745_746insTTTTT
DPH7 transcript variant 20 NM_001346388.1:c.745_746= NM_001346388.1:c.745_746insTTTTT
DPH7 transcript variant 19 NM_001346387.2:c.745_746= NM_001346387.2:c.745_746insTTTTT
DPH7 transcript variant 19 NM_001346387.1:c.745_746= NM_001346387.1:c.745_746insTTTTT
DPH7 transcript variant 2 NM_001346370.2:c.1207_1208= NM_001346370.2:c.1207_1208insTTTTT
DPH7 transcript variant 2 NM_001346370.1:c.1207_1208= NM_001346370.1:c.1207_1208insTTTTT
DPH7 transcript variant 16 NM_001346384.2:c.745_746= NM_001346384.2:c.745_746insTTTTT
DPH7 transcript variant 16 NM_001346384.1:c.745_746= NM_001346384.1:c.745_746insTTTTT
DPH7 transcript variant 5 NM_001346373.2:c.871_872= NM_001346373.2:c.871_872insTTTTT
DPH7 transcript variant 5 NM_001346373.1:c.871_872= NM_001346373.1:c.871_872insTTTTT
diphthine methyltransferase isoform a NP_620133.1:p.Glu425_Glu426= NP_620133.1:p.Glu425fs
diphthine methyltransferase isoform g NP_001333315.1:p.Glu249_Glu250= NP_001333315.1:p.Glu249fs
diphthine methyltransferase isoform h NP_001333322.1:p.Glu227_Glu228= NP_001333322.1:p.Glu227fs
diphthine methyltransferase isoform g NP_001333321.1:p.Glu249_Glu250= NP_001333321.1:p.Glu249fs
diphthine methyltransferase isoform h NP_001333325.1:p.Glu227_Glu228= NP_001333325.1:p.Glu227fs
diphthine methyltransferase isoform g NP_001333319.1:p.Glu249_Glu250= NP_001333319.1:p.Glu249fs
diphthine methyltransferase isoform g NP_001333310.1:p.Glu249_Glu250= NP_001333310.1:p.Glu249fs
diphthine methyltransferase isoform g NP_001333320.1:p.Glu249_Glu250= NP_001333320.1:p.Glu249fs
diphthine methyltransferase isoform g NP_001333305.1:p.Glu249_Glu250= NP_001333305.1:p.Glu249fs
diphthine methyltransferase isoform h NP_001333323.1:p.Glu227_Glu228= NP_001333323.1:p.Glu227fs
diphthine methyltransferase isoform h NP_001333324.1:p.Glu227_Glu228= NP_001333324.1:p.Glu227fs
diphthine methyltransferase isoform g NP_001333311.1:p.Glu249_Glu250= NP_001333311.1:p.Glu249fs
diphthine methyltransferase isoform g NP_001333312.1:p.Glu249_Glu250= NP_001333312.1:p.Glu249fs
diphthine methyltransferase isoform g NP_001333308.1:p.Glu249_Glu250= NP_001333308.1:p.Glu249fs
diphthine methyltransferase isoform g NP_001333309.1:p.Glu249_Glu250= NP_001333309.1:p.Glu249fs
diphthine methyltransferase isoform g NP_001333304.1:p.Glu249_Glu250= NP_001333304.1:p.Glu249fs
diphthine methyltransferase isoform g NP_001333314.1:p.Glu249_Glu250= NP_001333314.1:p.Glu249fs
diphthine methyltransferase isoform g NP_001333318.1:p.Glu249_Glu250= NP_001333318.1:p.Glu249fs
diphthine methyltransferase isoform g NP_001333307.1:p.Glu249_Glu250= NP_001333307.1:p.Glu249fs
diphthine methyltransferase isoform g NP_001333306.1:p.Glu249_Glu250= NP_001333306.1:p.Glu249fs
diphthine methyltransferase isoform g NP_001333317.1:p.Glu249_Glu250= NP_001333317.1:p.Glu249fs
diphthine methyltransferase isoform g NP_001333316.1:p.Glu249_Glu250= NP_001333316.1:p.Glu249fs
diphthine methyltransferase isoform b NP_001333299.1:p.Glu403_Glu404= NP_001333299.1:p.Glu403fs
diphthine methyltransferase isoform g NP_001333313.1:p.Glu249_Glu250= NP_001333313.1:p.Glu249fs
diphthine methyltransferase isoform e NP_001333302.1:p.Glu291_Glu292= NP_001333302.1:p.Glu291fs
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, 1 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2738062115 Nov 08, 2017 (151)
2 ALFA NC_000009.12 - 137555325 Apr 26, 2021 (155)
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
ss2738062115 NC_000009.11:140449776::AAAAA NC_000009.12:137555324::AAAAA (self)
12854573762 NC_000009.12:137555324::AAAAA NC_000009.12:137555324::AAAAA (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 rs1483718644

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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