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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 Aliases 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.

rs1698647

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr1:149001649 (GRCh38.p12) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.49998 (60703/121412, ExAC)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PDE4DIP : Missense Variant
Publications
0 citations
Genomic View
See rs on genome
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.p12 chr 1 NC_000001.11:g.149001649G>A
GRCh37.p13 chr 1 fix patch HG1287_PATCH NW_003871055.3:g.5817062G>A
PDE4DIP RefSeqGene NG_027693.2:g.198474G>A
GRCh37.p13 chr 1 NC_000001.10:g.144882823C>T
Gene: PDE4DIP, phosphodiesterase 4D interacting protein (plus strand)
Molecule type Change Amino acid[Codon] SO Term
PDE4DIP transcript variant 4 NM_001002810.3:c. N/A Genic Downstream Transcript Variant
PDE4DIP transcript variant 5 NM_001002811.2:c. N/A Genic Downstream Transcript Variant
PDE4DIP transcript variant 2 NM_001002812.2:c. N/A Genic Downstream Transcript Variant
PDE4DIP transcript variant 6 NM_001195260.1:c. N/A Genic Downstream Transcript Variant
PDE4DIP transcript variant 7 NM_001195261.1:c. N/A Genic Downstream Transcript Variant
PDE4DIP transcript variant 3 NM_022359.6:c. N/A Genic Downstream Transcript Variant
PDE4DIP transcript variant 8 NM_001198832.2:c.3394G>A A [GCA] > T [ACA] Coding Sequence Variant
myomegalin isoform 8 NP_001185761.2:p.Ala113...

NP_001185761.2:p.Ala1132Thr

A (Ala) > T (Thr) Missense Variant
PDE4DIP transcript variant 9 NM_001198834.3:c.3196G>A A [GCA] > T [ACA] Coding Sequence Variant
myomegalin isoform 9 NP_001185763.3:p.Ala106...

NP_001185763.3:p.Ala1066Thr

A (Ala) > T (Thr) Missense Variant
PDE4DIP transcript variant 1 NM_014644.5:c.3196G>A A [GCA] > T [ACA] Coding Sequence Variant
myomegalin isoform 1 NP_055459.5:p.Ala1066Thr A (Ala) > T (Thr) Missense Variant
PDE4DIP transcript variant 10 NM_001350520.1:c.3685G>A A [GCA] > T [ACA] Coding Sequence Variant
myomegalin isoform 10 NP_001337449.1:p.Ala122...

NP_001337449.1:p.Ala1229Thr

A (Ala) > T (Thr) Missense Variant
PDE4DIP transcript variant 12 NM_001350522.1:c.3394G>A A [GCA] > T [ACA] Coding Sequence Variant
myomegalin isoform 12 NP_001337451.1:p.Ala113...

NP_001337451.1:p.Ala1132Thr

A (Ala) > T (Thr) Missense Variant
PDE4DIP transcript variant 13 NM_001350523.1:c.3394G>A A [GCA] > T [ACA] Coding Sequence Variant
myomegalin isoform 13 NP_001337452.1:p.Ala113...

NP_001337452.1:p.Ala1132Thr

A (Ala) > T (Thr) Missense Variant
PDE4DIP transcript variant 11 NM_001350521.2:c.3607G>A A [GCA] > T [ACA] Coding Sequence Variant
myomegalin isoform 11 NP_001337450.1:p.Ala120...

NP_001337450.1:p.Ala1203Thr

A (Ala) > T (Thr) Missense Variant
PDE4DIP transcript variant X20 XM_006711651.1:c.3196G>A A [GCA] > T [ACA] Coding Sequence Variant
myomegalin isoform X19 XP_006711714.1:p.Ala106...

XP_006711714.1:p.Ala1066Thr

A (Ala) > T (Thr) Missense Variant
PDE4DIP transcript variant X22 XM_006711652.1:c.3196G>A A [GCA] > T [ACA] Coding Sequence Variant
myomegalin isoform X21 XP_006711715.1:p.Ala106...

XP_006711715.1:p.Ala1066Thr

A (Ala) > T (Thr) Missense Variant
PDE4DIP transcript variant X43 XM_011510179.1:c.3196G>A A [GCA] > T [ACA] Coding Sequence Variant
myomegalin isoform X36 XP_011508481.1:p.Ala106...

XP_011508481.1:p.Ala1066Thr

A (Ala) > T (Thr) Missense Variant
PDE4DIP transcript variant X26 XM_017002887.1:c.3100G>A A [GCA] > T [ACA] Coding Sequence Variant
myomegalin isoform X25 XP_016858376.1:p.Ala103...

XP_016858376.1:p.Ala1034Thr

A (Ala) > T (Thr) Missense Variant
PDE4DIP transcript variant X27 XM_017002888.1:c.3100G>A A [GCA] > T [ACA] Coding Sequence Variant
myomegalin isoform X25 XP_016858377.1:p.Ala103...

XP_016858377.1:p.Ala1034Thr

A (Ala) > T (Thr) Missense Variant
PDE4DIP transcript variant X32 XM_017002893.1:c.3010G>A A [GCA] > T [ACA] Coding Sequence Variant
myomegalin isoform X27 XP_016858382.1:p.Ala100...

XP_016858382.1:p.Ala1004Thr

A (Ala) > T (Thr) Missense Variant
PDE4DIP transcript variant X1 XM_006711642.3:c.3685G>A A [GCA] > T [ACA] Coding Sequence Variant
myomegalin isoform X1 XP_006711705.1:p.Ala122...

XP_006711705.1:p.Ala1229Thr

A (Ala) > T (Thr) Missense Variant
PDE4DIP transcript variant X2 XM_006711643.3:c.3685G>A A [GCA] > T [ACA] Coding Sequence Variant
myomegalin isoform X2 XP_006711706.1:p.Ala122...

XP_006711706.1:p.Ala1229Thr

A (Ala) > T (Thr) Missense Variant
PDE4DIP transcript variant X3 XM_005277442.5:c.3685G>A A [GCA] > T [ACA] Coding Sequence Variant
myomegalin isoform X3 XP_005277499.2:p.Ala122...

XP_005277499.2:p.Ala1229Thr

A (Ala) > T (Thr) Missense Variant
PDE4DIP transcript variant X4 XM_011510172.2:c.3607G>A A [GCA] > T [ACA] Coding Sequence Variant
myomegalin isoform X4 XP_011508474.1:p.Ala120...

XP_011508474.1:p.Ala1203Thr

A (Ala) > T (Thr) Missense Variant
PDE4DIP transcript variant X5 XM_011510173.2:c.3607G>A A [GCA] > T [ACA] Coding Sequence Variant
myomegalin isoform X5 XP_011508475.1:p.Ala120...

XP_011508475.1:p.Ala1203Thr

A (Ala) > T (Thr) Missense Variant
PDE4DIP transcript variant X6 XM_017002875.2:c.3685G>A A [GCA] > T [ACA] Coding Sequence Variant
myomegalin isoform X6 XP_016858364.1:p.Ala122...

XP_016858364.1:p.Ala1229Thr

A (Ala) > T (Thr) Missense Variant
PDE4DIP transcript variant X7 XM_017002876.2:c.3685G>A A [GCA] > T [ACA] Coding Sequence Variant
myomegalin isoform X7 XP_016858365.1:p.Ala122...

XP_016858365.1:p.Ala1229Thr

A (Ala) > T (Thr) Missense Variant
PDE4DIP transcript variant X8 XM_011510174.2:c.3685G>A A [GCA] > T [ACA] Coding Sequence Variant
myomegalin isoform X8 XP_011508476.1:p.Ala122...

XP_011508476.1:p.Ala1229Thr

A (Ala) > T (Thr) Missense Variant
PDE4DIP transcript variant X9 XM_005272981.4:c.3685G>A A [GCA] > T [ACA] Coding Sequence Variant
myomegalin isoform X9 XP_005273038.2:p.Ala122...

XP_005273038.2:p.Ala1229Thr

A (Ala) > T (Thr) Missense Variant
PDE4DIP transcript variant X11 XM_006711646.2:c.3394G>A A [GCA] > T [ACA] Coding Sequence Variant
myomegalin isoform X10 XP_006711709.1:p.Ala113...

XP_006711709.1:p.Ala1132Thr

A (Ala) > T (Thr) Missense Variant
PDE4DIP transcript variant X12 XM_017002878.2:c.3607G>A A [GCA] > T [ACA] Coding Sequence Variant
myomegalin isoform X11 XP_016858367.1:p.Ala120...

XP_016858367.1:p.Ala1203Thr

A (Ala) > T (Thr) Missense Variant
PDE4DIP transcript variant X13 XM_011510175.2:c.3607G>A A [GCA] > T [ACA] Coding Sequence Variant
myomegalin isoform X12 XP_011508477.1:p.Ala120...

XP_011508477.1:p.Ala1203Thr

A (Ala) > T (Thr) Missense Variant
PDE4DIP transcript variant X14 XM_006711648.3:c.3685G>A A [GCA] > T [ACA] Coding Sequence Variant
myomegalin isoform X13 XP_006711711.1:p.Ala122...

XP_006711711.1:p.Ala1229Thr

A (Ala) > T (Thr) Missense Variant
PDE4DIP transcript variant X15 XM_017002879.2:c.3685G>A A [GCA] > T [ACA] Coding Sequence Variant
myomegalin isoform X14 XP_016858368.1:p.Ala122...

XP_016858368.1:p.Ala1229Thr

A (Ala) > T (Thr) Missense Variant
PDE4DIP transcript variant X16 XM_017002881.2:c.3685G>A A [GCA] > T [ACA] Coding Sequence Variant
myomegalin isoform X15 XP_016858370.1:p.Ala122...

XP_016858370.1:p.Ala1229Thr

A (Ala) > T (Thr) Missense Variant
PDE4DIP transcript variant X17 XM_017002882.2:c.3685G>A A [GCA] > T [ACA] Coding Sequence Variant
myomegalin isoform X16 XP_016858371.1:p.Ala122...

XP_016858371.1:p.Ala1229Thr

A (Ala) > T (Thr) Missense Variant
PDE4DIP transcript variant X18 XM_017002883.2:c.3685G>A A [GCA] > T [ACA] Coding Sequence Variant
myomegalin isoform X17 XP_016858372.1:p.Ala122...

XP_016858372.1:p.Ala1229Thr

A (Ala) > T (Thr) Missense Variant
PDE4DIP transcript variant X19 XM_006711650.4:c.3205G>A A [GCA] > T [ACA] Coding Sequence Variant
myomegalin isoform X18 XP_006711713.1:p.Ala106...

XP_006711713.1:p.Ala1069Thr

A (Ala) > T (Thr) Missense Variant
PDE4DIP transcript variant X21 XM_017002884.2:c.3685G>A A [GCA] > T [ACA] Coding Sequence Variant
myomegalin isoform X20 XP_016858373.1:p.Ala122...

XP_016858373.1:p.Ala1229Thr

A (Ala) > T (Thr) Missense Variant
PDE4DIP transcript variant X23 XM_024451067.1:c.3607G>A A [GCA] > T [ACA] Coding Sequence Variant
myomegalin isoform X22 XP_024306835.1:p.Ala120...

XP_024306835.1:p.Ala1203Thr

A (Ala) > T (Thr) Missense Variant
PDE4DIP transcript variant X24 XM_017002885.2:c.3685G>A A [GCA] > T [ACA] Coding Sequence Variant
myomegalin isoform X23 XP_016858374.1:p.Ala122...

XP_016858374.1:p.Ala1229Thr

A (Ala) > T (Thr) Missense Variant
PDE4DIP transcript variant X25 XM_017002886.2:c.3685G>A A [GCA] > T [ACA] Coding Sequence Variant
myomegalin isoform X24 XP_016858375.1:p.Ala122...

XP_016858375.1:p.Ala1229Thr

A (Ala) > T (Thr) Missense Variant
PDE4DIP transcript variant X28 XM_017002889.2:c.3100G>A A [GCA] > T [ACA] Coding Sequence Variant
myomegalin isoform X25 XP_016858378.1:p.Ala103...

XP_016858378.1:p.Ala1034Thr

A (Ala) > T (Thr) Missense Variant
PDE4DIP transcript variant X29 XM_017002890.2:c.3685G>A A [GCA] > T [ACA] Coding Sequence Variant
myomegalin isoform X26 XP_016858379.1:p.Ala122...

XP_016858379.1:p.Ala1229Thr

A (Ala) > T (Thr) Missense Variant
PDE4DIP transcript variant X30 XM_017002891.2:c.3010G>A A [GCA] > T [ACA] Coding Sequence Variant
myomegalin isoform X27 XP_016858380.1:p.Ala100...

XP_016858380.1:p.Ala1004Thr

A (Ala) > T (Thr) Missense Variant
PDE4DIP transcript variant X31 XM_017002892.2:c.3010G>A A [GCA] > T [ACA] Coding Sequence Variant
myomegalin isoform X27 XP_016858381.1:p.Ala100...

XP_016858381.1:p.Ala1004Thr

A (Ala) > T (Thr) Missense Variant
PDE4DIP transcript variant X33 XM_017002894.2:c.3010G>A A [GCA] > T [ACA] Coding Sequence Variant
myomegalin isoform X27 XP_016858383.1:p.Ala100...

XP_016858383.1:p.Ala1004Thr

A (Ala) > T (Thr) Missense Variant
PDE4DIP transcript variant X34 XM_017002895.2:c.3010G>A A [GCA] > T [ACA] Coding Sequence Variant
myomegalin isoform X27 XP_016858384.1:p.Ala100...

XP_016858384.1:p.Ala1004Thr

A (Ala) > T (Thr) Missense Variant
PDE4DIP transcript variant X35 XM_017002896.2:c.3685G>A A [GCA] > T [ACA] Coding Sequence Variant
myomegalin isoform X28 XP_016858385.1:p.Ala122...

XP_016858385.1:p.Ala1229Thr

A (Ala) > T (Thr) Missense Variant
PDE4DIP transcript variant X36 XM_017002897.2:c.3685G>A A [GCA] > T [ACA] Coding Sequence Variant
myomegalin isoform X29 XP_016858386.1:p.Ala122...

XP_016858386.1:p.Ala1229Thr

A (Ala) > T (Thr) Missense Variant
PDE4DIP transcript variant X37 XM_024451068.1:c.3607G>A A [GCA] > T [ACA] Coding Sequence Variant
myomegalin isoform X30 XP_024306836.1:p.Ala120...

XP_024306836.1:p.Ala1203Thr

A (Ala) > T (Thr) Missense Variant
PDE4DIP transcript variant X38 XM_011510176.2:c.3607G>A A [GCA] > T [ACA] Coding Sequence Variant
myomegalin isoform X31 XP_011508478.1:p.Ala120...

XP_011508478.1:p.Ala1203Thr

A (Ala) > T (Thr) Missense Variant
PDE4DIP transcript variant X39 XM_017002899.2:c.3394G>A A [GCA] > T [ACA] Coding Sequence Variant
myomegalin isoform X32 XP_016858388.1:p.Ala113...

XP_016858388.1:p.Ala1132Thr

A (Ala) > T (Thr) Missense Variant
PDE4DIP transcript variant X40 XM_017002900.2:c.3685G>A A [GCA] > T [ACA] Coding Sequence Variant
myomegalin isoform X33 XP_016858389.1:p.Ala122...

XP_016858389.1:p.Ala1229Thr

A (Ala) > T (Thr) Missense Variant
PDE4DIP transcript variant X41 XM_017002901.2:c.3685G>A A [GCA] > T [ACA] Coding Sequence Variant
myomegalin isoform X34 XP_016858390.1:p.Ala122...

XP_016858390.1:p.Ala1229Thr

A (Ala) > T (Thr) Missense Variant
PDE4DIP transcript variant X42 XM_017002903.2:c.3394G>A A [GCA] > T [ACA] Coding Sequence Variant
myomegalin isoform X35 XP_016858392.1:p.Ala113...

XP_016858392.1:p.Ala1132Thr

A (Ala) > T (Thr) Missense Variant
PDE4DIP transcript variant X10 XR_001737551.2:n.4092G>A 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

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
ExAC Global Study-wide 121412 G=0.50002 A=0.49998
ExAC Europe Sub 73354 G=0.5000 A=0.5000
ExAC Asian Sub 25166 G=0.5000 A=0.5000
ExAC American Sub 11578 G=0.5000 A=0.5000
ExAC African Sub 10406 G=0.5000 A=0.5000
ExAC Other Sub 908 G=0.50 A=0.50
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 G= A Note
GRCh38.p12 chr 1 NC_000001.11:g.149001649= NC_000001.11:g.14900164...

NC_000001.11:g.149001649G>A

GRCh37.p13 chr 1 fix patch HG1287_PATCH NW_003871055.3:g.5817062= NW_003871055.3:g.581706...

NW_003871055.3:g.5817062G>A

PDE4DIP RefSeqGene NG_027693.2:g.198474= NG_027693.2:g.198474G>A
PDE4DIP transcript variant 1 NM_014644.5:c.3196= NM_014644.5:c.3196G>A
PDE4DIP transcript variant 9 NM_001198834.3:c.3196= NM_001198834.3:c.3196G>A
PDE4DIP transcript variant 11 NM_001350521.2:c.3607= NM_001350521.2:c.3607G>A
PDE4DIP transcript variant 11 NM_001350521.1:c.3607= NM_001350521.1:c.3607G>A
PDE4DIP transcript variant 8 NM_001198832.2:c.3394= NM_001198832.2:c.3394G>A
PDE4DIP transcript variant 10 NM_001350520.1:c.3685= NM_001350520.1:c.3685G>A
PDE4DIP transcript variant 12 NM_001350522.1:c.3394= NM_001350522.1:c.3394G>A
PDE4DIP transcript variant 13 NM_001350523.1:c.3394= NM_001350523.1:c.3394G>A
GRCh37.p13 chr 1 NC_000001.10:g.144882823= NC_000001.10:g.14488282...

NC_000001.10:g.144882823C>T

PDE4DIP transcript variant X3 XM_005277442.5:c.3685= XM_005277442.5:c.3685G>A
PDE4DIP transcript variant X1 XM_005277442.1:c.3685= XM_005277442.1:c.3685G>A
PDE4DIP transcript variant X9 XM_005272981.4:c.3685= XM_005272981.4:c.3685G>A
PDE4DIP transcript variant X1 XM_005272981.1:c.3685= XM_005272981.1:c.3685G>A
PDE4DIP transcript variant X19 XM_006711650.4:c.3205= XM_006711650.4:c.3205G>A
PDE4DIP transcript variant X1 XM_006711642.3:c.3685= XM_006711642.3:c.3685G>A
PDE4DIP transcript variant X2 XM_006711643.3:c.3685= XM_006711643.3:c.3685G>A
PDE4DIP transcript variant X14 XM_006711648.3:c.3685= XM_006711648.3:c.3685G>A
PDE4DIP transcript variant X12 XM_017002878.2:c.3607= XM_017002878.2:c.3607G>A
PDE4DIP transcript variant X13 XM_011510175.2:c.3607= XM_011510175.2:c.3607G>A
PDE4DIP transcript variant X4 XM_011510172.2:c.3607= XM_011510172.2:c.3607G>A
PDE4DIP transcript variant X5 XM_011510173.2:c.3607= XM_011510173.2:c.3607G>A
PDE4DIP transcript variant X16 XM_017002881.2:c.3685= XM_017002881.2:c.3685G>A
PDE4DIP transcript variant X17 XM_017002882.2:c.3685= XM_017002882.2:c.3685G>A
PDE4DIP transcript variant X8 XM_011510174.2:c.3685= XM_011510174.2:c.3685G>A
PDE4DIP transcript variant X21 XM_017002884.2:c.3685= XM_017002884.2:c.3685G>A
PDE4DIP transcript variant X15 XM_017002879.2:c.3685= XM_017002879.2:c.3685G>A
PDE4DIP transcript variant X28 XM_017002889.2:c.3100= XM_017002889.2:c.3100G>A
PDE4DIP transcript variant X18 XM_017002883.2:c.3685= XM_017002883.2:c.3685G>A
PDE4DIP transcript variant X33 XM_017002894.2:c.3010= XM_017002894.2:c.3010G>A
PDE4DIP transcript variant X24 XM_017002885.2:c.3685= XM_017002885.2:c.3685G>A
PDE4DIP transcript variant X25 XM_017002886.2:c.3685= XM_017002886.2:c.3685G>A
PDE4DIP transcript variant X11 XM_006711646.2:c.3394= XM_006711646.2:c.3394G>A
PDE4DIP transcript variant X35 XM_017002896.2:c.3685= XM_017002896.2:c.3685G>A
PDE4DIP transcript variant X30 XM_017002891.2:c.3010= XM_017002891.2:c.3010G>A
PDE4DIP transcript variant X36 XM_017002897.2:c.3685= XM_017002897.2:c.3685G>A
PDE4DIP transcript variant X31 XM_017002892.2:c.3010= XM_017002892.2:c.3010G>A
PDE4DIP transcript variant X29 XM_017002890.2:c.3685= XM_017002890.2:c.3685G>A
PDE4DIP transcript variant X7 XM_017002876.2:c.3685= XM_017002876.2:c.3685G>A
PDE4DIP transcript variant X6 XM_017002875.2:c.3685= XM_017002875.2:c.3685G>A
PDE4DIP transcript variant X39 XM_017002899.2:c.3394= XM_017002899.2:c.3394G>A
PDE4DIP transcript variant X38 XM_011510176.2:c.3607= XM_011510176.2:c.3607G>A
PDE4DIP transcript variant X41 XM_017002901.2:c.3685= XM_017002901.2:c.3685G>A
PDE4DIP transcript variant X40 XM_017002900.2:c.3685= XM_017002900.2:c.3685G>A
PDE4DIP transcript variant X10 XR_001737551.2:n.4092= XR_001737551.2:n.4092G>A
PDE4DIP transcript variant X34 XM_017002895.2:c.3010= XM_017002895.2:c.3010G>A
PDE4DIP transcript variant X42 XM_017002903.2:c.3394= XM_017002903.2:c.3394G>A
PDE4DIP transcript variant X26 XM_017002887.1:c.3100= XM_017002887.1:c.3100G>A
PDE4DIP transcript variant X27 XM_017002888.1:c.3100= XM_017002888.1:c.3100G>A
PDE4DIP transcript variant X32 XM_017002893.1:c.3010= XM_017002893.1:c.3010G>A
PDE4DIP transcript variant X23 XM_024451067.1:c.3607= XM_024451067.1:c.3607G>A
PDE4DIP transcript variant X43 XM_011510179.1:c.3196= XM_011510179.1:c.3196G>A
PDE4DIP transcript variant X20 XM_006711651.1:c.3196= XM_006711651.1:c.3196G>A
PDE4DIP transcript variant X22 XM_006711652.1:c.3196= XM_006711652.1:c.3196G>A
PDE4DIP transcript variant X37 XM_024451068.1:c.3607= XM_024451068.1:c.3607G>A
myomegalin isoform 1 NP_055459.5:p.Ala1066= NP_055459.5:p.Ala1066Thr
myomegalin isoform 9 NP_001185763.3:p.Ala1066= NP_001185763.3:p.Ala106...

NP_001185763.3:p.Ala1066Thr

myomegalin isoform 11 NP_001337450.1:p.Ala1203= NP_001337450.1:p.Ala120...

NP_001337450.1:p.Ala1203Thr

myomegalin isoform 8 NP_001185761.2:p.Ala1132= NP_001185761.2:p.Ala113...

NP_001185761.2:p.Ala1132Thr

myomegalin isoform 10 NP_001337449.1:p.Ala1229= NP_001337449.1:p.Ala122...

NP_001337449.1:p.Ala1229Thr

myomegalin isoform 12 NP_001337451.1:p.Ala1132= NP_001337451.1:p.Ala113...

NP_001337451.1:p.Ala1132Thr

myomegalin isoform 13 NP_001337452.1:p.Ala1132= NP_001337452.1:p.Ala113...

NP_001337452.1:p.Ala1132Thr

myomegalin isoform X3 XP_005277499.2:p.Ala1229= XP_005277499.2:p.Ala122...

XP_005277499.2:p.Ala1229Thr

myomegalin isoform X9 XP_005273038.2:p.Ala1229= XP_005273038.2:p.Ala122...

XP_005273038.2:p.Ala1229Thr

myomegalin isoform X18 XP_006711713.1:p.Ala1069= XP_006711713.1:p.Ala106...

XP_006711713.1:p.Ala1069Thr

myomegalin isoform X1 XP_006711705.1:p.Ala1229= XP_006711705.1:p.Ala122...

XP_006711705.1:p.Ala1229Thr

myomegalin isoform X2 XP_006711706.1:p.Ala1229= XP_006711706.1:p.Ala122...

XP_006711706.1:p.Ala1229Thr

myomegalin isoform X13 XP_006711711.1:p.Ala1229= XP_006711711.1:p.Ala122...

XP_006711711.1:p.Ala1229Thr

myomegalin isoform X11 XP_016858367.1:p.Ala1203= XP_016858367.1:p.Ala120...

XP_016858367.1:p.Ala1203Thr

myomegalin isoform X12 XP_011508477.1:p.Ala1203= XP_011508477.1:p.Ala120...

XP_011508477.1:p.Ala1203Thr

myomegalin isoform X4 XP_011508474.1:p.Ala1203= XP_011508474.1:p.Ala120...

XP_011508474.1:p.Ala1203Thr

myomegalin isoform X5 XP_011508475.1:p.Ala1203= XP_011508475.1:p.Ala120...

XP_011508475.1:p.Ala1203Thr

myomegalin isoform X15 XP_016858370.1:p.Ala1229= XP_016858370.1:p.Ala122...

XP_016858370.1:p.Ala1229Thr

myomegalin isoform X16 XP_016858371.1:p.Ala1229= XP_016858371.1:p.Ala122...

XP_016858371.1:p.Ala1229Thr

myomegalin isoform X8 XP_011508476.1:p.Ala1229= XP_011508476.1:p.Ala122...

XP_011508476.1:p.Ala1229Thr

myomegalin isoform X20 XP_016858373.1:p.Ala1229= XP_016858373.1:p.Ala122...

XP_016858373.1:p.Ala1229Thr

myomegalin isoform X14 XP_016858368.1:p.Ala1229= XP_016858368.1:p.Ala122...

XP_016858368.1:p.Ala1229Thr

myomegalin isoform X25 XP_016858378.1:p.Ala1034= XP_016858378.1:p.Ala103...

XP_016858378.1:p.Ala1034Thr

myomegalin isoform X17 XP_016858372.1:p.Ala1229= XP_016858372.1:p.Ala122...

XP_016858372.1:p.Ala1229Thr

myomegalin isoform X27 XP_016858383.1:p.Ala1004= XP_016858383.1:p.Ala100...

XP_016858383.1:p.Ala1004Thr

myomegalin isoform X23 XP_016858374.1:p.Ala1229= XP_016858374.1:p.Ala122...

XP_016858374.1:p.Ala1229Thr

myomegalin isoform X24 XP_016858375.1:p.Ala1229= XP_016858375.1:p.Ala122...

XP_016858375.1:p.Ala1229Thr

myomegalin isoform X10 XP_006711709.1:p.Ala1132= XP_006711709.1:p.Ala113...

XP_006711709.1:p.Ala1132Thr

myomegalin isoform X28 XP_016858385.1:p.Ala1229= XP_016858385.1:p.Ala122...

XP_016858385.1:p.Ala1229Thr

myomegalin isoform X27 XP_016858380.1:p.Ala1004= XP_016858380.1:p.Ala100...

XP_016858380.1:p.Ala1004Thr

myomegalin isoform X29 XP_016858386.1:p.Ala1229= XP_016858386.1:p.Ala122...

XP_016858386.1:p.Ala1229Thr

myomegalin isoform X27 XP_016858381.1:p.Ala1004= XP_016858381.1:p.Ala100...

XP_016858381.1:p.Ala1004Thr

myomegalin isoform X26 XP_016858379.1:p.Ala1229= XP_016858379.1:p.Ala122...

XP_016858379.1:p.Ala1229Thr

myomegalin isoform X7 XP_016858365.1:p.Ala1229= XP_016858365.1:p.Ala122...

XP_016858365.1:p.Ala1229Thr

myomegalin isoform X6 XP_016858364.1:p.Ala1229= XP_016858364.1:p.Ala122...

XP_016858364.1:p.Ala1229Thr

myomegalin isoform X32 XP_016858388.1:p.Ala1132= XP_016858388.1:p.Ala113...

XP_016858388.1:p.Ala1132Thr

myomegalin isoform X31 XP_011508478.1:p.Ala1203= XP_011508478.1:p.Ala120...

XP_011508478.1:p.Ala1203Thr

myomegalin isoform X34 XP_016858390.1:p.Ala1229= XP_016858390.1:p.Ala122...

XP_016858390.1:p.Ala1229Thr

myomegalin isoform X33 XP_016858389.1:p.Ala1229= XP_016858389.1:p.Ala122...

XP_016858389.1:p.Ala1229Thr

myomegalin isoform X27 XP_016858384.1:p.Ala1004= XP_016858384.1:p.Ala100...

XP_016858384.1:p.Ala1004Thr

myomegalin isoform X35 XP_016858392.1:p.Ala1132= XP_016858392.1:p.Ala113...

XP_016858392.1:p.Ala1132Thr

myomegalin isoform X25 XP_016858376.1:p.Ala1034= XP_016858376.1:p.Ala103...

XP_016858376.1:p.Ala1034Thr

myomegalin isoform X25 XP_016858377.1:p.Ala1034= XP_016858377.1:p.Ala103...

XP_016858377.1:p.Ala1034Thr

myomegalin isoform X27 XP_016858382.1:p.Ala1004= XP_016858382.1:p.Ala100...

XP_016858382.1:p.Ala1004Thr

myomegalin isoform X22 XP_024306835.1:p.Ala1203= XP_024306835.1:p.Ala120...

XP_024306835.1:p.Ala1203Thr

myomegalin isoform X36 XP_011508481.1:p.Ala1066= XP_011508481.1:p.Ala106...

XP_011508481.1:p.Ala1066Thr

myomegalin isoform X19 XP_006711714.1:p.Ala1066= XP_006711714.1:p.Ala106...

XP_006711714.1:p.Ala1066Thr

myomegalin isoform X21 XP_006711715.1:p.Ala1066= XP_006711715.1:p.Ala106...

XP_006711715.1:p.Ala1066Thr

myomegalin isoform X30 XP_024306836.1:p.Ala1203= XP_024306836.1:p.Ala120...

XP_024306836.1:p.Ala1203Thr

myomegalin isoform X1 XP_005273038.1:p.Ala1229= XP_005273038.1:p.Ala122...

XP_005273038.1:p.Ala1229Thr

myomegalin isoform X5 XP_005277499.1:p.Ala1229= XP_005277499.1:p.Ala122...

XP_005277499.1:p.Ala1229Thr

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#.

44 SubSNP, 1 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss2531457 Nov 09, 2000 (89)
2 WI_SSAHASNP ss6398653 Feb 20, 2003 (111)
3 SC_SNP ss12995457 Dec 05, 2003 (119)
4 BCMHGSC_JDW ss87789942 Mar 23, 2008 (130)
5 HUMANGENOME_JCVI ss99246248 Feb 04, 2009 (130)
6 BGI ss102780942 Dec 01, 2009 (131)
7 ENSEMBL ss131682098 Dec 01, 2009 (131)
8 GMI ss155673623 Dec 01, 2009 (131)
9 COMPLETE_GENOMICS ss164019119 Jul 04, 2010 (132)
10 COMPLETE_GENOMICS ss165139523 Jul 04, 2010 (132)
11 COMPLETE_GENOMICS ss167075068 Jul 04, 2010 (132)
12 BUSHMAN ss199024596 Jul 04, 2010 (132)
13 BCM-HGSC-SUB ss205072376 Jul 04, 2010 (132)
14 BL ss253460819 May 09, 2011 (134)
15 GMI ss276025213 May 04, 2012 (137)
16 GMI ss284140833 Apr 25, 2013 (138)
17 PJP ss290619164 May 09, 2011 (134)
18 1000GENOMES ss488679570 May 04, 2012 (137)
19 JMKIDD_LAB ss1067425067 Apr 09, 2015 (144)
20 DDI ss1425961484 Apr 09, 2015 (144)
21 EVA_EXAC ss1685727600 Apr 09, 2015 (144)
22 EVA_MGP ss1710920216 Apr 09, 2015 (144)
23 HAMMER_LAB ss1795024034 Sep 11, 2015 (146)
24 YSAMUELS ss1849888624 Feb 17, 2016 (147)
25 YSAMUELS ss1849888625 Feb 17, 2016 (147)
26 WEILL_CORNELL_DGM ss1918854859 Feb 17, 2016 (147)
27 ILLUMINA ss1958309950 Feb 17, 2016 (147)
28 USC_VALOUEV ss2147969652 Oct 11, 2018 (152)
29 SYSTEMSBIOZJU ss2624481395 Oct 11, 2018 (152)
30 GRF ss2697928081 Oct 11, 2018 (152)
31 GNOMAD ss2731774718 Oct 11, 2018 (152)
32 GNOMAD ss2746413131 Oct 11, 2018 (152)
33 GNOMAD ss2760547238 Oct 11, 2018 (152)
34 SWEGEN ss2987626517 Oct 11, 2018 (152)
35 ILLUMINA ss3021128522 Oct 11, 2018 (152)
36 EVA_SAMSUNG_MC ss3023057019 Oct 11, 2018 (152)
37 TOPMED ss3091128918 Nov 08, 2017 (151)
38 CSHL ss3343680272 Oct 11, 2018 (152)
39 OMUKHERJEE_ADBS ss3646239712 Oct 11, 2018 (152)
40 ILLUMINA ss3651462030 Oct 11, 2018 (152)
41 EVA ss3746751895 Jul 12, 2019 (153)
42 PACBIO ss3783545707 Jul 12, 2019 (153)
43 PACBIO ss3789183032 Jul 12, 2019 (153)
44 PACBIO ss3794055584 Jul 12, 2019 (153)
45 ExAC NC_000001.10 - 144882823 Oct 11, 2018 (152)
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).

Associated ID History Updated (Build)
rs61807903 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss87789942, ss164019119, ss165139523, ss167075068, ss199024596, ss205072376, ss253460819, ss276025213, ss284140833, ss290619164 NC_000001.9:143594179:C:T NC_000001.11:149001648:G:A (self)
4939654, ss488679570, ss1067425067, ss1425961484, ss1685727600, ss1710920216, ss1795024034, ss1849888624, ss1849888625, ss1918854859, ss1958309950, ss2147969652, ss2624481395, ss2697928081, ss2731774718, ss2746413131, ss2760547238, ss2987626517, ss3021128522, ss3023057019, ss3343680272, ss3646239712, ss3651462030, ss3746751895, ss3783545707, ss3789183032, ss3794055584 NC_000001.10:144882822:C:T NC_000001.11:149001648:G:A (self)
ss3091128918 NC_000001.11:149001648:G:A NC_000001.11:149001648:G:A (self)
ss12995457 NT_004434.15:72098:C:T NC_000001.11:149001648:G:A (self)
ss2531457, ss6398653, ss99246248, ss102780942, ss131682098, ss155673623 NT_167185.1:210409:C:T NC_000001.11:149001648:G:A (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 rs1698647

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.post308+0fe9b3b