SNP Links for Protein (Select 148612833) - SNP

Links from Protein

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Select item 14899818411.

rs1489981841 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:66475862 (GRCh38)
11:66243333 (GRCh37)
Canonical SPDI:: NC_000011.10:66475861:C:T
Gene:: PELI3 (Varview), DPP3-DT (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.66475862C>T, NC_000011.9:g.66243333C>T, NG_032068.1:g.454C>T, NG_029627.1:g.14536C>T, NM_145065.3:c.1105C>T, NM_145065.2:c.1105C>T, NM_001098510.2:c.1033C>T, NM_001098510.1:c.1033C>T, NM_001243135.2:c.916C>T, NM_001243135.1:c.916C>T, NM_001243136.2:c.784C>T, NM_001243136.1:c.784C>T, XM_011544884.3:c.1105C>T, XM_011544884.2:c.1105C>T, XM_011544884.1:c.1105C>T, XM_047426703.1:c.1033C>T, NP_659502.2:p.His369Tyr, NP_001091980.1:p.His345Tyr, NP_001230064.1:p.His306Tyr, NP_001230065.1:p.His262Tyr, XP_011543186.1:p.His369Tyr, XP_047282659.1:p.His345Tyr

Select item 14877692212.

rs1487769221 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:66473878 (GRCh38)
11:66241349 (GRCh37)
Canonical SPDI:: NC_000011.10:66473877:G:A
Gene:: PELI3 (Varview), DPP3-DT (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.66473878G>A, NC_000011.9:g.66241349G>A, NG_029627.1:g.12552G>A, NM_145065.3:c.793G>A, NM_145065.2:c.793G>A, NM_001098510.2:c.721G>A, NM_001098510.1:c.721G>A, NM_001243135.2:c.604G>A, NM_001243135.1:c.604G>A, NM_001243136.2:c.472G>A, NM_001243136.1:c.472G>A, XM_011544884.3:c.793G>A, XM_011544884.2:c.793G>A, XM_011544884.1:c.793G>A, XM_047426703.1:c.721G>A, NP_659502.2:p.Val265Met, NP_001091980.1:p.Val241Met, NP_001230064.1:p.Val202Met, NP_001230065.1:p.Val158Met, XP_011543186.1:p.Val265Met, XP_047282659.1:p.Val241Met

Select item 14859143103.

rs1485914310 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:66468187 (GRCh38)
11:66235658 (GRCh37)
Canonical SPDI:: NC_000011.10:66468186:G:A
Gene:: PELI3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.66468187G>A, NC_000011.9:g.66235658G>A, NG_029627.1:g.6861G>A, NM_145065.3:c.59G>A, NM_145065.2:c.59G>A, NM_001098510.2:c.59G>A, NM_001098510.1:c.59G>A, NM_001243135.2:c.59G>A, NM_001243135.1:c.59G>A, XM_011544884.3:c.59G>A, XM_011544884.2:c.59G>A, XM_011544884.1:c.59G>A, XM_047426703.1:c.59G>A, NP_659502.2:p.Arg20Gln, NP_001091980.1:p.Arg20Gln, NP_001230064.1:p.Arg20Gln, XP_011543186.1:p.Arg20Gln, XP_047282659.1:p.Arg20Gln

Select item 14854756354.

rs1485475635 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:66475641 (GRCh38)
11:66243112 (GRCh37)
Canonical SPDI:: NC_000011.10:66475640:A:G
Gene:: PELI3 (Varview), DPP3-DT (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.66475641A>G, NC_000011.9:g.66243112A>G, NG_032068.1:g.233A>G, NG_029627.1:g.14315A>G, NM_145065.3:c.884A>G, NM_145065.2:c.884A>G, NM_001098510.2:c.812A>G, NM_001098510.1:c.812A>G, NM_001243135.2:c.695A>G, NM_001243135.1:c.695A>G, NM_001243136.2:c.563A>G, NM_001243136.1:c.563A>G, XM_011544884.3:c.884A>G, XM_011544884.2:c.884A>G, XM_011544884.1:c.884A>G, XM_047426703.1:c.812A>G, NP_659502.2:p.Asp295Gly, NP_001091980.1:p.Asp271Gly, NP_001230064.1:p.Asp232Gly, NP_001230065.1:p.Asp188Gly, XP_011543186.1:p.Asp295Gly, XP_047282659.1:p.Asp271Gly

Select item 14797098345.

rs1479709834 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:66475809 (GRCh38)
11:66243280 (GRCh37)
Canonical SPDI:: NC_000011.10:66475808:C:T
Gene:: PELI3 (Varview), DPP3-DT (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.0005/8 (TOMMO)
HGVS:: NC_000011.10:g.66475809C>T, NC_000011.9:g.66243280C>T, NG_032068.1:g.401C>T, NG_029627.1:g.14483C>T, NM_145065.3:c.1052C>T, NM_145065.2:c.1052C>T, NM_001098510.2:c.980C>T, NM_001098510.1:c.980C>T, NM_001243135.2:c.863C>T, NM_001243135.1:c.863C>T, NM_001243136.2:c.731C>T, NM_001243136.1:c.731C>T, XM_011544884.3:c.1052C>T, XM_011544884.2:c.1052C>T, XM_011544884.1:c.1052C>T, XM_047426703.1:c.980C>T, NP_659502.2:p.Pro351Leu, NP_001091980.1:p.Pro327Leu, NP_001230064.1:p.Pro288Leu, NP_001230065.1:p.Pro244Leu, XP_011543186.1:p.Pro351Leu, XP_047282659.1:p.Pro327Leu

Select item 14780111346.

rs1478011134 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:66472459 (GRCh38)
11:66239930 (GRCh37)
Canonical SPDI:: NC_000011.10:66472458:G:C
Gene:: PELI3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.66472459G>C, NC_000011.9:g.66239930G>C, NG_029627.1:g.11133G>C, NM_145065.3:c.445G>C, NM_145065.2:c.445G>C, NM_001098510.2:c.373G>C, NM_001098510.1:c.373G>C, NM_001243135.2:c.256G>C, NM_001243135.1:c.256G>C, NM_001243136.2:c.124G>C, NM_001243136.1:c.124G>C, XM_011544884.3:c.445G>C, XM_011544884.2:c.445G>C, XM_011544884.1:c.445G>C, XM_047426703.1:c.373G>C, NP_659502.2:p.Asp149His, NP_001091980.1:p.Asp125His, NP_001230064.1:p.Asp86His, NP_001230065.1:p.Asp42His, XP_011543186.1:p.Asp149His, XP_047282659.1:p.Asp125His

Select item 14773641137.

rs1477364113 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:66468197 (GRCh38)
11:66235668 (GRCh37)
Canonical SPDI:: NC_000011.10:66468196:G:C
Gene:: PELI3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.66468197G>C, NC_000011.9:g.66235668G>C, NG_029627.1:g.6871G>C, NM_145065.3:c.69G>C, NM_145065.2:c.69G>C, NM_001098510.2:c.69G>C, NM_001098510.1:c.69G>C, NM_001243135.2:c.69G>C, NM_001243135.1:c.69G>C, XM_011544884.3:c.69G>C, XM_011544884.2:c.69G>C, XM_011544884.1:c.69G>C, XM_047426703.1:c.69G>C, NP_659502.2:p.Lys23Asn, NP_001091980.1:p.Lys23Asn, NP_001230064.1:p.Lys23Asn, XP_011543186.1:p.Lys23Asn, XP_047282659.1:p.Lys23Asn

Select item 14766912088.

rs1476691208 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:66475869 (GRCh38)
11:66243340 (GRCh37)
Canonical SPDI:: NC_000011.10:66475868:G:A
Gene:: PELI3 (Varview), DPP3-DT (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,stop_gained
HGVS:: NC_000011.10:g.66475869G>A, NC_000011.9:g.66243340G>A, NG_032068.1:g.461G>A, NG_029627.1:g.14543G>A, NM_145065.3:c.1112G>A, NM_145065.2:c.1112G>A, NM_001098510.2:c.1040G>A, NM_001098510.1:c.1040G>A, NM_001243135.2:c.923G>A, NM_001243135.1:c.923G>A, NM_001243136.2:c.791G>A, NM_001243136.1:c.791G>A, XM_011544884.3:c.1112G>A, XM_011544884.2:c.1112G>A, XM_011544884.1:c.1112G>A, XM_047426703.1:c.1040G>A, NP_659502.2:p.Trp371Ter, NP_001091980.1:p.Trp347Ter, NP_001230064.1:p.Trp308Ter, NP_001230065.1:p.Trp264Ter, XP_011543186.1:p.Trp371Ter, XP_047282659.1:p.Trp347Ter

Select item 14697765339.

rs1469776533 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:66473384 (GRCh38)
11:66240855 (GRCh37)
Canonical SPDI:: NC_000011.10:66473383:T:C
Gene:: PELI3 (Varview), DPP3-DT (Varview)
Functional Consequence:: 500B_downstream_variant,synonymous_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.66473384T>C, NC_000011.9:g.66240855T>C, NG_029627.1:g.12058T>C, NM_145065.3:c.600T>C, NM_145065.2:c.600T>C, NM_001098510.2:c.528T>C, NM_001098510.1:c.528T>C, NM_001243135.2:c.411T>C, NM_001243135.1:c.411T>C, NM_001243136.2:c.279T>C, NM_001243136.1:c.279T>C, XM_011544884.3:c.600T>C, XM_011544884.2:c.600T>C, XM_011544884.1:c.600T>C, XM_047426703.1:c.528T>C

Select item 146960086110.

rs1469600861 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:66468176 (GRCh38)
11:66235647 (GRCh37)
Canonical SPDI:: NC_000011.10:66468175:C:A
Gene:: PELI3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.66468176C>A, NC_000011.9:g.66235647C>A, NG_029627.1:g.6850C>A, NM_145065.3:c.48C>A, NM_145065.2:c.48C>A, NM_001098510.2:c.48C>A, NM_001098510.1:c.48C>A, NM_001243135.2:c.48C>A, NM_001243135.1:c.48C>A, XM_011544884.3:c.48C>A, XM_011544884.2:c.48C>A, XM_011544884.1:c.48C>A, XM_047426703.1:c.48C>A, NP_659502.2:p.Asp16Glu, NP_001091980.1:p.Asp16Glu, NP_001230064.1:p.Asp16Glu, XP_011543186.1:p.Asp16Glu, XP_047282659.1:p.Asp16Glu

Select item 146863275211.

rs1468632752 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:66473389 (GRCh38)
11:66240860 (GRCh37)
Canonical SPDI:: NC_000011.10:66473388:G:A
Gene:: PELI3 (Varview), DPP3-DT (Varview)
Functional Consequence:: 500B_downstream_variant,coding_sequence_variant,downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.00002/5 (GnomAD_exomes)
A=0.000071/1 (TOMMO)
HGVS:: NC_000011.10:g.66473389G>A, NC_000011.9:g.66240860G>A, NG_029627.1:g.12063G>A, NM_145065.3:c.605G>A, NM_145065.2:c.605G>A, NM_001098510.2:c.533G>A, NM_001098510.1:c.533G>A, NM_001243135.2:c.416G>A, NM_001243135.1:c.416G>A, NM_001243136.2:c.284G>A, NM_001243136.1:c.284G>A, XM_011544884.3:c.605G>A, XM_011544884.2:c.605G>A, XM_011544884.1:c.605G>A, XM_047426703.1:c.533G>A, NP_659502.2:p.Arg202His, NP_001091980.1:p.Arg178His, NP_001230064.1:p.Arg139His, NP_001230065.1:p.Arg95His, XP_011543186.1:p.Arg202His, XP_047282659.1:p.Arg178His

Select item 146855468012.

rs1468554680 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:66468230 (GRCh38)
11:66235701 (GRCh37)
Canonical SPDI:: NC_000011.10:66468229:T:C
Gene:: PELI3 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.66468230T>C, NC_000011.9:g.66235701T>C, NG_029627.1:g.6904T>C, NM_145065.3:c.102T>C, NM_145065.2:c.102T>C, NM_001098510.2:c.102T>C, NM_001098510.1:c.102T>C, NM_001243135.2:c.102T>C, NM_001243135.1:c.102T>C, XM_011544884.3:c.102T>C, XM_011544884.2:c.102T>C, XM_011544884.1:c.102T>C, XM_047426703.1:c.102T>C

Select item 146846243813.

rs1468462438 [Homo sapiens]

Variant type:: DEL
Alleles:: GAG>- [Show Flanks]
Chromosome:: 11:66476027 (GRCh38)
11:66243498 (GRCh37)
Canonical SPDI:: NC_000011.10:66476026:GAG:
Gene:: PELI3 (Varview), DPP3-DT (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,inframe_deletion
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.66476027_66476029del, NC_000011.9:g.66243498_66243500del, NG_032068.1:g.619_621del, NG_029627.1:g.14701_14703del, NM_145065.3:c.1270_1272del, NM_145065.2:c.1270_1272del, NM_001098510.2:c.1198_1200del, NM_001098510.1:c.1198_1200del, NM_001243135.2:c.1081_1083del, NM_001243135.1:c.1081_1083del, NM_001243136.2:c.949_951del, NM_001243136.1:c.949_951del, XM_011544884.3:c.1270_1272del, XM_011544884.2:c.1270_1272del, XM_011544884.1:c.1270_1272del, XM_047426703.1:c.1198_1200del, NP_659502.2:p.Glu424del, NP_001091980.1:p.Glu400del, NP_001230064.1:p.Glu361del, NP_001230065.1:p.Glu317del, XP_011543186.1:p.Glu424del, XP_047282659.1:p.Glu400del

Select item 146767211114.

rs1467672111 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:66473395 (GRCh38)
11:66240866 (GRCh37)
Canonical SPDI:: NC_000011.10:66473394:A:G
Gene:: PELI3 (Varview), DPP3-DT (Varview)
Functional Consequence:: 500B_downstream_variant,coding_sequence_variant,downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.66473395A>G, NC_000011.9:g.66240866A>G, NG_029627.1:g.12069A>G, NM_145065.3:c.611A>G, NM_145065.2:c.611A>G, NM_001098510.2:c.539A>G, NM_001098510.1:c.539A>G, NM_001243135.2:c.422A>G, NM_001243135.1:c.422A>G, NM_001243136.2:c.290A>G, NM_001243136.1:c.290A>G, XM_011544884.3:c.611A>G, XM_011544884.2:c.611A>G, XM_011544884.1:c.611A>G, XM_047426703.1:c.539A>G, NP_659502.2:p.Tyr204Cys, NP_001091980.1:p.Tyr180Cys, NP_001230064.1:p.Tyr141Cys, NP_001230065.1:p.Tyr97Cys, XP_011543186.1:p.Tyr204Cys, XP_047282659.1:p.Tyr180Cys

Select item 146135073515.

rs1461350735 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:66476007 (GRCh38)
11:66243478 (GRCh37)
Canonical SPDI:: NC_000011.10:66476006:C:T
Gene:: PELI3 (Varview), DPP3-DT (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000011.10:g.66476007C>T, NC_000011.9:g.66243478C>T, NG_032068.1:g.599C>T, NG_029627.1:g.14681C>T, NM_145065.3:c.1250C>T, NM_145065.2:c.1250C>T, NM_001098510.2:c.1178C>T, NM_001098510.1:c.1178C>T, NM_001243135.2:c.1061C>T, NM_001243135.1:c.1061C>T, NM_001243136.2:c.929C>T, NM_001243136.1:c.929C>T, XM_011544884.3:c.1250C>T, XM_011544884.2:c.1250C>T, XM_011544884.1:c.1250C>T, XM_047426703.1:c.1178C>T, NP_659502.2:p.Pro417Leu, NP_001091980.1:p.Pro393Leu, NP_001230064.1:p.Pro354Leu, NP_001230065.1:p.Pro310Leu, XP_011543186.1:p.Pro417Leu, XP_047282659.1:p.Pro393Leu

Select item 146122739116.

rs1461227391 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:66471369 (GRCh38)
11:66238840 (GRCh37)
Canonical SPDI:: NC_000011.10:66471368:A:G
Gene:: PELI3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.66471369A>G, NC_000011.9:g.66238840A>G, NG_029627.1:g.10043A>G, NM_145065.3:c.352A>G, NM_145065.2:c.352A>G, NM_001098510.2:c.280A>G, NM_001098510.1:c.280A>G, NM_001243135.2:c.163A>G, NM_001243135.1:c.163A>G, NM_001243136.2:c.31A>G, NM_001243136.1:c.31A>G, XM_011544884.3:c.352A>G, XM_011544884.2:c.352A>G, XM_011544884.1:c.352A>G, XM_047426703.1:c.280A>G, NP_659502.2:p.Lys118Glu, NP_001091980.1:p.Lys94Glu, NP_001230064.1:p.Lys55Glu, NP_001230065.1:p.Lys11Glu, XP_011543186.1:p.Lys118Glu, XP_047282659.1:p.Lys94Glu

Select item 146055491317.

rs1460554913 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:66476087 (GRCh38)
11:66243558 (GRCh37)
Canonical SPDI:: NC_000011.10:66476086:G:A
Gene:: PELI3 (Varview), DPP3-DT (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.66476087G>A, NC_000011.9:g.66243558G>A, NG_032068.1:g.679G>A, NG_029627.1:g.14761G>A, NM_145065.3:c.1330G>A, NM_145065.2:c.1330G>A, NM_001098510.2:c.1258G>A, NM_001098510.1:c.1258G>A, NM_001243135.2:c.1141G>A, NM_001243135.1:c.1141G>A, NM_001243136.2:c.1009G>A, NM_001243136.1:c.1009G>A, XM_011544884.3:c.1330G>A, XM_011544884.2:c.1330G>A, XM_011544884.1:c.1330G>A, XM_047426703.1:c.1258G>A, NP_659502.2:p.Ala444Thr, NP_001091980.1:p.Ala420Thr, NP_001230064.1:p.Ala381Thr, NP_001230065.1:p.Ala337Thr, XP_011543186.1:p.Ala444Thr, XP_047282659.1:p.Ala420Thr

Select item 145618036118.

rs1456180361 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:66473362 (GRCh38)
11:66240833 (GRCh37)
Canonical SPDI:: NC_000011.10:66473361:G:A,NC_000011.10:66473361:G:C
Gene:: PELI3 (Varview), DPP3-DT (Varview)
Functional Consequence:: 500B_downstream_variant,coding_sequence_variant,downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.66473362G>A, NC_000011.10:g.66473362G>C, NC_000011.9:g.66240833G>A, NC_000011.9:g.66240833G>C, NG_029627.1:g.12036G>A, NG_029627.1:g.12036G>C, NM_145065.3:c.578G>A, NM_145065.3:c.578G>C, NM_145065.2:c.578G>A, NM_145065.2:c.578G>C, NM_001098510.2:c.506G>A, NM_001098510.2:c.506G>C, NM_001098510.1:c.506G>A, NM_001098510.1:c.506G>C, NM_001243135.2:c.389G>A, NM_001243135.2:c.389G>C, NM_001243135.1:c.389G>A, NM_001243135.1:c.389G>C, NM_001243136.2:c.257G>A, NM_001243136.2:c.257G>C, NM_001243136.1:c.257G>A, NM_001243136.1:c.257G>C, XM_011544884.3:c.578G>A, XM_011544884.3:c.578G>C, XM_011544884.2:c.578G>A, XM_011544884.2:c.578G>C, XM_011544884.1:c.578G>A, XM_011544884.1:c.578G>C, XM_047426703.1:c.506G>A, XM_047426703.1:c.506G>C, NP_659502.2:p.Cys193Tyr, NP_659502.2:p.Cys193Ser, NP_001091980.1:p.Cys169Tyr, NP_001091980.1:p.Cys169Ser, NP_001230064.1:p.Cys130Tyr, NP_001230064.1:p.Cys130Ser, NP_001230065.1:p.Cys86Tyr, NP_001230065.1:p.Cys86Ser, XP_011543186.1:p.Cys193Tyr, XP_011543186.1:p.Cys193Ser, XP_047282659.1:p.Cys169Tyr, XP_047282659.1:p.Cys169Ser

Select item 145361210119.

rs1453612101 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:66475976 (GRCh38)
11:66243447 (GRCh37)
Canonical SPDI:: NC_000011.10:66475975:G:A
Gene:: PELI3 (Varview), DPP3-DT (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.66475976G>A, NC_000011.9:g.66243447G>A, NG_032068.1:g.568G>A, NG_029627.1:g.14650G>A, NM_145065.3:c.1219G>A, NM_145065.2:c.1219G>A, NM_001098510.2:c.1147G>A, NM_001098510.1:c.1147G>A, NM_001243135.2:c.1030G>A, NM_001243135.1:c.1030G>A, NM_001243136.2:c.898G>A, NM_001243136.1:c.898G>A, XM_011544884.3:c.1219G>A, XM_011544884.2:c.1219G>A, XM_011544884.1:c.1219G>A, XM_047426703.1:c.1147G>A, NP_659502.2:p.Asp407Asn, NP_001091980.1:p.Asp383Asn, NP_001230064.1:p.Asp344Asn, NP_001230065.1:p.Asp300Asn, XP_011543186.1:p.Asp407Asn, XP_047282659.1:p.Asp383Asn

Select item 145131964420.

rs1451319644 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:66473854 (GRCh38)
11:66241325 (GRCh37)
Canonical SPDI:: NC_000011.10:66473853:C:A,NC_000011.10:66473853:C:T
Gene:: PELI3 (Varview), DPP3-DT (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.66473854C>A, NC_000011.10:g.66473854C>T, NC_000011.9:g.66241325C>A, NC_000011.9:g.66241325C>T, NG_029627.1:g.12528C>A, NG_029627.1:g.12528C>T, NM_145065.3:c.769C>A, NM_145065.3:c.769C>T, NM_145065.2:c.769C>A, NM_145065.2:c.769C>T, NM_001098510.2:c.697C>A, NM_001098510.2:c.697C>T, NM_001098510.1:c.697C>A, NM_001098510.1:c.697C>T, NM_001243135.2:c.580C>A, NM_001243135.2:c.580C>T, NM_001243135.1:c.580C>A, NM_001243135.1:c.580C>T, NM_001243136.2:c.448C>A, NM_001243136.2:c.448C>T, NM_001243136.1:c.448C>A, NM_001243136.1:c.448C>T, XM_011544884.3:c.769C>A, XM_011544884.3:c.769C>T, XM_011544884.2:c.769C>A, XM_011544884.2:c.769C>T, XM_011544884.1:c.769C>A, XM_011544884.1:c.769C>T, XM_047426703.1:c.697C>A, XM_047426703.1:c.697C>T, NR_120586.1:n.482G>T, NR_120586.1:n.482G>A, NP_659502.2:p.Arg257Trp, NP_001091980.1:p.Arg233Trp, NP_001230064.1:p.Arg194Trp, NP_001230065.1:p.Arg150Trp, XP_011543186.1:p.Arg257Trp, XP_047282659.1:p.Arg233Trp

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