SNP Links for Protein (Select 548923955) - SNP

Links from Protein

Items: 1 to 20 of 269

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Select item 14880687821.

rs1488068782 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:73572508 (GRCh38)
5:72868333 (GRCh37)
Canonical SPDI:: NC_000005.10:73572507:C:T
Gene:: UTP15 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.73572508C>T, NC_000005.9:g.72868333C>T, NM_032175.4:c.693C>T, NM_032175.3:c.693C>T, NM_032175.2:c.693C>T, XM_011543680.3:c.693C>T, XM_011543680.2:c.693C>T, XM_011543680.1:c.693C>T, NM_001284430.1:c.636C>T, NM_001284431.1:c.123C>T

Select item 14866377682.

rs1486637768 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:73572553 (GRCh38)
5:72868378 (GRCh37)
Canonical SPDI:: NC_000005.10:73572552:T:C
Gene:: UTP15 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.73572553T>C, NC_000005.9:g.72868378T>C, NM_032175.4:c.738T>C, NM_032175.3:c.738T>C, NM_032175.2:c.738T>C, XM_011543680.3:c.738T>C, XM_011543680.2:c.738T>C, XM_011543680.1:c.738T>C, NM_001284430.1:c.681T>C, NM_001284431.1:c.168T>C

Select item 14863428683.

rs1486342868 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:73572616 (GRCh38)
5:72868441 (GRCh37)
Canonical SPDI:: NC_000005.10:73572615:A:G
Gene:: UTP15 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.73572616A>G, NC_000005.9:g.72868441A>G, NM_032175.4:c.801A>G, NM_032175.3:c.801A>G, NM_032175.2:c.801A>G, XM_011543680.3:c.801A>G, XM_011543680.2:c.801A>G, XM_011543680.1:c.801A>G, NM_001284430.1:c.744A>G, NM_001284431.1:c.231A>G

Select item 14844913344.

rs1484491334 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:73579958 (GRCh38)
5:72875783 (GRCh37)
Canonical SPDI:: NC_000005.10:73579957:T:C
Gene:: UTP15 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.73579958T>C, NC_000005.9:g.72875783T>C, NM_032175.4:c.1421T>C, NM_032175.3:c.1421T>C, NM_032175.2:c.1421T>C, XM_011543680.3:c.1421T>C, XM_011543680.2:c.1421T>C, XM_011543680.1:c.1421T>C, NM_001284430.1:c.1364T>C, NM_001284431.1:c.851T>C, NP_115551.2:p.Ile474Thr, XP_011541982.1:p.Ile474Thr, NP_001271359.1:p.Ile455Thr, NP_001271360.1:p.Ile284Thr

Select item 14799403735.

rs1479940373 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:73577948 (GRCh38)
5:72873773 (GRCh37)
Canonical SPDI:: NC_000005.10:73577947:A:G
Gene:: UTP15 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.73577948A>G, NC_000005.9:g.72873773A>G, NM_032175.4:c.987A>G, NM_032175.3:c.987A>G, NM_032175.2:c.987A>G, XM_011543680.3:c.987A>G, XM_011543680.2:c.987A>G, XM_011543680.1:c.987A>G, NM_001284430.1:c.930A>G, NM_001284431.1:c.417A>G

Select item 14751638556.

rs1475163855 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:73577036 (GRCh38)
5:72872861 (GRCh37)
Canonical SPDI:: NC_000005.10:73577035:A:G
Gene:: UTP15 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.73577036A>G, NC_000005.9:g.72872861A>G, NM_032175.4:c.894A>G, NM_032175.3:c.894A>G, NM_032175.2:c.894A>G, XM_011543680.3:c.894A>G, XM_011543680.2:c.894A>G, XM_011543680.1:c.894A>G, NM_001284430.1:c.837A>G, NM_001284431.1:c.324A>G

Select item 14748751477.

rs1474875147 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:73570672 (GRCh38)
5:72866497 (GRCh37)
Canonical SPDI:: NC_000005.10:73570671:G:A
Gene:: UTP15 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.73570672G>A, NC_000005.9:g.72866497G>A, NM_032175.4:c.634G>A, NM_032175.3:c.634G>A, NM_032175.2:c.634G>A, XM_011543680.3:c.634G>A, XM_011543680.2:c.634G>A, XM_011543680.1:c.634G>A, NM_001284430.1:c.577G>A, NM_001284431.1:c.64G>A, NP_115551.2:p.Val212Ile, XP_011541982.1:p.Val212Ile, NP_001271359.1:p.Val193Ile, NP_001271360.1:p.Val22Ile

Select item 14747613308.

rs1474761330 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:73578786 (GRCh38)
5:72874611 (GRCh37)
Canonical SPDI:: NC_000005.10:73578785:C:T
Gene:: UTP15 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.73578786C>T, NC_000005.9:g.72874611C>T, NM_032175.4:c.1080C>T, NM_032175.3:c.1080C>T, NM_032175.2:c.1080C>T, XM_011543680.3:c.1080C>T, XM_011543680.2:c.1080C>T, XM_011543680.1:c.1080C>T, NM_001284430.1:c.1023C>T, NM_001284431.1:c.510C>T

Select item 14720691959.

rs1472069195 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 5:73578840 (GRCh38)
5:72874665 (GRCh37)
Canonical SPDI:: NC_000005.10:73578839:T:A,NC_000005.10:73578839:T:C
Gene:: UTP15 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000019/5 (TOPMED)
HGVS:: NC_000005.10:g.73578840T>A, NC_000005.10:g.73578840T>C, NC_000005.9:g.72874665T>A, NC_000005.9:g.72874665T>C, NM_032175.4:c.1134T>A, NM_032175.4:c.1134T>C, NM_032175.3:c.1134T>A, NM_032175.3:c.1134T>C, NM_032175.2:c.1134T>A, NM_032175.2:c.1134T>C, XM_011543680.3:c.1134T>A, XM_011543680.3:c.1134T>C, XM_011543680.2:c.1134T>A, XM_011543680.2:c.1134T>C, XM_011543680.1:c.1134T>A, XM_011543680.1:c.1134T>C, NM_001284430.1:c.1077T>A, NM_001284430.1:c.1077T>C, NM_001284431.1:c.564T>A, NM_001284431.1:c.564T>C, NP_115551.2:p.Asp378Glu, XP_011541982.1:p.Asp378Glu, NP_001271359.1:p.Asp359Glu, NP_001271360.1:p.Asp188Glu

Select item 147114218210.

rs1471142182 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:73579940 (GRCh38)
5:72875765 (GRCh37)
Canonical SPDI:: NC_000005.10:73579939:G:C
Gene:: UTP15 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000005.10:g.73579940G>C, NC_000005.9:g.72875765G>C, NM_032175.4:c.1403G>C, NM_032175.3:c.1403G>C, NM_032175.2:c.1403G>C, XM_011543680.3:c.1403G>C, XM_011543680.2:c.1403G>C, XM_011543680.1:c.1403G>C, NM_001284430.1:c.1346G>C, NM_001284431.1:c.833G>C, NP_115551.2:p.Gly468Ala, XP_011541982.1:p.Gly468Ala, NP_001271359.1:p.Gly449Ala, NP_001271360.1:p.Gly278Ala

Select item 146983939111.

rs1469839391 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:73579039 (GRCh38)
5:72874864 (GRCh37)
Canonical SPDI:: NC_000005.10:73579038:C:T
Gene:: UTP15 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.73579039C>T, NC_000005.9:g.72874864C>T, NM_032175.4:c.1169C>T, NM_032175.3:c.1169C>T, NM_032175.2:c.1169C>T, XM_011543680.3:c.1169C>T, XM_011543680.2:c.1169C>T, XM_011543680.1:c.1169C>T, NM_001284430.1:c.1112C>T, NM_001284431.1:c.599C>T, NP_115551.2:p.Pro390Leu, XP_011541982.1:p.Pro390Leu, NP_001271359.1:p.Pro371Leu, NP_001271360.1:p.Pro200Leu

Select item 146915388612.

rs1469153886 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:73570653 (GRCh38)
5:72866478 (GRCh37)
Canonical SPDI:: NC_000005.10:73570652:T:C
Gene:: UTP15 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.73570653T>C, NC_000005.9:g.72866478T>C, NM_032175.4:c.615T>C, NM_032175.3:c.615T>C, NM_032175.2:c.615T>C, XM_011543680.3:c.615T>C, XM_011543680.2:c.615T>C, XM_011543680.1:c.615T>C, NM_001284430.1:c.558T>C, NM_001284431.1:c.45T>C

Select item 146868288013.

rs1468682880 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:73578764 (GRCh38)
5:72874589 (GRCh37)
Canonical SPDI:: NC_000005.10:73578763:T:G
Gene:: UTP15 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.73578764T>G, NC_000005.9:g.72874589T>G, NM_032175.4:c.1058T>G, NM_032175.3:c.1058T>G, NM_032175.2:c.1058T>G, XM_011543680.3:c.1058T>G, XM_011543680.2:c.1058T>G, XM_011543680.1:c.1058T>G, NM_001284430.1:c.1001T>G, NM_001284431.1:c.488T>G, NP_115551.2:p.Ile353Ser, XP_011541982.1:p.Ile353Ser, NP_001271359.1:p.Ile334Ser, NP_001271360.1:p.Ile163Ser

Select item 146496087214.

rs1464960872 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:73580044 (GRCh38)
5:72875869 (GRCh37)
Canonical SPDI:: NC_000005.10:73580043:T:C
Gene:: UTP15 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.73580044T>C, NC_000005.9:g.72875869T>C, NM_032175.4:c.1507T>C, NM_032175.3:c.1507T>C, NM_032175.2:c.1507T>C, XM_011543680.3:c.1507T>C, XM_011543680.2:c.1507T>C, XM_011543680.1:c.1507T>C, NM_001284430.1:c.1450T>C, NM_001284431.1:c.937T>C

Select item 145799511615.

rs1457995116 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:73579103 (GRCh38)
5:72874928 (GRCh37)
Canonical SPDI:: NC_000005.10:73579102:A:T
Gene:: UTP15 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.73579103A>T, NC_000005.9:g.72874928A>T, NM_032175.4:c.1233A>T, NM_032175.3:c.1233A>T, NM_032175.2:c.1233A>T, XM_011543680.3:c.1233A>T, XM_011543680.2:c.1233A>T, XM_011543680.1:c.1233A>T, NM_001284430.1:c.1176A>T, NM_001284431.1:c.663A>T

Select item 145382680116.

rs1453826801 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:73570675 (GRCh38)
5:72866500 (GRCh37)
Canonical SPDI:: NC_000005.10:73570674:C:G
Gene:: UTP15 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.73570675C>G, NC_000005.9:g.72866500C>G, NM_032175.4:c.637C>G, NM_032175.3:c.637C>G, NM_032175.2:c.637C>G, XM_011543680.3:c.637C>G, XM_011543680.2:c.637C>G, XM_011543680.1:c.637C>G, NM_001284430.1:c.580C>G, NM_001284431.1:c.67C>G, NP_115551.2:p.Leu213Val, XP_011541982.1:p.Leu213Val, NP_001271359.1:p.Leu194Val, NP_001271360.1:p.Leu23Val

Select item 145369559717.

rs1453695597 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:73577889 (GRCh38)
5:72873714 (GRCh37)
Canonical SPDI:: NC_000005.10:73577888:A:G
Gene:: UTP15 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.73577889A>G, NC_000005.9:g.72873714A>G, NM_032175.4:c.928A>G, NM_032175.3:c.928A>G, NM_032175.2:c.928A>G, XM_011543680.3:c.928A>G, XM_011543680.2:c.928A>G, XM_011543680.1:c.928A>G, NM_001284430.1:c.871A>G, NM_001284431.1:c.358A>G, NP_115551.2:p.Asn310Asp, XP_011541982.1:p.Asn310Asp, NP_001271359.1:p.Asn291Asp, NP_001271360.1:p.Asn120Asp

Select item 144706285218.

rs1447062852 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:73579057 (GRCh38)
5:72874882 (GRCh37)
Canonical SPDI:: NC_000005.10:73579056:T:A
Gene:: UTP15 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000056/2 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.73579057T>A, NC_000005.9:g.72874882T>A, NM_032175.4:c.1187T>A, NM_032175.3:c.1187T>A, NM_032175.2:c.1187T>A, XM_011543680.3:c.1187T>A, XM_011543680.2:c.1187T>A, XM_011543680.1:c.1187T>A, NM_001284430.1:c.1130T>A, NM_001284431.1:c.617T>A, NP_115551.2:p.Ile396Asn, XP_011541982.1:p.Ile396Asn, NP_001271359.1:p.Ile377Asn, NP_001271360.1:p.Ile206Asn

Select item 143925913519.

rs1439259135 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:73580030 (GRCh38)
5:72875855 (GRCh37)
Canonical SPDI:: NC_000005.10:73580029:A:C
Gene:: UTP15 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.73580030A>C, NC_000005.9:g.72875855A>C, NM_032175.4:c.1493A>C, NM_032175.3:c.1493A>C, NM_032175.2:c.1493A>C, XM_011543680.3:c.1493A>C, XM_011543680.2:c.1493A>C, XM_011543680.1:c.1493A>C, NM_001284430.1:c.1436A>C, NM_001284431.1:c.923A>C, NP_115551.2:p.Glu498Ala, XP_011541982.1:p.Glu498Ala, NP_001271359.1:p.Glu479Ala, NP_001271360.1:p.Glu308Ala

Select item 143681748320.

rs1436817483 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:73577862 (GRCh38)
5:72873687 (GRCh37)
Canonical SPDI:: NC_000005.10:73577861:G:T
Gene:: UTP15 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.73577862G>T, NC_000005.9:g.72873687G>T, NM_032175.4:c.901G>T, NM_032175.3:c.901G>T, NM_032175.2:c.901G>T, XM_011543680.3:c.901G>T, XM_011543680.2:c.901G>T, XM_011543680.1:c.901G>T, NM_001284430.1:c.844G>T, NM_001284431.1:c.331G>T, NP_115551.2:p.Asp301Tyr, XP_011541982.1:p.Asp301Tyr, NP_001271359.1:p.Asp282Tyr, NP_001271360.1:p.Asp111Tyr

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