SNP Links for Protein (Select 4505469) - SNP

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Links from Protein

Items: 1 to 20 of 243

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Select item 14874536051.

rs1487453605 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:5494280 (GRCh38)
12:5603446 (GRCh37)
Canonical SPDI:: NC_000012.12:5494279:T:C
Gene:: NTF3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.5494280T>C, NC_000012.11:g.5603446T>C, NG_050629.1:g.67167T>C, NM_002527.5:c.66T>C, NM_002527.4:c.66T>C, NM_001102654.2:c.105T>C, NM_001102654.1:c.105T>C, XM_011520963.3:c.66T>C, XM_011520963.2:c.66T>C, XM_011520963.1:c.66T>C, XM_047428901.1:c.66T>C

Select item 14866657172.

rs1486665717 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:5494557 (GRCh38)
12:5603723 (GRCh37)
Canonical SPDI:: NC_000012.12:5494556:C:T
Gene:: NTF3 (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_000012.12:g.5494557C>T, NC_000012.11:g.5603723C>T, NG_050629.1:g.67444C>T, NM_002527.5:c.343C>T, NM_002527.4:c.343C>T, NM_001102654.2:c.382C>T, NM_001102654.1:c.382C>T, XM_011520963.3:c.343C>T, XM_011520963.2:c.343C>T, XM_011520963.1:c.343C>T, XM_047428901.1:c.343C>T, NP_002518.1:p.Pro115Ser, NP_001096124.1:p.Pro128Ser, XP_011519265.1:p.Pro115Ser, XP_047284857.1:p.Pro115Ser

Select item 14856604013.

rs1485660401 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:5494460 (GRCh38)
12:5603626 (GRCh37)
Canonical SPDI:: NC_000012.12:5494459:C:T
Gene:: NTF3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.5494460C>T, NC_000012.11:g.5603626C>T, NG_050629.1:g.67347C>T, NM_002527.5:c.246C>T, NM_002527.4:c.246C>T, NM_001102654.2:c.285C>T, NM_001102654.1:c.285C>T, XM_011520963.3:c.246C>T, XM_011520963.2:c.246C>T, XM_011520963.1:c.246C>T, XM_047428901.1:c.246C>T

Select item 14843747644.

rs1484374764 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:5494778 (GRCh38)
12:5603944 (GRCh37)
Canonical SPDI:: NC_000012.12:5494777:A:G
Gene:: NTF3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.5494778A>G, NC_000012.11:g.5603944A>G, NG_050629.1:g.67665A>G, NM_002527.5:c.564A>G, NM_002527.4:c.564A>G, NM_001102654.2:c.603A>G, NM_001102654.1:c.603A>G, XM_011520963.3:c.564A>G, XM_011520963.2:c.564A>G, XM_011520963.1:c.564A>G, XM_047428901.1:c.564A>G

Select item 14751669695.

rs1475166969 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:5494403 (GRCh38)
12:5603569 (GRCh37)
Canonical SPDI:: NC_000012.12:5494402:G:A,NC_000012.12:5494402:G:C
Gene:: NTF3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000102/2 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.5494403G>A, NC_000012.12:g.5494403G>C, NC_000012.11:g.5603569G>A, NC_000012.11:g.5603569G>C, NG_050629.1:g.67290G>A, NG_050629.1:g.67290G>C, NM_002527.5:c.189G>A, NM_002527.5:c.189G>C, NM_002527.4:c.189G>A, NM_002527.4:c.189G>C, NM_001102654.2:c.228G>A, NM_001102654.2:c.228G>C, NM_001102654.1:c.228G>A, NM_001102654.1:c.228G>C, XM_011520963.3:c.189G>A, XM_011520963.3:c.189G>C, XM_011520963.2:c.189G>A, XM_011520963.2:c.189G>C, XM_011520963.1:c.189G>A, XM_011520963.1:c.189G>C, XM_047428901.1:c.189G>A, XM_047428901.1:c.189G>C

Select item 14747997066.

rs1474799706 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:5494695 (GRCh38)
12:5603861 (GRCh37)
Canonical SPDI:: NC_000012.12:5494694:G:A
Gene:: NTF3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.5494695G>A, NC_000012.11:g.5603861G>A, NG_050629.1:g.67582G>A, NM_002527.5:c.481G>A, NM_002527.4:c.481G>A, NM_001102654.2:c.520G>A, NM_001102654.1:c.520G>A, XM_011520963.3:c.481G>A, XM_011520963.2:c.481G>A, XM_011520963.1:c.481G>A, XM_047428901.1:c.481G>A, NP_002518.1:p.Asp161Asn, NP_001096124.1:p.Asp174Asn, XP_011519265.1:p.Asp161Asn, XP_047284857.1:p.Asp161Asn

Select item 14744225307.

rs1474422530 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 12:5494669 (GRCh38)
12:5603835 (GRCh37)
Canonical SPDI:: NC_000012.12:5494668:G:
Gene:: NTF3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.5494669del, NC_000012.11:g.5603835del, NG_050629.1:g.67556del, NM_002527.5:c.455del, NM_002527.4:c.455del, NM_001102654.2:c.494del, NM_001102654.1:c.494del, XM_011520963.3:c.455del, XM_011520963.2:c.455del, XM_011520963.1:c.455del, XM_047428901.1:c.455del, NP_002518.1:p.Cys152fs, NP_001096124.1:p.Cys165fs, XP_011519265.1:p.Cys152fs, XP_047284857.1:p.Cys152fs

Select item 14686754428.

rs1468675442 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:5494874 (GRCh38)
12:5604040 (GRCh37)
Canonical SPDI:: NC_000012.12:5494873:C:A
Gene:: NTF3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.5494874C>A, NC_000012.11:g.5604040C>A, NG_050629.1:g.67761C>A, NM_002527.5:c.660C>A, NM_002527.4:c.660C>A, NM_001102654.2:c.699C>A, NM_001102654.1:c.699C>A, XM_011520963.3:c.660C>A, XM_011520963.2:c.660C>A, XM_011520963.1:c.660C>A, XM_047428901.1:c.660C>A

Select item 14632650359.

rs1463265035 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:5494785 (GRCh38)
12:5603951 (GRCh37)
Canonical SPDI:: NC_000012.12:5494784:T:A
Gene:: NTF3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.5494785T>A, NC_000012.11:g.5603951T>A, NG_050629.1:g.67672T>A, NM_002527.5:c.571T>A, NM_002527.4:c.571T>A, NM_001102654.2:c.610T>A, NM_001102654.1:c.610T>A, XM_011520963.3:c.571T>A, XM_011520963.2:c.571T>A, XM_011520963.1:c.571T>A, XM_047428901.1:c.571T>A, NP_002518.1:p.Tyr191Asn, NP_001096124.1:p.Tyr204Asn, XP_011519265.1:p.Tyr191Asn, XP_047284857.1:p.Tyr191Asn

Select item 146251702610.

rs1462517026 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:5494292 (GRCh38)
12:5603458 (GRCh37)
Canonical SPDI:: NC_000012.12:5494291:G:C
Gene:: NTF3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000012.12:g.5494292G>C, NC_000012.11:g.5603458G>C, NG_050629.1:g.67179G>C, NM_002527.5:c.78G>C, NM_002527.4:c.78G>C, NM_001102654.2:c.117G>C, NM_001102654.1:c.117G>C, XM_011520963.3:c.78G>C, XM_011520963.2:c.78G>C, XM_011520963.1:c.78G>C, XM_047428901.1:c.78G>C, NP_002518.1:p.Leu26Phe, NP_001096124.1:p.Leu39Phe, XP_011519265.1:p.Leu26Phe, XP_047284857.1:p.Leu26Phe

Select item 145807712111.

rs1458077121 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:5494635 (GRCh38)
12:5603801 (GRCh37)
Canonical SPDI:: NC_000012.12:5494634:G:A
Gene:: NTF3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.5494635G>A, NC_000012.11:g.5603801G>A, NG_050629.1:g.67522G>A, NM_002527.5:c.421G>A, NM_002527.4:c.421G>A, NM_001102654.2:c.460G>A, NM_001102654.1:c.460G>A, XM_011520963.3:c.421G>A, XM_011520963.2:c.421G>A, XM_011520963.1:c.421G>A, XM_047428901.1:c.421G>A, NP_002518.1:p.Glu141Lys, NP_001096124.1:p.Glu154Lys, XP_011519265.1:p.Glu141Lys, XP_047284857.1:p.Glu141Lys

Select item 145805156012.

rs1458051560 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:5494979 (GRCh38)
12:5604145 (GRCh37)
Canonical SPDI:: NC_000012.12:5494978:A:G
Gene:: NTF3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.5494979A>G, NC_000012.11:g.5604145A>G, NG_050629.1:g.67866A>G, NM_002527.5:c.765A>G, NM_002527.4:c.765A>G, NM_001102654.2:c.804A>G, NM_001102654.1:c.804A>G, XM_011520963.3:c.765A>G, XM_011520963.2:c.765A>G, XM_011520963.1:c.765A>G, XM_047428901.1:c.765A>G

Select item 145296602913.

rs1452966029 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:5494290 (GRCh38)
12:5603456 (GRCh37)
Canonical SPDI:: NC_000012.12:5494289:T:C
Gene:: NTF3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.5494290T>C, NC_000012.11:g.5603456T>C, NG_050629.1:g.67177T>C, NM_002527.5:c.76T>C, NM_002527.4:c.76T>C, NM_001102654.2:c.115T>C, NM_001102654.1:c.115T>C, XM_011520963.3:c.76T>C, XM_011520963.2:c.76T>C, XM_011520963.1:c.76T>C, XM_047428901.1:c.76T>C

Select item 144789292514.

rs1447892925 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:5494936 (GRCh38)
12:5604102 (GRCh37)
Canonical SPDI:: NC_000012.12:5494935:G:A
Gene:: NTF3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.5494936G>A, NC_000012.11:g.5604102G>A, NG_050629.1:g.67823G>A, NM_002527.5:c.722G>A, NM_002527.4:c.722G>A, NM_001102654.2:c.761G>A, NM_001102654.1:c.761G>A, XM_011520963.3:c.722G>A, XM_011520963.2:c.722G>A, XM_011520963.1:c.722G>A, XM_047428901.1:c.722G>A, NP_002518.1:p.Arg241Gln, NP_001096124.1:p.Arg254Gln, XP_011519265.1:p.Arg241Gln, XP_047284857.1:p.Arg241Gln

Select item 144507906615.

rs1445079066 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:5494574 (GRCh38)
12:5603740 (GRCh37)
Canonical SPDI:: NC_000012.12:5494573:G:A
Gene:: NTF3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.5494574G>A, NC_000012.11:g.5603740G>A, NG_050629.1:g.67461G>A, NM_002527.5:c.360G>A, NM_002527.4:c.360G>A, NM_001102654.2:c.399G>A, NM_001102654.1:c.399G>A, XM_011520963.3:c.360G>A, XM_011520963.2:c.360G>A, XM_011520963.1:c.360G>A, XM_047428901.1:c.360G>A, NP_002518.1:p.Met120Ile, NP_001096124.1:p.Met133Ile, XP_011519265.1:p.Met120Ile, XP_047284857.1:p.Met120Ile

Select item 143742655316.

rs1437426553 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:5494649 (GRCh38)
12:5603815 (GRCh37)
Canonical SPDI:: NC_000012.12:5494648:C:T
Gene:: NTF3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.5494649C>T, NC_000012.11:g.5603815C>T, NG_050629.1:g.67536C>T, NM_002527.5:c.435C>T, NM_002527.4:c.435C>T, NM_001102654.2:c.474C>T, NM_001102654.1:c.474C>T, XM_011520963.3:c.435C>T, XM_011520963.2:c.435C>T, XM_011520963.1:c.435C>T, XM_047428901.1:c.435C>T

Select item 143512342217.

rs1435123422 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:5494266 (GRCh38)
12:5603432 (GRCh37)
Canonical SPDI:: NC_000012.12:5494265:G:A
Gene:: NTF3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000012.12:g.5494266G>A, NC_000012.11:g.5603432G>A, NG_050629.1:g.67153G>A, NM_002527.5:c.52G>A, NM_002527.4:c.52G>A, NM_001102654.2:c.91G>A, NM_001102654.1:c.91G>A, XM_011520963.3:c.52G>A, XM_011520963.2:c.52G>A, XM_011520963.1:c.52G>A, XM_047428901.1:c.52G>A, NP_002518.1:p.Gly18Ser, NP_001096124.1:p.Gly31Ser, XP_011519265.1:p.Gly18Ser, XP_047284857.1:p.Gly18Ser

Select item 143295980618.

rs1432959806 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:5494917 (GRCh38)
12:5604083 (GRCh37)
Canonical SPDI:: NC_000012.12:5494916:G:T
Gene:: NTF3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.5494917G>T, NC_000012.11:g.5604083G>T, NG_050629.1:g.67804G>T, NM_002527.5:c.703G>T, NM_002527.4:c.703G>T, NM_001102654.2:c.742G>T, NM_001102654.1:c.742G>T, XM_011520963.3:c.703G>T, XM_011520963.2:c.703G>T, XM_011520963.1:c.703G>T, XM_047428901.1:c.703G>T, NP_002518.1:p.Val235Leu, NP_001096124.1:p.Val248Leu, XP_011519265.1:p.Val235Leu, XP_047284857.1:p.Val235Leu

Select item 142576717419.

rs1425767174 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:5494705 (GRCh38)
12:5603871 (GRCh37)
Canonical SPDI:: NC_000012.12:5494704:C:T
Gene:: NTF3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000094/2 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.5494705C>T, NC_000012.11:g.5603871C>T, NG_050629.1:g.67592C>T, NM_002527.5:c.491C>T, NM_002527.4:c.491C>T, NM_001102654.2:c.530C>T, NM_001102654.1:c.530C>T, XM_011520963.3:c.491C>T, XM_011520963.2:c.491C>T, XM_011520963.1:c.491C>T, XM_047428901.1:c.491C>T, NP_002518.1:p.Ser164Leu, NP_001096124.1:p.Ser177Leu, XP_011519265.1:p.Ser164Leu, XP_047284857.1:p.Ser164Leu

Select item 141956027020.

rs1419560270 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:5494409 (GRCh38)
12:5603575 (GRCh37)
Canonical SPDI:: NC_000012.12:5494408:A:G
Gene:: NTF3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.5494409A>G, NC_000012.11:g.5603575A>G, NG_050629.1:g.67296A>G, NM_002527.5:c.195A>G, NM_002527.4:c.195A>G, NM_001102654.2:c.234A>G, NM_001102654.1:c.234A>G, XM_011520963.3:c.195A>G, XM_011520963.2:c.195A>G, XM_011520963.1:c.195A>G, XM_047428901.1:c.195A>G

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