SNP Links for Protein (Select 281182408) - SNP

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:16786511 (GRCh38)
X:16804634 (GRCh37)
Canonical SPDI:: NC_000023.11:16786510:A:G
Gene:: TXLNG (Varview), LOC124905250 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,2KB_upstream_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.16786511A>G, NC_000023.10:g.16804634A>G, NG_016267.1:g.5080A>G, NM_018360.3:c.24A>G, NM_018360.2:c.24A>G, NM_001168683.2:c.24A>G, NM_001168683.1:c.24A>G, XM_047442249.1:c.24A>G

Select item 146440842213.

rs1464408422 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:16829608 (GRCh38)
X:16847731 (GRCh37)
Canonical SPDI:: NC_000023.11:16829607:A:G
Gene:: TXLNG (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000005/1 (GnomAD_exomes)
G=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.16829608A>G, NC_000023.10:g.16847731A>G, NG_016267.1:g.48177A>G, NM_018360.3:c.702A>G, NM_018360.2:c.702A>G, NM_001168683.2:c.306A>G, NM_001168683.1:c.306A>G, XM_017029631.2:c.87A>G, XM_017029631.1:c.87A>G, XM_024452400.2:c.585A>G, XM_024452400.1:c.585A>G, XM_047442249.1:c.702A>G

Select item 146360252714.

rs1463602527 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:16841713 (GRCh38)
X:16859836 (GRCh37)
Canonical SPDI:: NC_000023.11:16841712:G:A,NC_000023.11:16841712:G:T
Gene:: TXLNG (Varview), LOC124905251 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.16841713G>A, NC_000023.11:g.16841713G>T, NC_000023.10:g.16859836G>A, NC_000023.10:g.16859836G>T, NG_016267.1:g.60282G>A, NG_016267.1:g.60282G>T, NM_018360.3:c.1534G>A, NM_018360.3:c.1534G>T, NM_018360.2:c.1534G>A, NM_018360.2:c.1534G>T, NM_001168683.2:c.1138G>A, NM_001168683.2:c.1138G>T, NM_001168683.1:c.1138G>A, NM_001168683.1:c.1138G>T, XM_017029631.2:c.919G>A, XM_017029631.2:c.919G>T, XM_017029631.1:c.919G>A, XM_017029631.1:c.919G>T, XM_024452400.2:c.1417G>A, XM_024452400.2:c.1417G>T, XM_024452400.1:c.1417G>A, XM_024452400.1:c.1417G>T, NP_060830.2:p.Val512Met, NP_060830.2:p.Val512Leu, NP_001162154.1:p.Val380Met, NP_001162154.1:p.Val380Leu, XP_016885120.1:p.Val307Met, XP_016885120.1:p.Val307Leu, XP_024308168.1:p.Val473Met, XP_024308168.1:p.Val473Leu

Select item 146249944715.

rs1462499447 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:16829619 (GRCh38)
X:16847742 (GRCh37)
Canonical SPDI:: NC_000023.11:16829618:A:G
Gene:: TXLNG (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.16829619A>G, NC_000023.10:g.16847742A>G, NG_016267.1:g.48188A>G, NM_018360.3:c.713A>G, NM_018360.2:c.713A>G, NM_001168683.2:c.317A>G, NM_001168683.1:c.317A>G, XM_017029631.2:c.98A>G, XM_017029631.1:c.98A>G, XM_024452400.2:c.596A>G, XM_024452400.1:c.596A>G, XM_047442249.1:c.713A>G, NP_060830.2:p.Lys238Arg, NP_001162154.1:p.Lys106Arg, XP_016885120.1:p.Lys33Arg, XP_024308168.1:p.Lys199Arg, XP_047298205.1:p.Lys238Arg

Select item 145609216116.

rs1456092161 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:16829634 (GRCh38)
X:16847757 (GRCh37)
Canonical SPDI:: NC_000023.11:16829633:A:G
Gene:: TXLNG (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.16829634A>G, NC_000023.10:g.16847757A>G, NG_016267.1:g.48203A>G, NM_018360.3:c.728A>G, NM_018360.2:c.728A>G, NM_001168683.2:c.332A>G, NM_001168683.1:c.332A>G, XM_017029631.2:c.113A>G, XM_017029631.1:c.113A>G, XM_024452400.2:c.611A>G, XM_024452400.1:c.611A>G, XM_047442249.1:c.728A>G, NP_060830.2:p.His243Arg, NP_001162154.1:p.His111Arg, XP_016885120.1:p.His38Arg, XP_024308168.1:p.His204Arg, XP_047298205.1:p.His243Arg

Select item 145405436817.

rs1454054368 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:16841690 (GRCh38)
X:16859813 (GRCh37)
Canonical SPDI:: NC_000023.11:16841689:A:G
Gene:: TXLNG (Varview), LOC124905251 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.16841690A>G, NC_000023.10:g.16859813A>G, NG_016267.1:g.60259A>G, NM_018360.3:c.1511A>G, NM_018360.2:c.1511A>G, NM_001168683.2:c.1115A>G, NM_001168683.1:c.1115A>G, XM_017029631.2:c.896A>G, XM_017029631.1:c.896A>G, XM_024452400.2:c.1394A>G, XM_024452400.1:c.1394A>G, NP_060830.2:p.Glu504Gly, NP_001162154.1:p.Glu372Gly, XP_016885120.1:p.Glu299Gly, XP_024308168.1:p.Glu465Gly

Select item 145128379518.

rs1451283795 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:16837633 (GRCh38)
X:16855756 (GRCh37)
Canonical SPDI:: NC_000023.11:16837632:C:G
Gene:: TXLNG (Varview), LOC124905251 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.16837633C>G, NC_000023.10:g.16855756C>G, NG_016267.1:g.56202C>G, NM_018360.3:c.1100C>G, NM_018360.2:c.1100C>G, NM_001168683.2:c.704C>G, NM_001168683.1:c.704C>G, XM_017029631.2:c.485C>G, XM_017029631.1:c.485C>G, XM_024452400.2:c.983C>G, XM_024452400.1:c.983C>G, XR_007068399.1:n.1771G>C, XM_047442249.1:c.1100C>G, NP_060830.2:p.Thr367Ser, NP_001162154.1:p.Thr235Ser, XP_016885120.1:p.Thr162Ser, XP_024308168.1:p.Thr328Ser, XP_047298205.1:p.Thr367Ser

Select item 145029510419.

rs1450295104 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:16829672 (GRCh38)
X:16847795 (GRCh37)
Canonical SPDI:: NC_000023.11:16829671:G:A
Gene:: TXLNG (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00003/8 (TOPMED)
HGVS:: NC_000023.11:g.16829672G>A, NC_000023.10:g.16847795G>A, NG_016267.1:g.48241G>A, NM_018360.3:c.766G>A, NM_018360.2:c.766G>A, NM_001168683.2:c.370G>A, NM_001168683.1:c.370G>A, XM_017029631.2:c.151G>A, XM_017029631.1:c.151G>A, XM_024452400.2:c.649G>A, XM_024452400.1:c.649G>A, XM_047442249.1:c.766G>A, NP_060830.2:p.Glu256Lys, NP_001162154.1:p.Glu124Lys, XP_016885120.1:p.Glu51Lys, XP_024308168.1:p.Glu217Lys, XP_047298205.1:p.Glu256Lys

Select item 144981593120.

rs1449815931 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:16841611 (GRCh38)
X:16859734 (GRCh37)
Canonical SPDI:: NC_000023.11:16841610:C:T
Gene:: TXLNG (Varview), LOC124905251 (Varview)
Functional Consequence:: upstream_transcript_variant,stop_gained,coding_sequence_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by cluster
HGVS:: NC_000023.11:g.16841611C>T, NC_000023.10:g.16859734C>T, NG_016267.1:g.60180C>T, NM_018360.3:c.1432C>T, NM_018360.2:c.1432C>T, NM_001168683.2:c.1036C>T, NM_001168683.1:c.1036C>T, XM_017029631.2:c.817C>T, XM_017029631.1:c.817C>T, XM_024452400.2:c.1315C>T, XM_024452400.1:c.1315C>T, NP_060830.2:p.Gln478Ter, NP_001162154.1:p.Gln346Ter, XP_016885120.1:p.Gln273Ter, XP_024308168.1:p.Gln439Ter

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