SNP Links for Protein (Select 33457324) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 528

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Select item 14898178851.

rs1489817885 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:98134399 (GRCh38)
4:99055550 (GRCh37)
Canonical SPDI:: NC_000004.12:98134398:C:A,NC_000004.12:98134398:C:T
Gene:: STPG2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000004.12:g.98134399C>A, NC_000004.12:g.98134399C>T, NC_000004.11:g.99055550C>A, NC_000004.11:g.99055550C>T, XM_011531886.4:c.170G>T, XM_011531886.4:c.170G>A, XM_011531886.3:c.170G>T, XM_011531886.3:c.170G>A, XM_011531886.2:c.170G>T, XM_011531886.2:c.170G>A, XM_011531886.1:c.170G>T, XM_011531886.1:c.170G>A, XM_017008049.3:c.170G>T, XM_017008049.3:c.170G>A, XM_017008049.2:c.170G>T, XM_017008049.2:c.170G>A, XM_017008049.1:c.170G>T, XM_017008049.1:c.170G>A, NM_174952.3:c.170G>T, NM_174952.3:c.170G>A, NM_174952.2:c.170G>T, NM_174952.2:c.170G>A, XM_047450118.1:c.170G>T, XM_047450118.1:c.170G>A, XM_047450119.1:c.170G>T, XM_047450119.1:c.170G>A, XM_047450120.1:c.170G>T, XM_047450120.1:c.170G>A, XP_011530188.1:p.Ser57Ile, XP_011530188.1:p.Ser57Asn, XP_016863538.1:p.Ser57Ile, XP_016863538.1:p.Ser57Asn, NP_777612.1:p.Ser57Ile, NP_777612.1:p.Ser57Asn, XP_047306074.1:p.Ser57Ile, XP_047306074.1:p.Ser57Asn, XP_047306075.1:p.Ser57Ile, XP_047306075.1:p.Ser57Asn, XP_047306076.1:p.Ser57Ile, XP_047306076.1:p.Ser57Asn

Select item 14891735542.

rs1489173554 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:98106057 (GRCh38)
4:99027208 (GRCh37)
Canonical SPDI:: NC_000004.12:98106056:T:C
Gene:: STPG2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.98106057T>C, NC_000004.11:g.99027208T>C, XM_011531886.4:c.667A>G, XM_011531886.3:c.667A>G, XM_011531886.2:c.667A>G, XM_011531886.1:c.667A>G, NM_174952.3:c.508A>G, NM_174952.2:c.508A>G, XM_047450118.1:c.508A>G, XM_047450119.1:c.508A>G, XP_011530188.1:p.Thr223Ala, NP_777612.1:p.Thr170Ala, XP_047306074.1:p.Thr170Ala, XP_047306075.1:p.Thr170Ala

Select item 14889612303.

rs1488961230 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCTGG>- [Show Flanks]
Chromosome:: 4:97712715 (GRCh38)
4:98633866 (GRCh37)
Canonical SPDI:: NC_000004.12:97712712:GGCCTGG:GG
Gene:: STPG2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.97712715_97712719del, NC_000004.11:g.98633866_98633870del, XM_011531886.4:c.1569_1573del, XM_011531886.3:c.1569_1573del, XM_011531886.2:c.1569_1573del, XM_011531886.1:c.1569_1573del, XM_017008049.3:c.1344_1348del, XM_017008049.2:c.1344_1348del, XM_017008049.1:c.1344_1348del, NM_174952.3:c.1302_1306del, NM_174952.2:c.1302_1306del, XM_017008051.3:c.741_745del, XM_017008051.2:c.741_745del, XM_017008051.1:c.741_745del, XM_047450118.1:c.1302_1306del, XM_047450119.1:c.1302_1306del, XM_047450120.1:c.1236_1240del, XP_011530188.1:p.Gly524fs, XP_016863538.1:p.Gly449fs, NP_777612.1:p.Gly435fs, XP_016863540.1:p.Gly248fs, XP_047306074.1:p.Gly435fs, XP_047306075.1:p.Gly435fs, XP_047306076.1:p.Gly413fs

Select item 14881930664.

rs1488193066 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:97981214 (GRCh38)
4:98902365 (GRCh37)
Canonical SPDI:: NC_000004.12:97981213:T:C
Gene:: STPG2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.97981214T>C, NC_000004.11:g.98902365T>C, XM_011531886.4:c.984A>G, XM_011531886.3:c.984A>G, XM_011531886.2:c.984A>G, XM_011531886.1:c.984A>G, XM_017008049.3:c.759A>G, XM_017008049.2:c.759A>G, XM_017008049.1:c.759A>G, NM_174952.3:c.717A>G, NM_174952.2:c.717A>G, XM_017008051.3:c.156A>G, XM_017008051.2:c.156A>G, XM_017008051.1:c.156A>G, XM_047450118.1:c.717A>G, XM_047450119.1:c.717A>G, XM_047450120.1:c.651A>G

Select item 14861305325.

rs1486130532 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:97981159 (GRCh38)
4:98902310 (GRCh37)
Canonical SPDI:: NC_000004.12:97981158:C:A,NC_000004.12:97981158:C:T
Gene:: STPG2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.00003/1 (ALFA)
HGVS:: NC_000004.12:g.97981159C>A, NC_000004.12:g.97981159C>T, NC_000004.11:g.98902310C>A, NC_000004.11:g.98902310C>T, XM_011531886.4:c.1039G>T, XM_011531886.4:c.1039G>A, XM_011531886.3:c.1039G>T, XM_011531886.3:c.1039G>A, XM_011531886.2:c.1039G>T, XM_011531886.2:c.1039G>A, XM_011531886.1:c.1039G>T, XM_011531886.1:c.1039G>A, XM_017008049.3:c.814G>T, XM_017008049.3:c.814G>A, XM_017008049.2:c.814G>T, XM_017008049.2:c.814G>A, XM_017008049.1:c.814G>T, XM_017008049.1:c.814G>A, NM_174952.3:c.772G>T, NM_174952.3:c.772G>A, NM_174952.2:c.772G>T, NM_174952.2:c.772G>A, XM_017008051.3:c.211G>T, XM_017008051.3:c.211G>A, XM_017008051.2:c.211G>T, XM_017008051.2:c.211G>A, XM_017008051.1:c.211G>T, XM_017008051.1:c.211G>A, XM_047450118.1:c.772G>T, XM_047450118.1:c.772G>A, XM_047450119.1:c.772G>T, XM_047450119.1:c.772G>A, XM_047450120.1:c.706G>T, XM_047450120.1:c.706G>A, XP_011530188.1:p.Gly347Cys, XP_011530188.1:p.Gly347Ser, XP_016863538.1:p.Gly272Cys, XP_016863538.1:p.Gly272Ser, NP_777612.1:p.Gly258Cys, NP_777612.1:p.Gly258Ser, XP_016863540.1:p.Gly71Cys, XP_016863540.1:p.Gly71Ser, XP_047306074.1:p.Gly258Cys, XP_047306074.1:p.Gly258Ser, XP_047306075.1:p.Gly258Cys, XP_047306075.1:p.Gly258Ser, XP_047306076.1:p.Gly236Cys, XP_047306076.1:p.Gly236Ser

Select item 14849468686.

rs1484946868 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:97712755 (GRCh38)
4:98633906 (GRCh37)
Canonical SPDI:: NC_000004.12:97712754:C:T
Gene:: STPG2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.97712755C>T, NC_000004.11:g.98633906C>T, XM_011531886.4:c.1531G>A, XM_011531886.3:c.1531G>A, XM_011531886.2:c.1531G>A, XM_011531886.1:c.1531G>A, XM_017008049.3:c.1306G>A, XM_017008049.2:c.1306G>A, XM_017008049.1:c.1306G>A, NM_174952.3:c.1264G>A, NM_174952.2:c.1264G>A, XM_017008051.3:c.703G>A, XM_017008051.2:c.703G>A, XM_017008051.1:c.703G>A, XM_047450118.1:c.1264G>A, XM_047450119.1:c.1264G>A, XM_047450120.1:c.1198G>A, XP_011530188.1:p.Ala511Thr, XP_016863538.1:p.Ala436Thr, NP_777612.1:p.Ala422Thr, XP_016863540.1:p.Ala235Thr, XP_047306074.1:p.Ala422Thr, XP_047306075.1:p.Ala422Thr, XP_047306076.1:p.Ala400Thr

Select item 14839108057.

rs1483910805 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:97840865 (GRCh38)
4:98762016 (GRCh37)
Canonical SPDI:: NC_000004.12:97840864:T:C
Gene:: STPG2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.97840865T>C, NC_000004.11:g.98762016T>C, XM_011531886.4:c.1379A>G, XM_011531886.3:c.1379A>G, XM_011531886.2:c.1379A>G, XM_011531886.1:c.1379A>G, XM_017008049.3:c.1154A>G, XM_017008049.2:c.1154A>G, XM_017008049.1:c.1154A>G, NM_174952.3:c.1112A>G, NM_174952.2:c.1112A>G, XM_017008051.3:c.551A>G, XM_017008051.2:c.551A>G, XM_017008051.1:c.551A>G, XM_047450118.1:c.1112A>G, XM_047450119.1:c.1112A>G, XM_047450120.1:c.1046A>G, XP_011530188.1:p.Tyr460Cys, XP_016863538.1:p.Tyr385Cys, NP_777612.1:p.Tyr371Cys, XP_016863540.1:p.Tyr184Cys, XP_047306074.1:p.Tyr371Cys, XP_047306075.1:p.Tyr371Cys, XP_047306076.1:p.Tyr349Cys

Select item 14836017198.

rs1483601719 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATCA>- [Show Flanks]
Chromosome:: 4:97972286 (GRCh38)
4:98893437 (GRCh37)
Canonical SPDI:: NC_000004.12:97972284:AATCA:A
Gene:: STPG2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.97972286_97972289del, NC_000004.11:g.98893437_98893440del, XM_011531886.4:c.1192_1195del, XM_011531886.3:c.1192_1195del, XM_011531886.2:c.1192_1195del, XM_011531886.1:c.1192_1195del, XM_017008049.3:c.967_970del, XM_017008049.2:c.967_970del, XM_017008049.1:c.967_970del, NM_174952.3:c.925_928del, NM_174952.2:c.925_928del, XM_017008051.3:c.364_367del, XM_017008051.2:c.364_367del, XM_017008051.1:c.364_367del, XM_047450118.1:c.925_928del, XM_047450119.1:c.925_928del, XM_047450120.1:c.859_862del, XP_011530188.1:p.Asp398fs, XP_016863538.1:p.Asp323fs, NP_777612.1:p.Asp309fs, XP_016863540.1:p.Asp122fs, XP_047306074.1:p.Asp309fs, XP_047306075.1:p.Asp309fs, XP_047306076.1:p.Asp287fs

Select item 14834831599.

rs1483483159 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:97972287 (GRCh38)
4:98893438 (GRCh37)
Canonical SPDI:: NC_000004.12:97972286:T:A
Gene:: STPG2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.97972287T>A, NC_000004.11:g.98893438T>A, XM_011531886.4:c.1193A>T, XM_011531886.3:c.1193A>T, XM_011531886.2:c.1193A>T, XM_011531886.1:c.1193A>T, XM_017008049.3:c.968A>T, XM_017008049.2:c.968A>T, XM_017008049.1:c.968A>T, NM_174952.3:c.926A>T, NM_174952.2:c.926A>T, XM_017008051.3:c.365A>T, XM_017008051.2:c.365A>T, XM_017008051.1:c.365A>T, XM_047450118.1:c.926A>T, XM_047450119.1:c.926A>T, XM_047450120.1:c.860A>T, XP_011530188.1:p.Asp398Val, XP_016863538.1:p.Asp323Val, NP_777612.1:p.Asp309Val, XP_016863540.1:p.Asp122Val, XP_047306074.1:p.Asp309Val, XP_047306075.1:p.Asp309Val, XP_047306076.1:p.Asp287Val

Select item 148342998810.

rs1483429988 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 4:98109204 (GRCh38)
4:99030355 (GRCh37)
Canonical SPDI:: NC_000004.12:98109203:A:G,NC_000004.12:98109203:A:T
Gene:: STPG2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,5_prime_UTR_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.98109204A>G, NC_000004.12:g.98109204A>T, NC_000004.11:g.99030355A>G, NC_000004.11:g.99030355A>T, XM_011531886.4:c.648T>C, XM_011531886.4:c.648T>A, XM_011531886.3:c.648T>C, XM_011531886.3:c.648T>A, XM_011531886.2:c.648T>C, XM_011531886.2:c.648T>A, XM_011531886.1:c.648T>C, XM_011531886.1:c.648T>A, NM_174952.3:c.489T>C, NM_174952.3:c.489T>A, NM_174952.2:c.489T>C, NM_174952.2:c.489T>A, XM_017008051.3:c.-69T>C, XM_017008051.3:c.-69T>A, XM_017008051.2:c.-69T>C, XM_017008051.2:c.-69T>A, XM_017008051.1:c.-69T>C, XM_017008051.1:c.-69T>A, XM_047450118.1:c.489T>C, XM_047450118.1:c.489T>A, XM_047450119.1:c.489T>C, XM_047450119.1:c.489T>A, XP_011530188.1:p.Tyr216Ter, NP_777612.1:p.Tyr163Ter, XP_047306074.1:p.Tyr163Ter, XP_047306075.1:p.Tyr163Ter

Select item 148068541511.

rs1480685415 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:97712805 (GRCh38)
4:98633956 (GRCh37)
Canonical SPDI:: NC_000004.12:97712804:G:T
Gene:: STPG2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.97712805G>T, NC_000004.11:g.98633956G>T, XM_011531886.4:c.1481C>A, XM_011531886.3:c.1481C>A, XM_011531886.2:c.1481C>A, XM_011531886.1:c.1481C>A, XM_017008049.3:c.1256C>A, XM_017008049.2:c.1256C>A, XM_017008049.1:c.1256C>A, NM_174952.3:c.1214C>A, NM_174952.2:c.1214C>A, XM_017008051.3:c.653C>A, XM_017008051.2:c.653C>A, XM_017008051.1:c.653C>A, XM_047450118.1:c.1214C>A, XM_047450119.1:c.1214C>A, XM_047450120.1:c.1148C>A, XP_011530188.1:p.Ala494Glu, XP_016863538.1:p.Ala419Glu, NP_777612.1:p.Ala405Glu, XP_016863540.1:p.Ala218Glu, XP_047306074.1:p.Ala405Glu, XP_047306075.1:p.Ala405Glu, XP_047306076.1:p.Ala383Glu

Select item 147994762512.

rs1479947625 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:98143114 (GRCh38)
4:99064265 (GRCh37)
Canonical SPDI:: NC_000004.12:98143113:C:A,NC_000004.12:98143113:C:T
Gene:: STPG2 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.98143114C>A, NC_000004.12:g.98143114C>T, NC_000004.11:g.99064265C>A, NC_000004.11:g.99064265C>T, XM_011531886.4:c.37G>T, XM_011531886.4:c.37G>A, XM_011531886.3:c.37G>T, XM_011531886.3:c.37G>A, XM_011531886.2:c.37G>T, XM_011531886.2:c.37G>A, XM_011531886.1:c.37G>T, XM_011531886.1:c.37G>A, XM_017008049.3:c.37G>T, XM_017008049.3:c.37G>A, XM_017008049.2:c.37G>T, XM_017008049.2:c.37G>A, XM_017008049.1:c.37G>T, XM_017008049.1:c.37G>A, NM_174952.3:c.37G>T, NM_174952.3:c.37G>A, NM_174952.2:c.37G>T, NM_174952.2:c.37G>A, XM_047450118.1:c.37G>T, XM_047450118.1:c.37G>A, XM_047450119.1:c.37G>T, XM_047450119.1:c.37G>A, XM_047450120.1:c.37G>T, XM_047450120.1:c.37G>A, XP_011530188.1:p.Glu13Ter, XP_011530188.1:p.Glu13Lys, XP_016863538.1:p.Glu13Ter, XP_016863538.1:p.Glu13Lys, NP_777612.1:p.Glu13Ter, NP_777612.1:p.Glu13Lys, XP_047306074.1:p.Glu13Ter, XP_047306074.1:p.Glu13Lys, XP_047306075.1:p.Glu13Ter, XP_047306075.1:p.Glu13Lys, XP_047306076.1:p.Glu13Ter, XP_047306076.1:p.Glu13Lys

Select item 147892555013.

rs1478925550 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:98128525 (GRCh38)
4:99049676 (GRCh37)
Canonical SPDI:: NC_000004.12:98128524:G:A
Gene:: STPG2 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_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_000004.12:g.98128525G>A, NC_000004.11:g.99049676G>A, XM_011531886.4:c.449C>T, XM_011531886.3:c.449C>T, XM_011531886.2:c.449C>T, XM_011531886.1:c.449C>T, XM_017008049.3:c.449C>T, XM_017008049.2:c.449C>T, XM_017008049.1:c.449C>T, NM_174952.3:c.290C>T, NM_174952.2:c.290C>T, XM_047450118.1:c.290C>T, XM_047450119.1:c.290C>T, XM_047450120.1:c.449C>T, XP_011530188.1:p.Ser150Leu, XP_016863538.1:p.Ser150Leu, NP_777612.1:p.Ser97Leu, XP_047306074.1:p.Ser97Leu, XP_047306075.1:p.Ser97Leu, XP_047306076.1:p.Ser150Leu

Select item 147865495014.

rs1478654950 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:98106010 (GRCh38)
4:99027161 (GRCh37)
Canonical SPDI:: NC_000004.12:98106009:A:G
Gene:: STPG2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000004.12:g.98106010A>G, NC_000004.11:g.99027161A>G, XM_011531886.4:c.714T>C, XM_011531886.3:c.714T>C, XM_011531886.2:c.714T>C, XM_011531886.1:c.714T>C, NM_174952.3:c.555T>C, NM_174952.2:c.555T>C, XM_047450118.1:c.555T>C, XM_047450119.1:c.555T>C

Select item 147832529715.

rs1478325297 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:98109253 (GRCh38)
4:99030404 (GRCh37)
Canonical SPDI:: NC_000004.12:98109252:G:T
Gene:: STPG2 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.98109253G>T, NC_000004.11:g.99030404G>T, XM_011531886.4:c.599C>A, XM_011531886.3:c.599C>A, XM_011531886.2:c.599C>A, XM_011531886.1:c.599C>A, NM_174952.3:c.440C>A, NM_174952.2:c.440C>A, XM_017008051.3:c.-118C>A, XM_017008051.2:c.-118C>A, XM_017008051.1:c.-118C>A, XM_047450118.1:c.440C>A, XM_047450119.1:c.440C>A, XP_011530188.1:p.Ser200Ter, NP_777612.1:p.Ser147Ter, XP_047306074.1:p.Ser147Ter, XP_047306075.1:p.Ser147Ter

Select item 147521528016.

rs1475215280 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:98128459 (GRCh38)
4:99049610 (GRCh37)
Canonical SPDI:: NC_000004.12:98128458:G:A,NC_000004.12:98128458:G:T
Gene:: STPG2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.98128459G>A, NC_000004.12:g.98128459G>T, NC_000004.11:g.99049610G>A, NC_000004.11:g.99049610G>T, XM_011531886.4:c.515C>T, XM_011531886.4:c.515C>A, XM_011531886.3:c.515C>T, XM_011531886.3:c.515C>A, XM_011531886.2:c.515C>T, XM_011531886.2:c.515C>A, XM_011531886.1:c.515C>T, XM_011531886.1:c.515C>A, XM_017008049.3:c.515C>T, XM_017008049.3:c.515C>A, XM_017008049.2:c.515C>T, XM_017008049.2:c.515C>A, XM_017008049.1:c.515C>T, XM_017008049.1:c.515C>A, NM_174952.3:c.356C>T, NM_174952.3:c.356C>A, NM_174952.2:c.356C>T, NM_174952.2:c.356C>A, XM_047450118.1:c.356C>T, XM_047450118.1:c.356C>A, XM_047450119.1:c.356C>T, XM_047450119.1:c.356C>A, XM_047450120.1:c.515C>T, XM_047450120.1:c.515C>A, XP_011530188.1:p.Thr172Ile, XP_011530188.1:p.Thr172Lys, XP_016863538.1:p.Thr172Ile, XP_016863538.1:p.Thr172Lys, NP_777612.1:p.Thr119Ile, NP_777612.1:p.Thr119Lys, XP_047306074.1:p.Thr119Ile, XP_047306074.1:p.Thr119Lys, XP_047306075.1:p.Thr119Ile, XP_047306075.1:p.Thr119Lys, XP_047306076.1:p.Thr172Ile, XP_047306076.1:p.Thr172Lys

Select item 146953026817.

rs1469530268 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 4:97840834 (GRCh38)
4:98761985 (GRCh37)
Canonical SPDI:: NC_000004.12:97840833:T:A,NC_000004.12:97840833:T:G
Gene:: STPG2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
A=0.000343/1 (KOREAN)
A=0.000546/1 (Korea1K)
HGVS:: NC_000004.12:g.97840834T>A, NC_000004.12:g.97840834T>G, NC_000004.11:g.98761985T>A, NC_000004.11:g.98761985T>G, XM_011531886.4:c.1410A>T, XM_011531886.4:c.1410A>C, XM_011531886.3:c.1410A>T, XM_011531886.3:c.1410A>C, XM_011531886.2:c.1410A>T, XM_011531886.2:c.1410A>C, XM_011531886.1:c.1410A>T, XM_011531886.1:c.1410A>C, XM_017008049.3:c.1185A>T, XM_017008049.3:c.1185A>C, XM_017008049.2:c.1185A>T, XM_017008049.2:c.1185A>C, XM_017008049.1:c.1185A>T, XM_017008049.1:c.1185A>C, NM_174952.3:c.1143A>T, NM_174952.3:c.1143A>C, NM_174952.2:c.1143A>T, NM_174952.2:c.1143A>C, XM_017008051.3:c.582A>T, XM_017008051.3:c.582A>C, XM_017008051.2:c.582A>T, XM_017008051.2:c.582A>C, XM_017008051.1:c.582A>T, XM_017008051.1:c.582A>C, XM_047450118.1:c.1143A>T, XM_047450118.1:c.1143A>C, XM_047450119.1:c.1143A>T, XM_047450119.1:c.1143A>C, XM_047450120.1:c.1077A>T, XM_047450120.1:c.1077A>C, XP_011530188.1:p.Arg470Ser, XP_011530188.1:p.Arg470Ser, XP_016863538.1:p.Arg395Ser, XP_016863538.1:p.Arg395Ser, NP_777612.1:p.Arg381Ser, NP_777612.1:p.Arg381Ser, XP_016863540.1:p.Arg194Ser, XP_016863540.1:p.Arg194Ser, XP_047306074.1:p.Arg381Ser, XP_047306074.1:p.Arg381Ser, XP_047306075.1:p.Arg381Ser, XP_047306075.1:p.Arg381Ser, XP_047306076.1:p.Arg359Ser, XP_047306076.1:p.Arg359Ser

Select item 146913814618.

rs1469138146 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTTT>- [Show Flanks]
Chromosome:: 4:97559100 (GRCh38)
4:98480251 (GRCh37)
Canonical SPDI:: NC_000004.12:97559095:CTTTCTTT:CTTT
Gene:: STPG2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTTTCTTT=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000019/5 (TOPMED)
HGVS:: NC_000004.12:g.97559096CTTT[1], NC_000004.11:g.98480247CTTT[1], NM_174952.3:c.1339_1342del, NM_174952.2:c.1339_1342del, NP_777612.1:p.Lys447fs

Select item 146618246519.

rs1466182465 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:98143085 (GRCh38)
4:99064236 (GRCh37)
Canonical SPDI:: NC_000004.12:98143084:A:T
Gene:: STPG2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.98143085A>T, NC_000004.11:g.99064236A>T, XM_011531886.4:c.66T>A, XM_011531886.3:c.66T>A, XM_011531886.2:c.66T>A, XM_011531886.1:c.66T>A, XM_017008049.3:c.66T>A, XM_017008049.2:c.66T>A, XM_017008049.1:c.66T>A, NM_174952.3:c.66T>A, NM_174952.2:c.66T>A, XM_047450118.1:c.66T>A, XM_047450119.1:c.66T>A, XM_047450120.1:c.66T>A

Select item 146438351620.

rs1464383516 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:97840784 (GRCh38)
4:98761935 (GRCh37)
Canonical SPDI:: NC_000004.12:97840783:G:C
Gene:: STPG2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.97840784G>C, NC_000004.11:g.98761935G>C, XM_011531886.4:c.1460C>G, XM_011531886.3:c.1460C>G, XM_011531886.2:c.1460C>G, XM_011531886.1:c.1460C>G, XM_017008049.3:c.1235C>G, XM_017008049.2:c.1235C>G, XM_017008049.1:c.1235C>G, NM_174952.3:c.1193C>G, NM_174952.2:c.1193C>G, XM_017008051.3:c.632C>G, XM_017008051.2:c.632C>G, XM_017008051.1:c.632C>G, XM_047450118.1:c.1193C>G, XM_047450119.1:c.1193C>G, XM_047450120.1:c.1127C>G, XP_011530188.1:p.Thr487Ser, XP_016863538.1:p.Thr412Ser, NP_777612.1:p.Thr398Ser, XP_016863540.1:p.Thr211Ser, XP_047306074.1:p.Thr398Ser, XP_047306075.1:p.Thr398Ser, XP_047306076.1:p.Thr376Ser

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