SNP Links for Protein (Select 21389467) - SNP

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Links from Protein

Items: 1 to 20 of 780

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Select item 14906731421.

rs1490673142 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:126489349 (GRCh38)
3:126208192 (GRCh37)
Canonical SPDI:: NC_000003.12:126489348:G:A
Gene:: UROC1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.126489349G>A, NC_000003.11:g.126208192G>A, NG_016286.1:g.33403C>T, NM_144639.3:c.1635C>T, NM_144639.2:c.1635C>T, NM_001165974.2:c.1815C>T, NM_001165974.1:c.1815C>T, NG_083121.1:g.386G>A

Select item 14906222002.

rs1490622200 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:126498074 (GRCh38)
3:126216917 (GRCh37)
Canonical SPDI:: NC_000003.12:126498073:A:C
Gene:: UROC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.126498074A>C, NC_000003.11:g.126216917A>C, NG_016286.1:g.24678T>G, NM_144639.3:c.1415T>G, NM_144639.2:c.1415T>G, NM_001165974.2:c.1595T>G, NM_001165974.1:c.1595T>G, NP_653240.1:p.Leu472Arg, NP_001159446.1:p.Leu532Arg

Select item 14898322813.

rs1489832281 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:126492501 (GRCh38)
3:126211344 (GRCh37)
Canonical SPDI:: NC_000003.12:126492500:C:T
Gene:: UROC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.126492501C>T, NC_000003.11:g.126211344C>T, NG_016286.1:g.30251G>A, NM_144639.3:c.1525G>A, NM_144639.2:c.1525G>A, NM_001165974.2:c.1705G>A, NM_001165974.1:c.1705G>A, NP_653240.1:p.Ala509Thr, NP_001159446.1:p.Ala569Thr

Select item 14896361654.

rs1489636165 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:126505759 (GRCh38)
3:126224602 (GRCh37)
Canonical SPDI:: NC_000003.12:126505758:A:G
Gene:: UROC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.126505759A>G, NC_000003.11:g.126224602A>G, NG_016286.1:g.16993T>C, NM_144639.3:c.755T>C, NM_144639.2:c.755T>C, NM_001165974.2:c.755T>C, NM_001165974.1:c.755T>C, NP_653240.1:p.Met252Thr, NP_001159446.1:p.Met252Thr

Select item 14888518215.

rs1488851821 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:126482446 (GRCh38)
3:126201289 (GRCh37)
Canonical SPDI:: NC_000003.12:126482445:C:A
Gene:: UROC1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000066/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000223/1 (Estonian)
HGVS:: NC_000003.12:g.126482446C>A, NC_000003.11:g.126201289C>A, NG_016286.1:g.40306G>T, NM_144639.3:c.1930G>T, NM_144639.2:c.1930G>T, NM_001165974.2:c.2110G>T, NM_001165974.1:c.2110G>T, NP_653240.1:p.Glu644Ter, NP_001159446.1:p.Glu704Ter

Select item 14875533456.

rs1487553345 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:126504036 (GRCh38)
3:126222879 (GRCh37)
Canonical SPDI:: NC_000003.12:126504035:C:T
Gene:: UROC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.126504036C>T, NC_000003.11:g.126222879C>T, NG_016286.1:g.18716G>A, NM_144639.3:c.861G>A, NM_144639.2:c.861G>A, NM_001165974.2:c.861G>A, NM_001165974.1:c.861G>A, NP_653240.1:p.Met287Ile, NP_001159446.1:p.Met287Ile

Select item 14858151497.

rs1485815149 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:126483378 (GRCh38)
3:126202221 (GRCh37)
Canonical SPDI:: NC_000003.12:126483377:G:T
Gene:: UROC1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.126483378G>T, NC_000003.11:g.126202221G>T, NG_016286.1:g.39374C>A, NM_144639.3:c.1881C>A, NM_144639.2:c.1881C>A, NM_001165974.2:c.2061C>A, NM_001165974.1:c.2061C>A

Select item 14856650518.

rs1485665051 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:126498106 (GRCh38)
3:126216949 (GRCh37)
Canonical SPDI:: NC_000003.12:126498105:C:G
Gene:: UROC1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.126498106C>G, NC_000003.11:g.126216949C>G, NG_016286.1:g.24646G>C, NM_144639.3:c.1383G>C, NM_144639.2:c.1383G>C, NM_001165974.2:c.1563G>C, NM_001165974.1:c.1563G>C

Select item 14846153379.

rs1484615337 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:126517681 (GRCh38)
3:126236524 (GRCh37)
Canonical SPDI:: NC_000003.12:126517680:C:A
Gene:: UROC1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.126517681C>A, NC_000003.11:g.126236524C>A, NG_016286.1:g.5071G>T, NM_144639.3:c.39G>T, NM_144639.2:c.39G>T, NM_001165974.2:c.39G>T, NM_001165974.1:c.39G>T

Select item 147985922310.

rs1479859223 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:126500088 (GRCh38)
3:126218931 (GRCh37)
Canonical SPDI:: NC_000003.12:126500087:G:C
Gene:: UROC1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000003.12:g.126500088G>C, NC_000003.11:g.126218931G>C, NG_016286.1:g.22664C>G, NM_144639.3:c.1212C>G, NM_144639.2:c.1212C>G, NM_001165974.2:c.1392C>G, NM_001165974.1:c.1392C>G

Select item 147922471911.

rs1479224719 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:126492472 (GRCh38)
3:126211315 (GRCh37)
Canonical SPDI:: NC_000003.12:126492471:G:T
Gene:: UROC1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.126492472G>T, NC_000003.11:g.126211315G>T, NG_016286.1:g.30280C>A, NM_144639.3:c.1554C>A, NM_144639.2:c.1554C>A, NM_001165974.2:c.1734C>A, NM_001165974.1:c.1734C>A

Select item 147583522112.

rs1475835221 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:126507764 (GRCh38)
3:126226607 (GRCh37)
Canonical SPDI:: NC_000003.12:126507763:G:T
Gene:: UROC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.126507764G>T, NC_000003.11:g.126226607G>T, NG_016286.1:g.14988C>A, NM_144639.3:c.580C>A, NM_144639.2:c.580C>A, NM_001165974.2:c.580C>A, NM_001165974.1:c.580C>A, NP_653240.1:p.Leu194Ile, NP_001159446.1:p.Leu194Ile

Select item 147506596813.

rs1475065968 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 3:126508460 (GRCh38)
3:126227303 (GRCh37)
Canonical SPDI:: NC_000003.12:126508459:C:A,NC_000003.12:126508459:C:G
Gene:: UROC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000003.12:g.126508460C>A, NC_000003.12:g.126508460C>G, NC_000003.11:g.126227303C>A, NC_000003.11:g.126227303C>G, NG_016286.1:g.14292G>T, NG_016286.1:g.14292G>C, NM_144639.3:c.367G>T, NM_144639.3:c.367G>C, NM_144639.2:c.367G>T, NM_144639.2:c.367G>C, NM_001165974.2:c.367G>T, NM_001165974.2:c.367G>C, NM_001165974.1:c.367G>T, NM_001165974.1:c.367G>C, NP_653240.1:p.Val123Leu, NP_653240.1:p.Val123Leu, NP_001159446.1:p.Val123Leu, NP_001159446.1:p.Val123Leu

Select item 147478599014.

rs1474785990 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:126517686 (GRCh38)
3:126236529 (GRCh37)
Canonical SPDI:: NC_000003.12:126517685:G:T
Gene:: UROC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000003.12:g.126517686G>T, NC_000003.11:g.126236529G>T, NG_016286.1:g.5066C>A, NM_144639.3:c.34C>A, NM_144639.2:c.34C>A, NM_001165974.2:c.34C>A, NM_001165974.1:c.34C>A, NP_653240.1:p.Pro12Thr, NP_001159446.1:p.Pro12Thr

Select item 147420058215.

rs1474200582 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:126517634 (GRCh38)
3:126236477 (GRCh37)
Canonical SPDI:: NC_000003.12:126517633:G:T
Gene:: UROC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.126517634G>T, NC_000003.11:g.126236477G>T, NG_016286.1:g.5118C>A, NM_144639.3:c.86C>A, NM_144639.2:c.86C>A, NM_001165974.2:c.86C>A, NM_001165974.1:c.86C>A, NP_653240.1:p.Ala29Asp, NP_001159446.1:p.Ala29Asp

Select item 146595735816.

rs1465957358 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:126488249 (GRCh38)
3:126207092 (GRCh37)
Canonical SPDI:: NC_000003.12:126488248:G:T
Gene:: UROC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.126488249G>T, NC_000003.11:g.126207092G>T, NG_016286.1:g.34503C>A, NM_144639.3:c.1739C>A, NM_144639.2:c.1739C>A, NM_001165974.2:c.1919C>A, NM_001165974.1:c.1919C>A, NP_653240.1:p.Ala580Asp, NP_001159446.1:p.Ala640Asp

Select item 146497038917.

rs1464970389 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 3:126517630 (GRCh38)
3:126236473 (GRCh37)
Canonical SPDI:: NC_000003.12:126517629:A:C,NC_000003.12:126517629:A:T
Gene:: UROC1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.126517630A>C, NC_000003.12:g.126517630A>T, NC_000003.11:g.126236473A>C, NC_000003.11:g.126236473A>T, NG_016286.1:g.5122T>G, NG_016286.1:g.5122T>A, NM_144639.3:c.90T>G, NM_144639.3:c.90T>A, NM_144639.2:c.90T>G, NM_144639.2:c.90T>A, NM_001165974.2:c.90T>G, NM_001165974.2:c.90T>A, NM_001165974.1:c.90T>G, NM_001165974.1:c.90T>A

Select item 146327986318.

rs1463279863 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:126498168 (GRCh38)
3:126217011 (GRCh37)
Canonical SPDI:: NC_000003.12:126498167:T:C
Gene:: UROC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.126498168T>C, NC_000003.11:g.126217011T>C, NG_016286.1:g.24584A>G, NM_144639.3:c.1321A>G, NM_144639.2:c.1321A>G, NM_001165974.2:c.1501A>G, NM_001165974.1:c.1501A>G, NP_653240.1:p.Ile441Val, NP_001159446.1:p.Ile501Val

Select item 146140677519.

rs1461406775 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:126509620 (GRCh38)
3:126228463 (GRCh37)
Canonical SPDI:: NC_000003.12:126509619:T:C
Gene:: UROC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000006/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.126509620T>C, NC_000003.11:g.126228463T>C, NG_016286.1:g.13132A>G, NM_144639.3:c.316A>G, NM_144639.2:c.316A>G, NM_001165974.2:c.316A>G, NM_001165974.1:c.316A>G, NP_653240.1:p.Met106Val, NP_001159446.1:p.Met106Val

Select item 145817558620.

rs1458175586 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:126500700 (GRCh38)
3:126219543 (GRCh37)
Canonical SPDI:: NC_000003.12:126500699:C:G
Gene:: UROC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000051/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.126500700C>G, NC_000003.11:g.126219543C>G, NG_016286.1:g.22052G>C, NM_144639.3:c.1140G>C, NM_144639.2:c.1140G>C, NM_001165974.2:c.1320G>C, NM_001165974.1:c.1320G>C, NP_653240.1:p.Gln380His, NP_001159446.1:p.Gln440His

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