SNP Links for Protein (Select 19923883) - SNP

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Links from Protein

Items: 1 to 20 of 314

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Select item 14850719881.

rs1485071988 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:240133989 (GRCh38)
2:241073406 (GRCh37)
Canonical SPDI:: NC_000002.12:240133988:C:A
Gene:: COPS9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.240133989C>A, NC_000002.11:g.241073406C>A, XM_017003411.2:c.80G>T, XM_017003411.1:c.143G>T, NM_001163424.2:c.80G>T, NM_001163424.1:c.80G>T, NM_138336.1:c.173G>T, XP_016858900.2:p.Gly27Val, NP_001156896.1:p.Gly27Val, NP_612209.1:p.Gly58Val

Select item 14740749862.

rs1474074986 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:240130017 (GRCh38)
2:241069434 (GRCh37)
Canonical SPDI:: NC_000002.12:240130016:A:T
Gene:: COPS9 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.0001/1 (ALFA)
HGVS:: NC_000002.12:g.240130017A>T, NC_000002.11:g.241069434A>T, XM_017003411.2:c.182T>A, XM_017003411.1:c.245T>A, NM_138336.1:c.275T>A, XP_016858900.2:p.Leu61Gln, NP_612209.1:p.Leu92Gln

Select item 14706337433.

rs1470633743 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:240126728 (GRCh38)
2:241066145 (GRCh37)
Canonical SPDI:: NC_000002.12:240126727:T:C
Gene:: COPS9 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.240126728T>C, NC_000002.11:g.241066145T>C, XM_017003411.2:c.501A>G, XM_017003411.1:c.564A>G, NM_138336.1:c.594A>G

Select item 14680997084.

rs1468099708 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:240126935 (GRCh38)
2:241066352 (GRCh37)
Canonical SPDI:: NC_000002.12:240126934:A:G
Gene:: COPS9 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0.000066/2 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.240126935A>G, NC_000002.11:g.241066352A>G, XM_017003411.2:c.294T>C, XM_017003411.1:c.357T>C, NM_138336.1:c.387T>C

Select item 14624346095.

rs1462434609 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:240129992 (GRCh38)
2:241069409 (GRCh37)
Canonical SPDI:: NC_000002.12:240129991:G:A
Gene:: COPS9 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.240129992G>A, NC_000002.11:g.241069409G>A, XM_017003411.2:c.207C>T, XM_017003411.1:c.270C>T, NM_138336.1:c.300C>T

Select item 14597848896.

rs1459784889 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:240126613 (GRCh38)
2:241066030 (GRCh37)
Canonical SPDI:: NC_000002.12:240126612:C:T
Gene:: COPS9 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000002.12:g.240126613C>T, NC_000002.11:g.241066030C>T, XM_017003411.2:c.616G>A, XM_017003411.1:c.679G>A, NM_138336.1:c.709G>A, XP_016858900.2:p.Gly206Ser, NP_612209.1:p.Gly237Ser

Select item 14585689217.

rs1458568921 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:240126892 (GRCh38)
2:241066309 (GRCh37)
Canonical SPDI:: NC_000002.12:240126891:C:A
Gene:: COPS9 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.240126892C>A, NC_000002.11:g.241066309C>A, XM_017003411.2:c.337G>T, XM_017003411.1:c.400G>T, NM_138336.1:c.430G>T, XP_016858900.2:p.Gly113Trp, NP_612209.1:p.Gly144Trp

Select item 14573351058.

rs1457335105 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:240133946 (GRCh38)
2:241073363 (GRCh37)
Canonical SPDI:: NC_000002.12:240133945:T:A
Gene:: COPS9 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.240133946T>A, NC_000002.11:g.241073363T>A, XM_017003411.2:c.123A>T, XM_017003411.1:c.186A>T, NM_001163424.2:c.123A>T, NM_001163424.1:c.123A>T, NM_138336.1:c.216A>T

Select item 14496960519.

rs1449696051 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:240133993 (GRCh38)
2:241073410 (GRCh37)
Canonical SPDI:: NC_000002.12:240133992:T:C
Gene:: COPS9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.240133993T>C, NC_000002.11:g.241073410T>C, XM_017003411.2:c.76A>G, XM_017003411.1:c.139A>G, NM_001163424.2:c.76A>G, NM_001163424.1:c.76A>G, NM_138336.1:c.169A>G, XP_016858900.2:p.Thr26Ala, NP_001156896.1:p.Thr26Ala, NP_612209.1:p.Thr57Ala

Select item 144529317110.

rs1445293171 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:240129962 (GRCh38)
2:241069379 (GRCh37)
Canonical SPDI:: NC_000002.12:240129961:C:T
Gene:: COPS9 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000066/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.240129962C>T, NC_000002.11:g.241069379C>T, XM_017003411.2:c.237G>A, XM_017003411.1:c.300G>A, NM_138336.1:c.330G>A

Select item 144361582311.

rs1443615823 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:240133985 (GRCh38)
2:241073402 (GRCh37)
Canonical SPDI:: NC_000002.12:240133984:G:A
Gene:: COPS9 (Varview)
Functional Consequence:: synonymous_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_000002.12:g.240133985G>A, NC_000002.11:g.241073402G>A, XM_017003411.2:c.84C>T, XM_017003411.1:c.147C>T, NM_001163424.2:c.84C>T, NM_001163424.1:c.84C>T, NM_138336.1:c.177C>T

Select item 143758963812.

rs1437589638 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:240126859 (GRCh38)
2:241066276 (GRCh37)
Canonical SPDI:: NC_000002.12:240126858:G:C
Gene:: COPS9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.240126859G>C, NC_000002.11:g.241066276G>C, XM_017003411.2:c.370C>G, XM_017003411.1:c.433C>G, NM_138336.1:c.463C>G, XP_016858900.2:p.Leu124Val, NP_612209.1:p.Leu155Val

Select item 142773510713.

rs1427735107 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:240126768 (GRCh38)
2:241066185 (GRCh37)
Canonical SPDI:: NC_000002.12:240126767:C:T
Gene:: COPS9 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.240126768C>T, NC_000002.11:g.241066185C>T, XM_017003411.2:c.461G>A, XM_017003411.1:c.524G>A, NM_138336.1:c.554G>A, XP_016858900.2:p.Ser154Asn, NP_612209.1:p.Ser185Asn

Select item 142704444114.

rs1427044441 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 2:240126769 (GRCh38)
2:241066186 (GRCh37)
Canonical SPDI:: NC_000002.12:240126768:T:A,NC_000002.12:240126768:T:C
Gene:: COPS9 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.240126769T>A, NC_000002.12:g.240126769T>C, NC_000002.11:g.241066186T>A, NC_000002.11:g.241066186T>C, XM_017003411.2:c.460A>T, XM_017003411.2:c.460A>G, XM_017003411.1:c.523A>T, XM_017003411.1:c.523A>G, NM_138336.1:c.553A>T, NM_138336.1:c.553A>G, XP_016858900.2:p.Ser154Cys, XP_016858900.2:p.Ser154Gly, NP_612209.1:p.Ser185Cys, NP_612209.1:p.Ser185Gly

Select item 142481270615.

rs1424812706 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:240136228 (GRCh38)
2:241075645 (GRCh37)
Canonical SPDI:: NC_000002.12:240136227:C:G
Gene:: COPS9 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.240136228C>G, NC_000002.11:g.241075645C>G, XM_017003411.2:c.57G>C, XM_017003411.1:c.120G>C, NM_001163424.2:c.57G>C, NM_001163424.1:c.57G>C, NM_138336.1:c.120G>C

Select item 142448612816.

rs1424486128 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:240136328 (GRCh38)
2:241075745 (GRCh37)
Canonical SPDI:: NC_000002.12:240136327:G:T
Gene:: COPS9 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.240136328G>T, NC_000002.11:g.241075745G>T, NM_138336.1:c.20C>A, NM_001163424.1:c.-44C>A, NP_612209.1:p.Ala7Glu

Select item 142339212017.

rs1423392120 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:240126837 (GRCh38)
2:241066254 (GRCh37)
Canonical SPDI:: NC_000002.12:240126836:T:G
Gene:: COPS9 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.240126837T>G, NC_000002.11:g.241066254T>G, XM_017003411.2:c.392A>C, XM_017003411.1:c.455A>C, NM_138336.1:c.485A>C, XP_016858900.2:p.Glu131Ala, NP_612209.1:p.Glu162Ala

Select item 142271052318.

rs1422710523 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:240126628 (GRCh38)
2:241066045 (GRCh37)
Canonical SPDI:: NC_000002.12:240126627:T:C
Gene:: COPS9 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,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_000002.12:g.240126628T>C, NC_000002.11:g.241066045T>C, XM_017003411.2:c.601A>G, XM_017003411.1:c.664A>G, NM_138336.1:c.694A>G, XP_016858900.2:p.Thr201Ala, NP_612209.1:p.Thr232Ala