SNP Links for Protein (Select 32880229) - SNP

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Links from Protein

Items: 1 to 20 of 1059

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Select item 14905117781.

rs1490511778 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:50215763 (GRCh38)
22:50654192 (GRCh37)
Canonical SPDI:: NC_000022.11:50215762:G:A
Gene:: SELENOO (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.50215763G>A, NC_000022.10:g.50654192G>A, NG_032160.1:g.34209C>T, NM_031454.2:c.1398G>A, NM_031454.1:c.1398G>A

Select item 14901988712.

rs1490198871 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:50216849 (GRCh38)
22:50655278 (GRCh37)
Canonical SPDI:: NC_000022.11:50216848:A:G
Gene:: SELENOO (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.50216849A>G, NC_000022.10:g.50655278A>G, NG_032160.1:g.33123T>C, NM_031454.2:c.1661A>G, NM_031454.1:c.1661A>G, NP_113642.1:p.His554Arg

Select item 14898660813.

rs1489866081 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:50201233 (GRCh38)
22:50639662 (GRCh37)
Canonical SPDI:: NC_000022.11:50201232:G:C
Gene:: SELENOO (Varview), LOC124905148 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000015/2 (GnomAD)
HGVS:: NC_000022.11:g.50201233G>C, NC_000022.10:g.50639662G>C, NM_031454.2:c.197G>C, NM_031454.1:c.197G>C, NP_113642.1:p.Gly66Ala

Select item 14893766614.

rs1489376661 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:50215764 (GRCh38)
22:50654193 (GRCh37)
Canonical SPDI:: NC_000022.11:50215763:G:A
Gene:: SELENOO (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000022.11:g.50215764G>A, NC_000022.10:g.50654193G>A, NG_032160.1:g.34208C>T, NM_031454.2:c.1399G>A, NM_031454.1:c.1399G>A, NP_113642.1:p.Glu467Lys

Select item 14893251525.

rs1489325152 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:50201132 (GRCh38)
22:50639561 (GRCh37)
Canonical SPDI:: NC_000022.11:50201131:G:A
Gene:: SELENOO (Varview), LOC124905148 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000026/7 (TOPMED)
HGVS:: NC_000022.11:g.50201132G>A, NC_000022.10:g.50639561G>A, NM_031454.2:c.96G>A, NM_031454.1:c.96G>A

Select item 14876529806.

rs1487652980 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:50206330 (GRCh38)
22:50644759 (GRCh37)
Canonical SPDI:: NC_000022.11:50206329:C:T
Gene:: SELENOO (Varview), SELENOO-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000056/2 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.50206330C>T, NC_000022.10:g.50644759C>T, XR_938352.3:n.3410G>A, XR_938352.2:n.4567G>A, NM_031454.2:c.568C>T, NM_031454.1:c.568C>T, NP_113642.1:p.Arg190Cys

Select item 14856225837.

rs1485622583 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:50206424 (GRCh38)
22:50644853 (GRCh37)
Canonical SPDI:: NC_000022.11:50206423:C:T
Gene:: SELENOO (Varview), SELENOO-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000022.11:g.50206424C>T, NC_000022.10:g.50644853C>T, XR_938352.3:n.3316G>A, XR_938352.2:n.4473G>A, NM_031454.2:c.662C>T, NM_031454.1:c.662C>T, NP_113642.1:p.Thr221Met

Select item 14855910908.

rs1485591090 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 22:50201296 (GRCh38)
22:50639725 (GRCh37)
Canonical SPDI:: NC_000022.11:50201295:C:G,NC_000022.11:50201295:C:T
Gene:: SELENOO (Varview), LOC124905148 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.00003/8 (TOPMED)
G=0.000312/2 (1000Genomes)
HGVS:: NC_000022.11:g.50201296C>G, NC_000022.11:g.50201296C>T, NC_000022.10:g.50639725C>G, NC_000022.10:g.50639725C>T, NM_031454.2:c.260C>G, NM_031454.2:c.260C>T, NM_031454.1:c.260C>G, NM_031454.1:c.260C>T, NP_113642.1:p.Pro87Arg, NP_113642.1:p.Pro87Leu

Select item 14849979089.

rs1484997908 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:50201082 (GRCh38)
22:50639511 (GRCh37)
Canonical SPDI:: NC_000022.11:50201081:C:T
Gene:: SELENOO (Varview), LOC124905148 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,stop_gained
HGVS:: NC_000022.11:g.50201082C>T, NC_000022.10:g.50639511C>T, NM_031454.2:c.46C>T, NM_031454.1:c.46C>T, NP_113642.1:p.Arg16Ter

Select item 148464384510.

rs1484643845 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:50201515 (GRCh38)
22:50639944 (GRCh37)
Canonical SPDI:: NC_000022.11:50201514:T:C
Gene:: SELENOO (Varview), LOC124905148 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
HGVS:: NC_000022.11:g.50201515T>C, NC_000022.10:g.50639944T>C, NM_031454.2:c.479T>C, NM_031454.1:c.479T>C, NP_113642.1:p.Leu160Pro

Select item 148388243811.

rs1483882438 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:50201547 (GRCh38)
22:50639976 (GRCh37)
Canonical SPDI:: NC_000022.11:50201546:T:C
Gene:: SELENOO (Varview), LOC124905148 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000094/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.50201547T>C, NC_000022.10:g.50639976T>C, NM_031454.2:c.511T>C, NM_031454.1:c.511T>C, NP_113642.1:p.Trp171Arg

Select item 148217106612.

rs1482171066 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 22:50217244 (GRCh38)
22:50655673 (GRCh37)
Canonical SPDI:: NC_000022.11:50217243:T:C,NC_000022.11:50217243:T:G
Gene:: SELENOO (Varview), TUBGCP6 (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,missense_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000022.11:g.50217244T>C, NC_000022.11:g.50217244T>G, NC_000022.10:g.50655673T>C, NC_000022.10:g.50655673T>G, NG_032160.1:g.32728A>G, NG_032160.1:g.32728A>C, NM_031454.2:c.1885T>C, NM_031454.2:c.1885T>G, NM_031454.1:c.1885T>C, NM_031454.1:c.1885T>G, NP_113642.1:p.Cys629Arg, NP_113642.1:p.Cys629Gly

Select item 148183773713.

rs1481837737 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:50201160 (GRCh38)
22:50639589 (GRCh37)
Canonical SPDI:: NC_000022.11:50201159:C:A
Gene:: SELENOO (Varview), LOC124905148 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_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_000022.11:g.50201160C>A, NC_000022.10:g.50639589C>A, NM_031454.2:c.124C>A, NM_031454.1:c.124C>A, NP_113642.1:p.Pro42Thr

Select item 147960089214.

rs1479600892 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 22:50201284 (GRCh38)
22:50639713 (GRCh37)
Canonical SPDI:: NC_000022.11:50201283:C:G,NC_000022.11:50201283:C:T
Gene:: SELENOO (Varview), LOC124905148 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000022.11:g.50201284C>G, NC_000022.11:g.50201284C>T, NC_000022.10:g.50639713C>G, NC_000022.10:g.50639713C>T, NM_031454.2:c.248C>G, NM_031454.2:c.248C>T, NM_031454.1:c.248C>G, NM_031454.1:c.248C>T, NP_113642.1:p.Thr83Ser, NP_113642.1:p.Thr83Ile

Select item 147926031415.

rs1479260314 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 22:50217005 (GRCh38)
22:50655434 (GRCh37)
Canonical SPDI:: NC_000022.11:50217004:G:A,NC_000022.11:50217004:G:C
Gene:: SELENOO (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000071/1 (TOMMO)
HGVS:: NC_000022.11:g.50217005G>A, NC_000022.11:g.50217005G>C, NC_000022.10:g.50655434G>A, NC_000022.10:g.50655434G>C, NG_032160.1:g.32967C>T, NG_032160.1:g.32967C>G, NM_031454.2:c.1722G>A, NM_031454.2:c.1722G>C, NM_031454.1:c.1722G>A, NM_031454.1:c.1722G>C

Select item 147657960516.

rs1476579605 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:50210780 (GRCh38)
22:50649209 (GRCh37)
Canonical SPDI:: NC_000022.11:50210779:C:A
Gene:: SELENOO (Varview), SELENOO-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.50210780C>A, NC_000022.10:g.50649209C>A, NM_031454.2:c.1220C>A, NM_031454.1:c.1220C>A, NP_113642.1:p.Ala407Asp

Select item 147585563517.

rs1475855635 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:50201092 (GRCh38)
22:50639521 (GRCh37)
Canonical SPDI:: NC_000022.11:50201091:C:T
Gene:: SELENOO (Varview), LOC124905148 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000022.11:g.50201092C>T, NC_000022.10:g.50639521C>T, NM_031454.2:c.56C>T, NM_031454.1:c.56C>T, NP_113642.1:p.Pro19Leu

Select item 147551045018.

rs1475510450 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:50208706 (GRCh38)
22:50647135 (GRCh37)
Canonical SPDI:: NC_000022.11:50208705:T:C
Gene:: SELENOO (Varview), SELENOO-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.00007/1 (ALFA)
HGVS:: NC_000022.11:g.50208706T>C, NC_000022.10:g.50647135T>C, XR_938352.3:n.1034A>G, XR_938352.2:n.2191A>G, XR_938352.1:n.1027A>G, NM_031454.2:c.929T>C, NM_031454.1:c.929T>C, NP_113642.1:p.Phe310Ser

Select item 147519110419.

rs1475191104 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCCTGCCCG [Show Flanks]
Chromosome:: 22:50201203 (GRCh38)
22:50639633 (GRCh37)
Canonical SPDI:: NC_000022.11:50201203:CGCCCTGCCCG:CGCCCTGCCCGCCCTGCCCG
Gene:: SELENOO (Varview), LOC124905148 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,inframe_insertion
Validated:: by frequency,by alfa,by cluster
MAF:: CGCCCTGCCCGCCCTGCCCG=0./0 (ALFA)
CGCCCTGCC=0.000004/1 (TOPMED)
CGCCCTGCC=0.000015/2 (GnomAD)
HGVS:: NC_000022.11:g.50201206_50201214dup, NC_000022.10:g.50639635_50639643dup, NM_031454.2:c.170_178dup, NM_031454.1:c.170_178dup, NP_113642.1:p.Ala57_Pro59dup

Select item 147420966820.

rs1474209668 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:50201447 (GRCh38)
22:50639876 (GRCh37)
Canonical SPDI:: NC_000022.11:50201446:G:T
Gene:: SELENOO (Varview), LOC124905148 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000034/9 (TOPMED)
HGVS:: NC_000022.11:g.50201447G>T, NC_000022.10:g.50639876G>T, NM_031454.2:c.411G>T, NM_031454.1:c.411G>T