SNP Links for Protein (Select 1034579316) - SNP

Links from Protein

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Select item 14909736841.

rs1490973684 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:52040781 (GRCh38)
12:52434565 (GRCh37)
Canonical SPDI:: NC_000012.12:52040780:C:T
Gene:: NR4A1 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.52040781C>T, NC_000012.11:g.52434565C>T, XM_017019248.2:c.449C>T, XM_017019248.1:c.449C>T, XM_017019249.2:c.449C>T, XM_017019249.1:c.449C>T, XM_047428755.1:c.449C>T, XM_047428756.1:c.-195C>T, XM_047428757.1:c.449C>T, XP_016874737.1:p.Ser150Phe, XP_016874738.1:p.Ser150Phe, XP_047284711.1:p.Ser150Phe, XP_047284713.1:p.Ser150Phe

Select item 14875822452.

rs1487582245 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:52045551 (GRCh38)
12:52439335 (GRCh37)
Canonical SPDI:: NC_000012.12:52045550:T:C
Gene:: NR4A1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.52045551T>C, NC_000012.11:g.52439335T>C, XM_017019248.2:c.1035T>C, XM_017019248.1:c.1035T>C, XM_017019249.2:c.927T>C, XM_017019249.1:c.927T>C

Select item 14868464353.

rs1486846435 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:52045690 (GRCh38)
12:52439474 (GRCh37)
Canonical SPDI:: NC_000012.12:52045689:G:A
Gene:: NR4A1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
HGVS:: NC_000012.12:g.52045690G>A, NC_000012.11:g.52439474G>A, XM_017019248.2:c.1174G>A, XM_017019248.1:c.1174G>A, XM_017019249.2:c.1066G>A, XM_017019249.1:c.1066G>A, XP_016874737.1:p.Ala392Thr, XP_016874738.1:p.Ala356Thr

Select item 14857209774.

rs1485720977 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:52040841 (GRCh38)
12:52434625 (GRCh37)
Canonical SPDI:: NC_000012.12:52040840:G:A
Gene:: NR4A1 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000043/6 (GnomAD)
HGVS:: NC_000012.12:g.52040841G>A, NC_000012.11:g.52434625G>A, XM_017019248.2:c.509G>A, XM_017019248.1:c.509G>A, XM_017019249.2:c.509G>A, XM_017019249.1:c.509G>A, XM_047428755.1:c.509G>A, XM_047428756.1:c.-135G>A, XM_047428757.1:c.509G>A, XP_016874737.1:p.Ser170Asn, XP_016874738.1:p.Ser170Asn, XP_047284711.1:p.Ser170Asn, XP_047284713.1:p.Ser170Asn

Select item 14775695715.

rs1477569571 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:52043871 (GRCh38)
12:52437655 (GRCh37)
Canonical SPDI:: NC_000012.12:52043870:A:C
Gene:: NR4A1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.52043871A>C, NC_000012.11:g.52437655A>C, XM_005268824.4:c.-43A>C, XM_005268824.3:c.-43A>C, XM_005268824.2:c.-43A>C, XM_005268824.1:c.-43A>C, XM_017019248.2:c.923A>C, XM_017019248.1:c.923A>C, XM_017019249.2:c.815A>C, XM_017019249.1:c.815A>C, NM_173158.1:c.-43A>C, XP_016874737.1:p.Asp308Ala, XP_016874738.1:p.Asp272Ala

Select item 14772794606.

rs1477279460 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:52040746 (GRCh38)
12:52434530 (GRCh37)
Canonical SPDI:: NC_000012.12:52040745:G:A
Gene:: NR4A1 (Varview)
Functional Consequence:: stop_gained,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_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_000012.12:g.52040746G>A, NC_000012.11:g.52434530G>A, XM_017019248.2:c.414G>A, XM_017019248.1:c.414G>A, XM_017019249.2:c.414G>A, XM_017019249.1:c.414G>A, XM_047428755.1:c.414G>A, XM_047428756.1:c.-230G>A, XM_047428757.1:c.414G>A, XP_016874737.1:p.Trp138Ter, XP_016874738.1:p.Trp138Ter, XP_047284711.1:p.Trp138Ter, XP_047284713.1:p.Trp138Ter

Select item 14770792697.

rs1477079269 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:52043881 (GRCh38)
12:52437665 (GRCh37)
Canonical SPDI:: NC_000012.12:52043880:A:C
Gene:: NR4A1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,5_prime_UTR_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_000012.12:g.52043881A>C, NC_000012.11:g.52437665A>C, XM_005268824.4:c.-33A>C, XM_005268824.3:c.-33A>C, XM_005268824.2:c.-33A>C, XM_005268824.1:c.-33A>C, XM_017019248.2:c.933A>C, XM_017019248.1:c.933A>C, XM_017019249.2:c.825A>C, XM_017019249.1:c.825A>C, NM_173158.1:c.-33A>C

Select item 14714737138.

rs1471473713 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:52040366 (GRCh38)
12:52434150 (GRCh37)
Canonical SPDI:: NC_000012.12:52040365:A:G
Gene:: NR4A1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000026/7 (TOPMED)
HGVS:: NC_000012.12:g.52040366A>G, NC_000012.11:g.52434150A>G, XM_017019248.2:c.34A>G, XM_017019248.1:c.34A>G, XM_017019249.2:c.34A>G, XM_017019249.1:c.34A>G, XM_047428755.1:c.34A>G, XM_047428756.1:c.-610A>G, XM_047428757.1:c.34A>G, XP_016874737.1:p.Thr12Ala, XP_016874738.1:p.Thr12Ala, XP_047284711.1:p.Thr12Ala, XP_047284713.1:p.Thr12Ala

Select item 14705492419.

rs1470549241 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:52041897 (GRCh38)
12:52435681 (GRCh37)
Canonical SPDI:: NC_000012.12:52041896:G:A
Gene:: NR4A1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000012.12:g.52041897G>A, NC_000012.11:g.52435681G>A, XM_005268822.4:c.182G>A, XM_005268822.3:c.182G>A, XM_005268822.2:c.182G>A, XM_005268822.1:c.182G>A, XM_017019248.2:c.713G>A, XM_017019248.1:c.713G>A, XM_017019249.2:c.713G>A, XM_017019249.1:c.713G>A, NM_001202234.2:c.128G>A, NM_001202234.1:c.128G>A, NM_001202233.2:c.5G>A, NM_001202233.1:c.5G>A, XM_047428755.1:c.713G>A, XM_047428756.1:c.5G>A, XM_047428757.1:c.713G>A, XP_005268879.1:p.Trp61Ter, XP_016874737.1:p.Trp238Ter, XP_016874738.1:p.Trp238Ter, NP_001189163.1:p.Trp43Ter, NP_001189162.1:p.Trp2Ter, XP_047284711.1:p.Trp238Ter, XP_047284712.1:p.Trp2Ter, XP_047284713.1:p.Trp238Ter

Select item 146145546710.

rs1461455467 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTCC>- [Show Flanks]
Chromosome:: 12:52040593 (GRCh38)
12:52434377 (GRCh37)
Canonical SPDI:: NC_000012.12:52040590:CCTTCC:CC
Gene:: NR4A1 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,frameshift_variant,coding_sequence_variant,genic_upstream_transcript_variant
HGVS:: NC_000012.12:g.52040593_52040596del, NC_000012.11:g.52434377_52434380del, XM_017019248.2:c.261_264del, XM_017019248.1:c.261_264del, XM_017019249.2:c.261_264del, XM_017019249.1:c.261_264del, XM_047428755.1:c.261_264del, XM_047428756.1:c.-383_-380del, XM_047428757.1:c.261_264del, XP_016874737.1:p.Leu90fs, XP_016874738.1:p.Leu90fs, XP_047284711.1:p.Leu90fs, XP_047284713.1:p.Leu90fs

Select item 145981599411.

rs1459815994 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:52041908 (GRCh38)
12:52435692 (GRCh37)
Canonical SPDI:: NC_000012.12:52041907:G:A
Gene:: NR4A1 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.52041908G>A, NC_000012.11:g.52435692G>A, XM_005268822.4:c.193G>A, XM_005268822.3:c.193G>A, XM_005268822.2:c.193G>A, XM_005268822.1:c.193G>A, XM_017019248.2:c.724G>A, XM_017019248.1:c.724G>A, XM_017019249.2:c.724G>A, XM_017019249.1:c.724G>A, NM_001202234.2:c.139G>A, NM_001202234.1:c.139G>A, NM_001202233.2:c.16G>A, NM_001202233.1:c.16G>A, XM_047428755.1:c.724G>A, XM_047428756.1:c.16G>A, XM_047428757.1:c.724G>A, XP_005268879.1:p.Ala65Thr, XP_016874737.1:p.Ala242Thr, XP_016874738.1:p.Ala242Thr, NP_001189163.1:p.Ala47Thr, NP_001189162.1:p.Ala6Thr, XP_047284711.1:p.Ala242Thr, XP_047284712.1:p.Ala6Thr, XP_047284713.1:p.Ala242Thr

Select item 144730764012.

rs1447307640 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:52043859 (GRCh38)
12:52437643 (GRCh37)
Canonical SPDI:: NC_000012.12:52043858:C:T
Gene:: NR4A1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000016/2 (GnomAD_exomes)
T=0.000034/9 (TOPMED)
HGVS:: NC_000012.12:g.52043859C>T, NC_000012.11:g.52437643C>T, XM_005268824.4:c.-55C>T, XM_005268824.3:c.-55C>T, XM_005268824.2:c.-55C>T, XM_005268824.1:c.-55C>T, XM_017019248.2:c.911C>T, XM_017019248.1:c.911C>T, XM_017019249.2:c.803C>T, XM_017019249.1:c.803C>T, NM_173158.1:c.-55C>T, XP_016874737.1:p.Ala304Val, XP_016874738.1:p.Ala268Val

Select item 144635127713.

rs1446351277 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:52041916 (GRCh38)
12:52435700 (GRCh37)
Canonical SPDI:: NC_000012.12:52041915:G:T
Gene:: NR4A1 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.52041916G>T, NC_000012.11:g.52435700G>T, XM_005268822.4:c.201G>T, XM_005268822.3:c.201G>T, XM_005268822.2:c.201G>T, XM_005268822.1:c.201G>T, XM_017019248.2:c.732G>T, XM_017019248.1:c.732G>T, XM_017019249.2:c.732G>T, XM_017019249.1:c.732G>T, NM_001202234.2:c.147G>T, NM_001202234.1:c.147G>T, NM_001202233.2:c.24G>T, NM_001202233.1:c.24G>T, XM_047428755.1:c.732G>T, XM_047428756.1:c.24G>T, XM_047428757.1:c.732G>T, XP_005268879.1:p.Trp67Cys, XP_016874737.1:p.Trp244Cys, XP_016874738.1:p.Trp244Cys, NP_001189163.1:p.Trp49Cys, NP_001189162.1:p.Trp8Cys, XP_047284711.1:p.Trp244Cys, XP_047284712.1:p.Trp8Cys, XP_047284713.1:p.Trp244Cys

Select item 144616627414.

rs1446166274 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 12:52041899 (GRCh38)
12:52435683 (GRCh37)
Canonical SPDI:: NC_000012.12:52041898:TT:T
Gene:: NR4A1 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,frameshift_variant
HGVS:: NC_000012.12:g.52041900del, NC_000012.11:g.52435684del, XM_005268822.4:c.185del, XM_005268822.3:c.185del, XM_005268822.2:c.185del, XM_005268822.1:c.185del, XM_017019248.2:c.716del, XM_017019248.1:c.716del, XM_017019249.2:c.716del, XM_017019249.1:c.716del, NM_001202234.2:c.131del, NM_001202234.1:c.131del, NM_001202233.2:c.8del, NM_001202233.1:c.8del, XM_047428755.1:c.716del, XM_047428756.1:c.8del, XM_047428757.1:c.716del, XP_005268879.1:p.Leu62fs, XP_016874737.1:p.Leu239fs, XP_016874738.1:p.Leu239fs, NP_001189163.1:p.Leu44fs, NP_001189162.1:p.Leu3fs, XP_047284711.1:p.Leu239fs, XP_047284712.1:p.Leu3fs, XP_047284713.1:p.Leu239fs

Select item 144554790615.

rs1445547906 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:52045609 (GRCh38)
12:52439393 (GRCh37)
Canonical SPDI:: NC_000012.12:52045608:A:G
Gene:: NR4A1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,missense_variant
HGVS:: NC_000012.12:g.52045609A>G, NC_000012.11:g.52439393A>G, XM_017019248.2:c.1093A>G, XM_017019248.1:c.1093A>G, XM_017019249.2:c.985A>G, XM_017019249.1:c.985A>G, XP_016874737.1:p.Lys365Glu, XP_016874738.1:p.Lys329Glu

Select item 144200581716.

rs1442005817 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:52040927 (GRCh38)
12:52434711 (GRCh37)
Canonical SPDI:: NC_000012.12:52040926:T:C
Gene:: NR4A1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,missense_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_000012.12:g.52040927T>C, NC_000012.11:g.52434711T>C, XM_017019248.2:c.595T>C, XM_017019248.1:c.595T>C, XM_017019249.2:c.595T>C, XM_017019249.1:c.595T>C, XM_047428755.1:c.595T>C, XM_047428757.1:c.595T>C, XP_016874737.1:p.Trp199Arg, XP_016874738.1:p.Trp199Arg, XP_047284711.1:p.Trp199Arg, XP_047284713.1:p.Trp199Arg

Select item 144181413917.

rs1441814139 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 12:52045579 (GRCh38)
12:52439363 (GRCh37)
Canonical SPDI:: NC_000012.12:52045578:CC:C
Gene:: NR4A1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000008/1 (GnomAD_exomes)
-=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.52045580del, NC_000012.11:g.52439364del, XM_017019248.2:c.1064del, XM_017019248.1:c.1064del, XM_017019249.2:c.956del, XM_017019249.1:c.956del, XP_016874737.1:p.Pro355fs, XP_016874738.1:p.Pro319fs

Select item 144056956018.

rs1440569560 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:52043817 (GRCh38)
12:52437601 (GRCh37)
Canonical SPDI:: NC_000012.12:52043816:C:G,NC_000012.12:52043816:C:T
Gene:: NR4A1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.00004/1 (TOMMO)
HGVS:: NC_000012.12:g.52043817C>G, NC_000012.12:g.52043817C>T, NC_000012.11:g.52437601C>G, NC_000012.11:g.52437601C>T, XM_005268824.4:c.-97C>G, XM_005268824.4:c.-97C>T, XM_005268824.3:c.-97C>G, XM_005268824.3:c.-97C>T, XM_005268824.2:c.-97C>G, XM_005268824.2:c.-97C>T, XM_005268824.1:c.-97C>G, XM_005268824.1:c.-97C>T, XM_017019248.2:c.869C>G, XM_017019248.2:c.869C>T, XM_017019248.1:c.869C>G, XM_017019248.1:c.869C>T, XM_017019249.2:c.761C>G, XM_017019249.2:c.761C>T, XM_017019249.1:c.761C>G, XM_017019249.1:c.761C>T, NM_173158.1:c.-97C>G, NM_173158.1:c.-97C>T, XP_016874737.1:p.Thr290Ser, XP_016874737.1:p.Thr290Ile, XP_016874738.1:p.Thr254Ser, XP_016874738.1:p.Thr254Ile

Select item 142850969519.

rs1428509695 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:52040732 (GRCh38)
12:52434516 (GRCh37)
Canonical SPDI:: NC_000012.12:52040731:G:A
Gene:: NR4A1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.52040732G>A, NC_000012.11:g.52434516G>A, XM_017019248.2:c.400G>A, XM_017019248.1:c.400G>A, XM_017019249.2:c.400G>A, XM_017019249.1:c.400G>A, XM_047428755.1:c.400G>A, XM_047428756.1:c.-244G>A, XM_047428757.1:c.400G>A, XP_016874737.1:p.Ala134Thr, XP_016874738.1:p.Ala134Thr, XP_047284711.1:p.Ala134Thr, XP_047284713.1:p.Ala134Thr

Select item 142650484320.

rs1426504843 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:52041827 (GRCh38)
12:52435611 (GRCh37)
Canonical SPDI:: NC_000012.12:52041826:A:C
Gene:: NR4A1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.52041827A>C, NC_000012.11:g.52435611A>C, XM_005268822.4:c.112A>C, XM_005268822.3:c.112A>C, XM_005268822.2:c.112A>C, XM_005268822.1:c.112A>C, XM_017019248.2:c.643A>C, XM_017019248.1:c.643A>C, XM_017019249.2:c.643A>C, XM_017019249.1:c.643A>C, NM_001202234.2:c.58A>C, NM_001202234.1:c.58A>C, NM_001202233.2:c.-66A>C, NM_001202233.1:c.-66A>C, XM_047428755.1:c.643A>C, XM_047428756.1:c.-66A>C, XM_047428757.1:c.643A>C

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