SNP Links for Protein (Select 31881630) - SNP

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Links from Protein

Items: 1 to 20 of 405

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Select item 14861212921.

rs1486121292 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 14:52315278 (GRCh38)
14:52781996 (GRCh37)
Canonical SPDI:: NC_000014.9:52315277:G:A,NC_000014.9:52315277:G:T
Gene:: PTGER2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.52315278G>A, NC_000014.9:g.52315278G>T, NC_000014.8:g.52781996G>A, NC_000014.8:g.52781996G>T, NG_013082.1:g.5981G>A, NG_013082.1:g.5981G>T, NM_000956.4:c.730G>A, NM_000956.4:c.730G>T, NM_000956.3:c.730G>A, NM_000956.3:c.730G>T, NP_000947.2:p.Gly244Ser, NP_000947.2:p.Gly244Cys

Select item 14844149522.

rs1484414952 [Homo sapiens]

Variant type:: INS
Alleles:: ->ACATCATCA [Show Flanks]
Chromosome:: 14:52314798 (GRCh38)
14:52781517 (GRCh37)
Canonical SPDI:: NC_000014.9:52314798::ACATCATCA
Gene:: PTGER2 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_indel
Validated:: by frequency,by alfa,by cluster
MAF:: ACATCATCA=0./0 (ALFA)
ACATCATCA=0.000004/1 (GnomAD_exomes)
ACATCATCA=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.52314798_52314799insACATCATCA, NC_000014.8:g.52781516_52781517insACATCATCA, NG_013082.1:g.5501_5502insACATCATCA, NM_000956.4:c.250_251insACATCATCA, NM_000956.3:c.250_251insACATCATCA, NP_000947.2:p.Leu84delinsHisIleIleIle

Select item 14823080863.

rs1482308086 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:52327352 (GRCh38)
14:52794070 (GRCh37)
Canonical SPDI:: NC_000014.9:52327351:A:G
Gene:: PTGER2 (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)
HGVS:: NC_000014.9:g.52327352A>G, NC_000014.8:g.52794070A>G, NG_013082.1:g.18055A>G, NM_000956.4:c.975A>G, NM_000956.3:c.975A>G

Select item 14756825894.

rs1475682589 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:52315000 (GRCh38)
14:52781718 (GRCh37)
Canonical SPDI:: NC_000014.9:52314999:C:T
Gene:: PTGER2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.52315000C>T, NC_000014.8:g.52781718C>T, NG_013082.1:g.5703C>T, NM_000956.4:c.452C>T, NM_000956.3:c.452C>T, NP_000947.2:p.Ser151Phe

Select item 14750092285.

rs1475009228 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 14:52314722 (GRCh38)
14:52781440 (GRCh37)
Canonical SPDI:: NC_000014.9:52314721:C:G,NC_000014.9:52314721:C:T
Gene:: PTGER2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.52314722C>G, NC_000014.9:g.52314722C>T, NC_000014.8:g.52781440C>G, NC_000014.8:g.52781440C>T, NG_013082.1:g.5425C>G, NG_013082.1:g.5425C>T, NM_000956.4:c.174C>G, NM_000956.4:c.174C>T, NM_000956.3:c.174C>G, NM_000956.3:c.174C>T

Select item 14749711566.

rs1474971156 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 14:52315071 (GRCh38)
14:52781789 (GRCh37)
Canonical SPDI:: NC_000014.9:52315070:T:A,NC_000014.9:52315070:T:C
Gene:: PTGER2 (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=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.52315071T>A, NC_000014.9:g.52315071T>C, NC_000014.8:g.52781789T>A, NC_000014.8:g.52781789T>C, NG_013082.1:g.5774T>A, NG_013082.1:g.5774T>C, NM_000956.4:c.523T>A, NM_000956.4:c.523T>C, NM_000956.3:c.523T>A, NM_000956.3:c.523T>C, NP_000947.2:p.Tyr175Asn, NP_000947.2:p.Tyr175His

Select item 14699693207.

rs1469969320 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 14:52314881 (GRCh38)
14:52781599 (GRCh37)
Canonical SPDI:: NC_000014.9:52314880:C:A,NC_000014.9:52314880:C:T
Gene:: PTGER2 (Varview)
Functional Consequence:: synonymous_variant,stop_gained,coding_sequence_variant
HGVS:: NC_000014.9:g.52314881C>A, NC_000014.9:g.52314881C>T, NC_000014.8:g.52781599C>A, NC_000014.8:g.52781599C>T, NG_013082.1:g.5584C>A, NG_013082.1:g.5584C>T, NM_000956.4:c.333C>A, NM_000956.4:c.333C>T, NM_000956.3:c.333C>A, NM_000956.3:c.333C>T, NP_000947.2:p.Tyr111Ter

Select item 14699400888.

rs1469940088 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 14:52314667 (GRCh38)
14:52781385 (GRCh37)
Canonical SPDI:: NC_000014.9:52314666:T:A
Gene:: PTGER2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.52314667T>A, NC_000014.8:g.52781385T>A, NG_013082.1:g.5370T>A, NM_000956.4:c.119T>A, NM_000956.3:c.119T>A, NP_000947.2:p.Leu40His

Select item 14670288199.

rs1467028819 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:52315051 (GRCh38)
14:52781769 (GRCh37)
Canonical SPDI:: NC_000014.9:52315050:G:A
Gene:: PTGER2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.52315051G>A, NC_000014.8:g.52781769G>A, NG_013082.1:g.5754G>A, NM_000956.4:c.503G>A, NM_000956.3:c.503G>A, NP_000947.2:p.Cys168Tyr

Select item 146516414710.

rs1465164147 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:52314712 (GRCh38)
14:52781430 (GRCh37)
Canonical SPDI:: NC_000014.9:52314711:G:A
Gene:: PTGER2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000014.9:g.52314712G>A, NC_000014.8:g.52781430G>A, NG_013082.1:g.5415G>A, NM_000956.4:c.164G>A, NM_000956.3:c.164G>A, NP_000947.2:p.Gly55Glu

Select item 146334936711.

rs1463349367 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 14:52315286 (GRCh38)
14:52782004 (GRCh37)
Canonical SPDI:: NC_000014.9:52315285:G:A,NC_000014.9:52315285:G:C
Gene:: PTGER2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
C=0.000035/1 (TOMMO)
HGVS:: NC_000014.9:g.52315286G>A, NC_000014.9:g.52315286G>C, NC_000014.8:g.52782004G>A, NC_000014.8:g.52782004G>C, NG_013082.1:g.5989G>A, NG_013082.1:g.5989G>C, NM_000956.4:c.738G>A, NM_000956.4:c.738G>C, NM_000956.3:c.738G>A, NM_000956.3:c.738G>C

Select item 146038551012.

rs1460385510 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:52327302 (GRCh38)
14:52794020 (GRCh37)
Canonical SPDI:: NC_000014.9:52327301:A:G
Gene:: PTGER2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.52327302A>G, NC_000014.8:g.52794020A>G, NG_013082.1:g.18005A>G, NM_000956.4:c.925A>G, NM_000956.3:c.925A>G, NP_000947.2:p.Ile309Val

Select item 145979735313.

rs1459797353 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:52314839 (GRCh38)
14:52781557 (GRCh37)
Canonical SPDI:: NC_000014.9:52314838:G:A
Gene:: PTGER2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.52314839G>A, NC_000014.8:g.52781557G>A, NG_013082.1:g.5542G>A, NM_000956.4:c.291G>A, NM_000956.3:c.291G>A

Select item 145888707614.

rs1458887076 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:52315181 (GRCh38)
14:52781899 (GRCh37)
Canonical SPDI:: NC_000014.9:52315180:G:A
Gene:: PTGER2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.52315181G>A, NC_000014.8:g.52781899G>A, NG_013082.1:g.5884G>A, NM_000956.4:c.633G>A, NM_000956.3:c.633G>A

Select item 145739034915.

rs1457390349 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGT>- [Show Flanks]
Chromosome:: 14:52327371 (GRCh38)
14:52794089 (GRCh37)
Canonical SPDI:: NC_000014.9:52327367:TGTTGT:TGT
Gene:: PTGER2 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.52327368TGT[1], NC_000014.8:g.52794086TGT[1], NG_013082.1:g.18071TGT[1], NM_000956.4:c.991TGT[1], NM_000956.3:c.991TGT[1], NP_000947.2:p.Cys332del

Select item 145315938916.

rs1453159389 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:52314941 (GRCh38)
14:52781659 (GRCh37)
Canonical SPDI:: NC_000014.9:52314940:C:T
Gene:: PTGER2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.52314941C>T, NC_000014.8:g.52781659C>T, NG_013082.1:g.5644C>T, NM_000956.4:c.393C>T, NM_000956.3:c.393C>T

Select item 145175462117.

rs1451754621 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:52314934 (GRCh38)
14:52781652 (GRCh37)
Canonical SPDI:: NC_000014.9:52314933:C:T
Gene:: PTGER2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000014.9:g.52314934C>T, NC_000014.8:g.52781652C>T, NG_013082.1:g.5637C>T, NM_000956.4:c.386C>T, NM_000956.3:c.386C>T, NP_000947.2:p.Ala129Val

Select item 144462916718.

rs1444629167 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:52314841 (GRCh38)
14:52781559 (GRCh37)
Canonical SPDI:: NC_000014.9:52314840:C:T
Gene:: PTGER2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.52314841C>T, NC_000014.8:g.52781559C>T, NG_013082.1:g.5544C>T, NM_000956.4:c.293C>T, NM_000956.3:c.293C>T, NP_000947.2:p.Thr98Ile

Select item 144357068219.

rs1443570682 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 14:52314615 (GRCh38)
14:52781333 (GRCh37)
Canonical SPDI:: NC_000014.9:52314614:G:A,NC_000014.9:52314614:G:T
Gene:: PTGER2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.52314615G>A, NC_000014.9:g.52314615G>T, NC_000014.8:g.52781333G>A, NC_000014.8:g.52781333G>T, NG_013082.1:g.5318G>A, NG_013082.1:g.5318G>T, NM_000956.4:c.67G>A, NM_000956.4:c.67G>T, NM_000956.3:c.67G>A, NM_000956.3:c.67G>T, NP_000947.2:p.Glu23Lys, NP_000947.2:p.Glu23Ter

Select item 144249741520.

rs1442497415 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:52315236 (GRCh38)
14:52781954 (GRCh37)
Canonical SPDI:: NC_000014.9:52315235:C:T
Gene:: PTGER2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000014.9:g.52315236C>T, NC_000014.8:g.52781954C>T, NG_013082.1:g.5939C>T, NM_000956.4:c.688C>T, NM_000956.3:c.688C>T, NP_000947.2:p.Arg230Trp

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