SNP Links for Protein (Select 1001184366) - SNP

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Links from Protein

Items: 1 to 20 of 151

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Select item 14898321841.

rs1489832184 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:37067370 (GRCh38)
21:38439670 (GRCh37)
Canonical SPDI:: NC_000021.9:37067369:C:T
Gene:: PIGP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.37067370C>T, NC_000021.8:g.38439670C>T, NM_016430.4:c.88G>A, NM_016430.3:c.88G>A, NM_016430.2:c.88G>A, NM_016430.1:c.88G>A, NM_153682.3:c.166G>A, NM_153682.2:c.166G>A, NM_153681.2:c.238G>A, NM_001320480.2:c.166G>A, NM_001320480.1:c.166G>A, NR_028352.1:n.513G>A, NP_057514.2:p.Val30Ile, NP_710149.1:p.Val56Ile, NP_710148.1:p.Val80Ile, NP_001307409.1:p.Val56Ile

Select item 14888669912.

rs1488866991 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:37065705 (GRCh38)
21:38438005 (GRCh37)
Canonical SPDI:: NC_000021.9:37065704:A:G
Gene:: PIGP (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000021.9:g.37065705A>G, NC_000021.8:g.38438005A>G, NM_016430.4:c.204T>C, NM_016430.3:c.204T>C, NM_016430.2:c.204T>C, NM_016430.1:c.204T>C, NM_153682.3:c.282T>C, NM_153682.2:c.282T>C, NM_153681.2:c.354T>C, NM_001320480.2:c.282T>C, NM_001320480.1:c.282T>C, NR_028352.1:n.629T>C

Select item 14879267293.

rs1487926729 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 21:37067320 (GRCh38)
21:38439620 (GRCh37)
Canonical SPDI:: NC_000021.9:37067319:G:T
Gene:: PIGP (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000021.9:g.37067320G>T, NC_000021.8:g.38439620G>T, NM_016430.4:c.138C>A, NM_016430.3:c.138C>A, NM_016430.2:c.138C>A, NM_016430.1:c.138C>A, NM_153682.3:c.216C>A, NM_153682.2:c.216C>A, NM_153681.2:c.288C>A, NM_001320480.2:c.216C>A, NM_001320480.1:c.216C>A, NR_028352.1:n.563C>A

Select item 14871938704.

rs1487193870 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:37069607 (GRCh38)
21:38441907 (GRCh37)
Canonical SPDI:: NC_000021.9:37069606:C:T
Gene:: PIGP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00034/1 (KOREAN)
HGVS:: NC_000021.9:g.37069607C>T, NC_000021.8:g.38441907C>T, NM_016430.4:c.22G>A, NM_016430.3:c.22G>A, NM_016430.2:c.22G>A, NM_016430.1:c.22G>A, NM_153682.3:c.100G>A, NM_153682.2:c.100G>A, NM_153681.2:c.172G>A, NM_001320480.2:c.100G>A, NM_001320480.1:c.100G>A, NR_028352.1:n.447G>A, NP_057514.2:p.Ala8Thr, NP_710149.1:p.Ala34Thr, NP_710148.1:p.Ala58Thr, NP_001307409.1:p.Ala34Thr

Select item 14843948425.

rs1484394842 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:37069576 (GRCh38)
21:38441876 (GRCh37)
Canonical SPDI:: NC_000021.9:37069575:A:G
Gene:: PIGP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000021.9:g.37069576A>G, NC_000021.8:g.38441876A>G, NM_016430.4:c.53T>C, NM_016430.3:c.53T>C, NM_016430.2:c.53T>C, NM_016430.1:c.53T>C, NM_153682.3:c.131T>C, NM_153682.2:c.131T>C, NM_153681.2:c.203T>C, NM_001320480.2:c.131T>C, NM_001320480.1:c.131T>C, NR_028352.1:n.478T>C, NP_057514.2:p.Leu18Ser, NP_710149.1:p.Leu44Ser, NP_710148.1:p.Leu68Ser, NP_001307409.1:p.Leu44Ser

Select item 14792077096.

rs1479207709 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 21:37067323 (GRCh38)
21:38439623 (GRCh37)
Canonical SPDI:: NC_000021.9:37067322:C:G
Gene:: PIGP (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000021.9:g.37067323C>G, NC_000021.8:g.38439623C>G, NM_016430.4:c.135G>C, NM_016430.3:c.135G>C, NM_016430.2:c.135G>C, NM_016430.1:c.135G>C, NM_153682.3:c.213G>C, NM_153682.2:c.213G>C, NM_153681.2:c.285G>C, NM_001320480.2:c.213G>C, NM_001320480.1:c.213G>C, NR_028352.1:n.560G>C

Select item 14747715377.

rs1474771537 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:37065647 (GRCh38)
21:38437947 (GRCh37)
Canonical SPDI:: NC_000021.9:37065646:T:C
Gene:: PIGP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000021.9:g.37065647T>C, NC_000021.8:g.38437947T>C, NM_016430.4:c.262A>G, NM_016430.3:c.262A>G, NM_016430.2:c.262A>G, NM_016430.1:c.262A>G, NM_153682.3:c.340A>G, NM_153682.2:c.340A>G, NM_153681.2:c.412A>G, NM_001320480.2:c.340A>G, NM_001320480.1:c.340A>G, NR_028352.1:n.687A>G, NP_057514.2:p.Ile88Val, NP_710149.1:p.Ile114Val, NP_710148.1:p.Ile138Val, NP_001307409.1:p.Ile114Val

Select item 14644219618.

rs1464421961 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 21:37067361 (GRCh38)
21:38439661 (GRCh37)
Canonical SPDI:: NC_000021.9:37067360:G:C
Gene:: PIGP (Varview)
Functional Consequence:: 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_000021.9:g.37067361G>C, NC_000021.8:g.38439661G>C, NM_016430.4:c.97C>G, NM_016430.3:c.97C>G, NM_016430.2:c.97C>G, NM_016430.1:c.97C>G, NM_153682.3:c.175C>G, NM_153682.2:c.175C>G, NM_153681.2:c.247C>G, NM_001320480.2:c.175C>G, NM_001320480.1:c.175C>G, NR_028352.1:n.522C>G, NP_057514.2:p.Pro33Ala, NP_710149.1:p.Pro59Ala, NP_710148.1:p.Pro83Ala, NP_001307409.1:p.Pro59Ala

Select item 14438005789.

rs1443800578 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:37065671 (GRCh38)
21:38437971 (GRCh37)
Canonical SPDI:: NC_000021.9:37065670:C:T
Gene:: PIGP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.37065671C>T, NC_000021.8:g.38437971C>T, NM_016430.4:c.238G>A, NM_016430.3:c.238G>A, NM_016430.2:c.238G>A, NM_016430.1:c.238G>A, NM_153682.3:c.316G>A, NM_153682.2:c.316G>A, NM_153681.2:c.388G>A, NM_001320480.2:c.316G>A, NM_001320480.1:c.316G>A, NR_028352.1:n.663G>A, NP_057514.2:p.Glu80Lys, NP_710149.1:p.Glu106Lys, NP_710148.1:p.Glu130Lys, NP_001307409.1:p.Glu106Lys

Select item 144288379410.

rs1442883794 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:37072454 (GRCh38)
21:38444754 (GRCh37)
Canonical SPDI:: NC_000021.9:37072453:A:G
Gene:: TTC3 (Varview), PIGP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.37072454A>G, NC_000021.8:g.38444754A>G, NM_016430.4:c.-183T>C, NM_016430.3:c.-183T>C, NM_016430.2:c.-183T>C, NM_016430.1:c.-183T>C, NM_153682.3:c.62T>C, NM_153682.2:c.62T>C, NM_153681.2:c.134T>C, NM_001320480.2:c.62T>C, NM_001320480.1:c.62T>C, NR_028352.1:n.243T>C, NP_710149.1:p.Leu21Ser, NP_710148.1:p.Leu45Ser, NP_001307409.1:p.Leu21Ser

Select item 143142283511.

rs1431422835 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:37067277 (GRCh38)
21:38439577 (GRCh37)
Canonical SPDI:: NC_000021.9:37067276:T:C
Gene:: PIGP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.37067277T>C, NC_000021.8:g.38439577T>C, NM_016430.4:c.181A>G, NM_016430.3:c.181A>G, NM_016430.2:c.181A>G, NM_016430.1:c.181A>G, NM_153682.3:c.259A>G, NM_153682.2:c.259A>G, NM_153681.2:c.331A>G, NM_001320480.2:c.259A>G, NM_001320480.1:c.259A>G, NR_028352.1:n.606A>G, NP_057514.2:p.Ile61Val, NP_710149.1:p.Ile87Val, NP_710148.1:p.Ile111Val, NP_001307409.1:p.Ile87Val

Select item 142135410112.

rs1421354101 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 21:37065600 (GRCh38)
21:38437900 (GRCh37)
Canonical SPDI:: NC_000021.9:37065599:T:A
Gene:: PIGP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.37065600T>A, NC_000021.8:g.38437900T>A, NM_016430.4:c.309A>T, NM_016430.3:c.309A>T, NM_016430.2:c.309A>T, NM_016430.1:c.309A>T, NM_153682.3:c.387A>T, NM_153682.2:c.387A>T, NM_153681.2:c.459A>T, NM_001320480.2:c.387A>T, NM_001320480.1:c.387A>T, NR_028352.1:n.734A>T, NP_057514.2:p.Glu103Asp, NP_710149.1:p.Glu129Asp, NP_710148.1:p.Glu153Asp, NP_001307409.1:p.Glu129Asp

Select item 140323626913.

rs1403236269 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 21:37067342 (GRCh38)
21:38439642 (GRCh37)
Canonical SPDI:: NC_000021.9:37067341:G:C
Gene:: PIGP (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000021.9:g.37067342G>C, NC_000021.8:g.38439642G>C, NM_016430.4:c.116C>G, NM_016430.3:c.116C>G, NM_016430.2:c.116C>G, NM_016430.1:c.116C>G, NM_153682.3:c.194C>G, NM_153682.2:c.194C>G, NM_153681.2:c.266C>G, NM_001320480.2:c.194C>G, NM_001320480.1:c.194C>G, NR_028352.1:n.541C>G, NP_057514.2:p.Ala39Gly, NP_710149.1:p.Ala65Gly, NP_710148.1:p.Ala89Gly, NP_001307409.1:p.Ala65Gly

Select item 139994549314.

rs1399945493 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:37067337 (GRCh38)
21:38439637 (GRCh37)
Canonical SPDI:: NC_000021.9:37067336:C:T
Gene:: PIGP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000043/6 (GnomAD)
HGVS:: NC_000021.9:g.37067337C>T, NC_000021.8:g.38439637C>T, NM_016430.4:c.121G>A, NM_016430.3:c.121G>A, NM_016430.2:c.121G>A, NM_016430.1:c.121G>A, NM_153682.3:c.199G>A, NM_153682.2:c.199G>A, NM_153681.2:c.271G>A, NM_001320480.2:c.199G>A, NM_001320480.1:c.199G>A, NR_028352.1:n.546G>A, NP_057514.2:p.Val41Ile, NP_710149.1:p.Val67Ile, NP_710148.1:p.Val91Ile, NP_001307409.1:p.Val67Ile

Select item 139986229515.

rs1399862295 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:37069559 (GRCh38)
21:38441859 (GRCh37)
Canonical SPDI:: NC_000021.9:37069558:G:A
Gene:: PIGP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000021.9:g.37069559G>A, NC_000021.8:g.38441859G>A, NM_016430.4:c.70C>T, NM_016430.3:c.70C>T, NM_016430.2:c.70C>T, NM_016430.1:c.70C>T, NM_153682.3:c.148C>T, NM_153682.2:c.148C>T, NM_153681.2:c.220C>T, NM_001320480.2:c.148C>T, NM_001320480.1:c.148C>T, NR_028352.1:n.495C>T, NP_057514.2:p.Pro24Ser, NP_710149.1:p.Pro50Ser, NP_710148.1:p.Pro74Ser, NP_001307409.1:p.Pro50Ser

Select item 139728041516.

rs1397280415 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:37067354 (GRCh38)
21:38439654 (GRCh37)
Canonical SPDI:: NC_000021.9:37067353:T:C
Gene:: PIGP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000021.9:g.37067354T>C, NC_000021.8:g.38439654T>C, NM_016430.4:c.104A>G, NM_016430.3:c.104A>G, NM_016430.2:c.104A>G, NM_016430.1:c.104A>G, NM_153682.3:c.182A>G, NM_153682.2:c.182A>G, NM_153681.2:c.254A>G, NM_001320480.2:c.182A>G, NM_001320480.1:c.182A>G, NR_028352.1:n.529A>G, NP_057514.2:p.Tyr35Cys, NP_710149.1:p.Tyr61Cys, NP_710148.1:p.Tyr85Cys, NP_001307409.1:p.Tyr61Cys

Select item 138433535417.

rs1384335354 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 21:37065698 (GRCh38)
21:38437998 (GRCh37)
Canonical SPDI:: NC_000021.9:37065697:T:G
Gene:: PIGP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.37065698T>G, NC_000021.8:g.38437998T>G, NM_016430.4:c.211A>C, NM_016430.3:c.211A>C, NM_016430.2:c.211A>C, NM_016430.1:c.211A>C, NM_153682.3:c.289A>C, NM_153682.2:c.289A>C, NM_153681.2:c.361A>C, NM_001320480.2:c.289A>C, NM_001320480.1:c.289A>C, NR_028352.1:n.636A>C, NP_057514.2:p.Asn71His, NP_710149.1:p.Asn97His, NP_710148.1:p.Asn121His, NP_001307409.1:p.Asn97His

Select item 138022913718.

rs1380229137 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:37069578 (GRCh38)
21:38441878 (GRCh37)
Canonical SPDI:: NC_000021.9:37069577:A:G
Gene:: PIGP (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000021.9:g.37069578A>G, NC_000021.8:g.38441878A>G, NM_016430.4:c.51T>C, NM_016430.3:c.51T>C, NM_016430.2:c.51T>C, NM_016430.1:c.51T>C, NM_153682.3:c.129T>C, NM_153682.2:c.129T>C, NM_153681.2:c.201T>C, NM_001320480.2:c.129T>C, NM_001320480.1:c.129T>C, NR_028352.1:n.476T>C

Select item 136960062219.

rs1369600622 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:37069616 (GRCh38)
21:38441916 (GRCh37)
Canonical SPDI:: NC_000021.9:37069615:G:A
Gene:: PIGP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.37069616G>A, NC_000021.8:g.38441916G>A, NM_016430.4:c.13C>T, NM_016430.3:c.13C>T, NM_016430.2:c.13C>T, NM_016430.1:c.13C>T, NM_153682.3:c.91C>T, NM_153682.2:c.91C>T, NM_153681.2:c.163C>T, NM_001320480.2:c.91C>T, NM_001320480.1:c.91C>T, NR_028352.1:n.438C>T, NP_057514.2:p.Leu5Phe, NP_710149.1:p.Leu31Phe, NP_710148.1:p.Leu55Phe, NP_001307409.1:p.Leu31Phe

Select item 135851982220.

rs1358519822 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:37067363 (GRCh38)
21:38439663 (GRCh37)
Canonical SPDI:: NC_000021.9:37067362:A:G
Gene:: PIGP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.37067363A>G, NC_000021.8:g.38439663A>G, NM_016430.4:c.95T>C, NM_016430.3:c.95T>C, NM_016430.2:c.95T>C, NM_016430.1:c.95T>C, NM_153682.3:c.173T>C, NM_153682.2:c.173T>C, NM_153681.2:c.245T>C, NM_001320480.2:c.173T>C, NM_001320480.1:c.173T>C, NR_028352.1:n.520T>C, NP_057514.2:p.Leu32Ser, NP_710149.1:p.Leu58Ser, NP_710148.1:p.Leu82Ser, NP_001307409.1:p.Leu58Ser

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