SNP Links for Protein (Select 25901062) - SNP

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Links from Protein

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Select item 14905915941.

rs1490591594 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:5575917 (GRCh38)
20:5556563 (GRCh37)
Canonical SPDI:: NC_000020.11:5575916:C:T
Gene:: GPCPD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000012/3 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.5575917C>T, NC_000020.10:g.5556563C>T, XM_005260758.6:c.767G>A, XM_005260758.5:c.767G>A, XM_005260758.4:c.767G>A, XM_005260758.3:c.767G>A, XM_005260758.2:c.767G>A, XM_005260758.1:c.767G>A, NM_019593.5:c.767G>A, NM_019593.4:c.767G>A, NM_019593.3:c.767G>A, XM_024451949.2:c.620G>A, XM_024451949.1:c.620G>A, XM_047440310.1:c.767G>A, XM_047440308.1:c.767G>A, XM_047440309.1:c.767G>A, XM_047440311.1:c.767G>A, XM_047440312.1:c.620G>A, XM_047440313.1:c.224G>A, XR_007067469.1:n.1003G>A, XP_005260815.1:p.Cys256Tyr, NP_062539.1:p.Cys256Tyr, XP_024307717.1:p.Cys207Tyr, XP_047296266.1:p.Cys256Tyr, XP_047296264.1:p.Cys256Tyr, XP_047296265.1:p.Cys256Tyr, XP_047296267.1:p.Cys256Tyr, XP_047296268.1:p.Cys207Tyr, XP_047296269.1:p.Cys75Tyr

Select item 14877932842.

rs1487793284 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:5578570 (GRCh38)
20:5559216 (GRCh37)
Canonical SPDI:: NC_000020.11:5578569:T:C
Gene:: GPCPD1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.5578570T>C, NC_000020.10:g.5559216T>C, XM_005260758.6:c.515A>G, XM_005260758.5:c.515A>G, XM_005260758.4:c.515A>G, XM_005260758.3:c.515A>G, XM_005260758.2:c.515A>G, XM_005260758.1:c.515A>G, NM_019593.5:c.515A>G, NM_019593.4:c.515A>G, NM_019593.3:c.515A>G, XM_024451949.2:c.368A>G, XM_024451949.1:c.368A>G, XM_047440310.1:c.515A>G, XM_047440308.1:c.515A>G, XM_047440309.1:c.515A>G, XM_047440311.1:c.515A>G, XM_047440312.1:c.368A>G, XM_047440313.1:c.-29A>G, XR_007067469.1:n.751A>G, XP_005260815.1:p.Asp172Gly, NP_062539.1:p.Asp172Gly, XP_024307717.1:p.Asp123Gly, XP_047296266.1:p.Asp172Gly, XP_047296264.1:p.Asp172Gly, XP_047296265.1:p.Asp172Gly, XP_047296267.1:p.Asp172Gly, XP_047296268.1:p.Asp123Gly

Select item 14850567703.

rs1485056770 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:5598744 (GRCh38)
20:5579390 (GRCh37)
Canonical SPDI:: NC_000020.11:5598743:C:G
Gene:: GPCPD1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.5598744C>G, NC_000020.10:g.5579390C>G, XM_005260758.6:c.127G>C, XM_005260758.5:c.127G>C, XM_005260758.4:c.127G>C, XM_005260758.3:c.127G>C, XM_005260758.2:c.127G>C, XM_005260758.1:c.127G>C, NM_019593.5:c.127G>C, NM_019593.4:c.127G>C, NM_019593.3:c.127G>C, XM_024451949.2:c.-21G>C, XM_024451949.1:c.-21G>C, XM_047440310.1:c.127G>C, XM_047440308.1:c.127G>C, XM_047440309.1:c.127G>C, XM_047440311.1:c.127G>C, XM_047440312.1:c.-21G>C, XR_007067469.1:n.363G>C, XP_005260815.1:p.Glu43Gln, NP_062539.1:p.Glu43Gln, XP_047296266.1:p.Glu43Gln, XP_047296264.1:p.Glu43Gln, XP_047296265.1:p.Glu43Gln, XP_047296267.1:p.Glu43Gln

Select item 14837291684.

rs1483729168 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:5558018 (GRCh38)
20:5538664 (GRCh37)
Canonical SPDI:: NC_000020.11:5558017:C:T
Gene:: GPCPD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.5558018C>T, NC_000020.10:g.5538664C>T, XM_005260758.6:c.1756G>A, XM_005260758.5:c.1756G>A, XM_005260758.4:c.1756G>A, XM_005260758.3:c.1756G>A, XM_005260758.2:c.1756G>A, XM_005260758.1:c.1756G>A, NM_019593.5:c.1756G>A, NM_019593.4:c.1756G>A, NM_019593.3:c.1756G>A, XM_024451949.2:c.1609G>A, XM_024451949.1:c.1609G>A, XM_047440310.1:c.1756G>A, XM_047440308.1:c.1756G>A, XM_047440309.1:c.1756G>A, XM_047440311.1:c.1756G>A, XM_047440312.1:c.1609G>A, XM_047440313.1:c.1213G>A, XP_005260815.1:p.Gly586Ser, NP_062539.1:p.Gly586Ser, XP_024307717.1:p.Gly537Ser, XP_047296266.1:p.Gly586Ser, XP_047296264.1:p.Gly586Ser, XP_047296265.1:p.Gly586Ser, XP_047296267.1:p.Gly586Ser, XP_047296268.1:p.Gly537Ser, XP_047296269.1:p.Gly405Ser

Select item 14812250545.

rs1481225054 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:5586252 (GRCh38)
20:5566898 (GRCh37)
Canonical SPDI:: NC_000020.11:5586251:A:G
Gene:: GPCPD1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.5586252A>G, NC_000020.10:g.5566898A>G, XM_005260758.6:c.249T>C, XM_005260758.5:c.249T>C, XM_005260758.4:c.249T>C, XM_005260758.3:c.249T>C, XM_005260758.2:c.249T>C, XM_005260758.1:c.249T>C, NM_019593.5:c.249T>C, NM_019593.4:c.249T>C, NM_019593.3:c.249T>C, XM_024451949.2:c.102T>C, XM_024451949.1:c.102T>C, XM_047440310.1:c.249T>C, XM_047440308.1:c.249T>C, XM_047440309.1:c.249T>C, XM_047440311.1:c.249T>C, XM_047440312.1:c.102T>C, XR_007067469.1:n.485T>C

Select item 14811317236.

rs1481131723 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:5575417 (GRCh38)
20:5556063 (GRCh37)
Canonical SPDI:: NC_000020.11:5575416:C:T
Gene:: GPCPD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.5575417C>T, NC_000020.10:g.5556063C>T, XM_005260758.6:c.997G>A, XM_005260758.5:c.997G>A, XM_005260758.4:c.997G>A, XM_005260758.3:c.997G>A, XM_005260758.2:c.997G>A, XM_005260758.1:c.997G>A, NM_019593.5:c.997G>A, NM_019593.4:c.997G>A, NM_019593.3:c.997G>A, XM_024451949.2:c.850G>A, XM_024451949.1:c.850G>A, XM_047440310.1:c.997G>A, XM_047440308.1:c.997G>A, XM_047440309.1:c.997G>A, XM_047440311.1:c.997G>A, XM_047440312.1:c.850G>A, XM_047440313.1:c.454G>A, XR_007067469.1:n.1233G>A, XP_005260815.1:p.Ala333Thr, NP_062539.1:p.Ala333Thr, XP_024307717.1:p.Ala284Thr, XP_047296266.1:p.Ala333Thr, XP_047296264.1:p.Ala333Thr, XP_047296265.1:p.Ala333Thr, XP_047296267.1:p.Ala333Thr, XP_047296268.1:p.Ala284Thr, XP_047296269.1:p.Ala152Thr

Select item 14799578597.

rs1479957859 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:5567521 (GRCh38)
20:5548167 (GRCh37)
Canonical SPDI:: NC_000020.11:5567520:C:G
Gene:: GPCPD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.5567521C>G, NC_000020.10:g.5548167C>G, XM_005260758.6:c.1189G>C, XM_005260758.5:c.1189G>C, XM_005260758.4:c.1189G>C, XM_005260758.3:c.1189G>C, XM_005260758.2:c.1189G>C, XM_005260758.1:c.1189G>C, NM_019593.5:c.1189G>C, NM_019593.4:c.1189G>C, NM_019593.3:c.1189G>C, XM_024451949.2:c.1042G>C, XM_024451949.1:c.1042G>C, XM_047440310.1:c.1189G>C, XM_047440308.1:c.1189G>C, XM_047440309.1:c.1189G>C, XM_047440311.1:c.1189G>C, XM_047440312.1:c.1042G>C, XM_047440313.1:c.646G>C, XR_007067469.1:n.1471G>C, XP_005260815.1:p.Val397Leu, NP_062539.1:p.Val397Leu, XP_024307717.1:p.Val348Leu, XP_047296266.1:p.Val397Leu, XP_047296264.1:p.Val397Leu, XP_047296265.1:p.Val397Leu, XP_047296267.1:p.Val397Leu, XP_047296268.1:p.Val348Leu, XP_047296269.1:p.Val216Leu

Select item 14783713418.

rs1478371341 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:5558733 (GRCh38)
20:5539379 (GRCh37)
Canonical SPDI:: NC_000020.11:5558732:G:T
Gene:: GPCPD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000020.11:g.5558733G>T, NC_000020.10:g.5539379G>T, XM_005260758.6:c.1619C>A, XM_005260758.5:c.1619C>A, XM_005260758.4:c.1619C>A, XM_005260758.3:c.1619C>A, XM_005260758.2:c.1619C>A, XM_005260758.1:c.1619C>A, NM_019593.5:c.1619C>A, NM_019593.4:c.1619C>A, NM_019593.3:c.1619C>A, XM_024451949.2:c.1472C>A, XM_024451949.1:c.1472C>A, XM_047440310.1:c.1619C>A, XM_047440308.1:c.1619C>A, XM_047440309.1:c.1619C>A, XM_047440311.1:c.1619C>A, XM_047440312.1:c.1472C>A, XM_047440313.1:c.1076C>A, XP_005260815.1:p.Ser540Tyr, NP_062539.1:p.Ser540Tyr, XP_024307717.1:p.Ser491Tyr, XP_047296266.1:p.Ser540Tyr, XP_047296264.1:p.Ser540Tyr, XP_047296265.1:p.Ser540Tyr, XP_047296267.1:p.Ser540Tyr, XP_047296268.1:p.Ser491Tyr, XP_047296269.1:p.Ser359Tyr

Select item 14764042929.

rs1476404292 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 20:5566762 (GRCh38)
20:5547408 (GRCh37)
Canonical SPDI:: NC_000020.11:5566761:A:T
Gene:: GPCPD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.5566762A>T, NC_000020.10:g.5547408A>T, XM_005260758.6:c.1238T>A, XM_005260758.5:c.1238T>A, XM_005260758.4:c.1238T>A, XM_005260758.3:c.1238T>A, XM_005260758.2:c.1238T>A, XM_005260758.1:c.1238T>A, NM_019593.5:c.1238T>A, NM_019593.4:c.1238T>A, NM_019593.3:c.1238T>A, XM_024451949.2:c.1091T>A, XM_024451949.1:c.1091T>A, XM_047440310.1:c.1238T>A, XM_047440308.1:c.1238T>A, XM_047440309.1:c.1238T>A, XM_047440311.1:c.1238T>A, XM_047440312.1:c.1091T>A, XM_047440313.1:c.695T>A, XR_007067469.1:n.1520T>A, XP_005260815.1:p.Val413Glu, NP_062539.1:p.Val413Glu, XP_024307717.1:p.Val364Glu, XP_047296266.1:p.Val413Glu, XP_047296264.1:p.Val413Glu, XP_047296265.1:p.Val413Glu, XP_047296267.1:p.Val413Glu, XP_047296268.1:p.Val364Glu, XP_047296269.1:p.Val232Glu

Select item 147353228910.

rs1473532289 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:5593359 (GRCh38)
20:5574005 (GRCh37)
Canonical SPDI:: NC_000020.11:5593358:G:A
Gene:: GPCPD1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000020.11:g.5593359G>A, NC_000020.10:g.5574005G>A, NG_080892.1:g.237G>A, XM_005260758.6:c.199C>T, XM_005260758.5:c.199C>T, XM_005260758.4:c.199C>T, XM_005260758.3:c.199C>T, XM_005260758.2:c.199C>T, XM_005260758.1:c.199C>T, NM_019593.5:c.199C>T, NM_019593.4:c.199C>T, NM_019593.3:c.199C>T, XM_024451949.2:c.52C>T, XM_024451949.1:c.52C>T, XM_047440310.1:c.199C>T, XM_047440308.1:c.199C>T, XM_047440309.1:c.199C>T, XM_047440311.1:c.199C>T, XM_047440312.1:c.52C>T, XM_047440313.1:c.-269C>T, XR_007067469.1:n.435C>T, XP_005260815.1:p.Arg67Cys, NP_062539.1:p.Arg67Cys, XP_024307717.1:p.Arg18Cys, XP_047296266.1:p.Arg67Cys, XP_047296264.1:p.Arg67Cys, XP_047296265.1:p.Arg67Cys, XP_047296267.1:p.Arg67Cys, XP_047296268.1:p.Arg18Cys

Select item 147330630011.

rs1473306300 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:5578560 (GRCh38)
20:5559206 (GRCh37)
Canonical SPDI:: NC_000020.11:5578559:A:G
Gene:: GPCPD1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.5578560A>G, NC_000020.10:g.5559206A>G, XM_005260758.6:c.525T>C, XM_005260758.5:c.525T>C, XM_005260758.4:c.525T>C, XM_005260758.3:c.525T>C, XM_005260758.2:c.525T>C, XM_005260758.1:c.525T>C, NM_019593.5:c.525T>C, NM_019593.4:c.525T>C, NM_019593.3:c.525T>C, XM_024451949.2:c.378T>C, XM_024451949.1:c.378T>C, XM_047440310.1:c.525T>C, XM_047440308.1:c.525T>C, XM_047440309.1:c.525T>C, XM_047440311.1:c.525T>C, XM_047440312.1:c.378T>C, XM_047440313.1:c.-19T>C, XR_007067469.1:n.761T>C

Select item 146807039212.

rs1468070392 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:5578520 (GRCh38)
20:5559166 (GRCh37)
Canonical SPDI:: NC_000020.11:5578519:A:G
Gene:: GPCPD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.5578520A>G, NC_000020.10:g.5559166A>G, XM_005260758.6:c.565T>C, XM_005260758.5:c.565T>C, XM_005260758.4:c.565T>C, XM_005260758.3:c.565T>C, XM_005260758.2:c.565T>C, XM_005260758.1:c.565T>C, NM_019593.5:c.565T>C, NM_019593.4:c.565T>C, NM_019593.3:c.565T>C, XM_024451949.2:c.418T>C, XM_024451949.1:c.418T>C, XM_047440310.1:c.565T>C, XM_047440308.1:c.565T>C, XM_047440309.1:c.565T>C, XM_047440311.1:c.565T>C, XM_047440312.1:c.418T>C, XM_047440313.1:c.22T>C, XR_007067469.1:n.801T>C, XP_005260815.1:p.Ser189Pro, NP_062539.1:p.Ser189Pro, XP_024307717.1:p.Ser140Pro, XP_047296266.1:p.Ser189Pro, XP_047296264.1:p.Ser189Pro, XP_047296265.1:p.Ser189Pro, XP_047296267.1:p.Ser189Pro, XP_047296268.1:p.Ser140Pro, XP_047296269.1:p.Ser8Pro

Select item 146716029713.

rs1467160297 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:5604407 (GRCh38)
20:5585053 (GRCh37)
Canonical SPDI:: NC_000020.11:5604406:T:C
Gene:: GPCPD1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000087/2 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000020.11:g.5604407T>C, NC_000020.10:g.5585053T>C, XM_005260758.6:c.6A>G, XM_005260758.5:c.6A>G, XM_005260758.4:c.6A>G, XM_005260758.3:c.6A>G, XM_005260758.2:c.6A>G, XM_005260758.1:c.6A>G, NM_019593.5:c.6A>G, NM_019593.4:c.6A>G, NM_019593.3:c.6A>G, XM_047440310.1:c.6A>G, XM_047440308.1:c.6A>G, XM_047440309.1:c.6A>G, XM_047440311.1:c.6A>G, XR_007067469.1:n.242A>G

Select item 146514989114.

rs1465149891 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 20:5547712 (GRCh38)
20:5528358 (GRCh37)
Canonical SPDI:: NC_000020.11:5547711:C:A,NC_000020.11:5547711:C:T
Gene:: GPCPD1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.000051/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.5547712C>A, NC_000020.11:g.5547712C>T, NC_000020.10:g.5528358C>A, NC_000020.10:g.5528358C>T, XM_005260758.6:c.1968G>T, XM_005260758.6:c.1968G>A, XM_005260758.5:c.1968G>T, XM_005260758.5:c.1968G>A, XM_005260758.4:c.1968G>T, XM_005260758.4:c.1968G>A, XM_005260758.3:c.1968G>T, XM_005260758.3:c.1968G>A, XM_005260758.2:c.1968G>T, XM_005260758.2:c.1968G>A, XM_005260758.1:c.1968G>T, XM_005260758.1:c.1968G>A, NM_019593.5:c.1968G>T, NM_019593.5:c.1968G>A, NM_019593.4:c.1968G>T, NM_019593.4:c.1968G>A, NM_019593.3:c.1968G>T, NM_019593.3:c.1968G>A, XM_024451949.2:c.1821G>T, XM_024451949.2:c.1821G>A, XM_024451949.1:c.1821G>T, XM_024451949.1:c.1821G>A, XM_047440310.1:c.1968G>T, XM_047440310.1:c.1968G>A, XM_047440308.1:c.1968G>T, XM_047440308.1:c.1968G>A, XM_047440309.1:c.1968G>T, XM_047440309.1:c.1968G>A, XM_047440311.1:c.1968G>T, XM_047440311.1:c.1968G>A, XM_047440312.1:c.1821G>T, XM_047440312.1:c.1821G>A, XM_047440313.1:c.1425G>T, XM_047440313.1:c.1425G>A, XP_005260815.1:p.Glu656Asp, NP_062539.1:p.Glu656Asp, XP_024307717.1:p.Glu607Asp, XP_047296266.1:p.Glu656Asp, XP_047296264.1:p.Glu656Asp, XP_047296265.1:p.Glu656Asp, XP_047296267.1:p.Glu656Asp, XP_047296268.1:p.Glu607Asp, XP_047296269.1:p.Glu475Asp

Select item 146455425015.

rs1464554250 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:5593358 (GRCh38)
20:5574004 (GRCh37)
Canonical SPDI:: NC_000020.11:5593357:C:T
Gene:: GPCPD1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_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_000020.11:g.5593358C>T, NC_000020.10:g.5574004C>T, NG_080892.1:g.236C>T, XM_005260758.6:c.200G>A, XM_005260758.5:c.200G>A, XM_005260758.4:c.200G>A, XM_005260758.3:c.200G>A, XM_005260758.2:c.200G>A, XM_005260758.1:c.200G>A, NM_019593.5:c.200G>A, NM_019593.4:c.200G>A, NM_019593.3:c.200G>A, XM_024451949.2:c.53G>A, XM_024451949.1:c.53G>A, XM_047440310.1:c.200G>A, XM_047440308.1:c.200G>A, XM_047440309.1:c.200G>A, XM_047440311.1:c.200G>A, XM_047440312.1:c.53G>A, XM_047440313.1:c.-268G>A, XR_007067469.1:n.436G>A, XP_005260815.1:p.Arg67His, NP_062539.1:p.Arg67His, XP_024307717.1:p.Arg18His, XP_047296266.1:p.Arg67His, XP_047296264.1:p.Arg67His, XP_047296265.1:p.Arg67His, XP_047296267.1:p.Arg67His, XP_047296268.1:p.Arg18His

Select item 146132563216.

rs1461325632 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:5575849 (GRCh38)
20:5556495 (GRCh37)
Canonical SPDI:: NC_000020.11:5575848:T:C
Gene:: GPCPD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_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_000020.11:g.5575849T>C, NC_000020.10:g.5556495T>C, XM_005260758.6:c.835A>G, XM_005260758.5:c.835A>G, XM_005260758.4:c.835A>G, XM_005260758.3:c.835A>G, XM_005260758.2:c.835A>G, XM_005260758.1:c.835A>G, NM_019593.5:c.835A>G, NM_019593.4:c.835A>G, NM_019593.3:c.835A>G, XM_024451949.2:c.688A>G, XM_024451949.1:c.688A>G, XM_047440310.1:c.835A>G, XM_047440308.1:c.835A>G, XM_047440309.1:c.835A>G, XM_047440311.1:c.835A>G, XM_047440312.1:c.688A>G, XM_047440313.1:c.292A>G, XR_007067469.1:n.1071A>G, XP_005260815.1:p.Arg279Gly, NP_062539.1:p.Arg279Gly, XP_024307717.1:p.Arg230Gly, XP_047296266.1:p.Arg279Gly, XP_047296264.1:p.Arg279Gly, XP_047296265.1:p.Arg279Gly, XP_047296267.1:p.Arg279Gly, XP_047296268.1:p.Arg230Gly, XP_047296269.1:p.Arg98Gly

Select item 146114708417.

rs1461147084 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:5560073 (GRCh38)
20:5540719 (GRCh37)
Canonical SPDI:: NC_000020.11:5560072:C:G
Gene:: GPCPD1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000005/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.5560073C>G, NC_000020.10:g.5540719C>G, XM_005260758.6:c.1399G>C, XM_005260758.5:c.1399G>C, XM_005260758.4:c.1399G>C, XM_005260758.3:c.1399G>C, XM_005260758.2:c.1399G>C, XM_005260758.1:c.1399G>C, NM_019593.5:c.1399G>C, NM_019593.4:c.1399G>C, NM_019593.3:c.1399G>C, XM_024451949.2:c.1252G>C, XM_024451949.1:c.1252G>C, XM_047440310.1:c.1399G>C, XM_047440308.1:c.1399G>C, XM_047440309.1:c.1399G>C, XM_047440311.1:c.1399G>C, XM_047440312.1:c.1252G>C, XM_047440313.1:c.856G>C, XP_005260815.1:p.Gly467Arg, NP_062539.1:p.Gly467Arg, XP_024307717.1:p.Gly418Arg, XP_047296266.1:p.Gly467Arg, XP_047296264.1:p.Gly467Arg, XP_047296265.1:p.Gly467Arg, XP_047296267.1:p.Gly467Arg, XP_047296268.1:p.Gly418Arg, XP_047296269.1:p.Gly286Arg

Select item 146035155718.

rs1460351557 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:5566754 (GRCh38)
20:5547400 (GRCh37)
Canonical SPDI:: NC_000020.11:5566753:G:A
Gene:: GPCPD1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.5566754G>A, NC_000020.10:g.5547400G>A, XM_005260758.6:c.1246C>T, XM_005260758.5:c.1246C>T, XM_005260758.4:c.1246C>T, XM_005260758.3:c.1246C>T, XM_005260758.2:c.1246C>T, XM_005260758.1:c.1246C>T, NM_019593.5:c.1246C>T, NM_019593.4:c.1246C>T, NM_019593.3:c.1246C>T, XM_024451949.2:c.1099C>T, XM_024451949.1:c.1099C>T, XM_047440310.1:c.1246C>T, XM_047440308.1:c.1246C>T, XM_047440309.1:c.1246C>T, XM_047440311.1:c.1246C>T, XM_047440312.1:c.1099C>T, XM_047440313.1:c.703C>T, XR_007067469.1:n.1528C>T

Select item 145690233519.

rs1456902335 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:5557945 (GRCh38)
20:5538591 (GRCh37)
Canonical SPDI:: NC_000020.11:5557944:C:T
Gene:: GPCPD1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.5557945C>T, NC_000020.10:g.5538591C>T, XM_005260758.6:c.1829G>A, XM_005260758.5:c.1829G>A, XM_005260758.4:c.1829G>A, XM_005260758.3:c.1829G>A, XM_005260758.2:c.1829G>A, XM_005260758.1:c.1829G>A, NM_019593.5:c.1829G>A, NM_019593.4:c.1829G>A, NM_019593.3:c.1829G>A, XM_024451949.2:c.1682G>A, XM_024451949.1:c.1682G>A, XM_047440310.1:c.1829G>A, XM_047440308.1:c.1829G>A, XM_047440309.1:c.1829G>A, XM_047440311.1:c.1829G>A, XM_047440312.1:c.1682G>A, XM_047440313.1:c.1286G>A, XP_005260815.1:p.Arg610Lys, NP_062539.1:p.Arg610Lys, XP_024307717.1:p.Arg561Lys, XP_047296266.1:p.Arg610Lys, XP_047296264.1:p.Arg610Lys, XP_047296265.1:p.Arg610Lys, XP_047296267.1:p.Arg610Lys, XP_047296268.1:p.Arg561Lys, XP_047296269.1:p.Arg429Lys

Select item 145494737420.

rs1454947374 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:5560005 (GRCh38)
20:5540651 (GRCh37)
Canonical SPDI:: NC_000020.11:5560004:A:G
Gene:: GPCPD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.5560005A>G, NC_000020.10:g.5540651A>G, XM_005260758.6:c.1467T>C, XM_005260758.5:c.1467T>C, XM_005260758.4:c.1467T>C, XM_005260758.3:c.1467T>C, XM_005260758.2:c.1467T>C, XM_005260758.1:c.1467T>C, NM_019593.5:c.1467T>C, NM_019593.4:c.1467T>C, NM_019593.3:c.1467T>C, XM_024451949.2:c.1320T>C, XM_024451949.1:c.1320T>C, XM_047440310.1:c.1467T>C, XM_047440308.1:c.1467T>C, XM_047440309.1:c.1467T>C, XM_047440311.1:c.1467T>C, XM_047440312.1:c.1320T>C, XM_047440313.1:c.924T>C

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