SNP Links for Protein (Select 22749527) - SNP

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:75370126 (GRCh38)
12:75763906 (GRCh37)
Canonical SPDI:: NC_000012.12:75370125:A:G
Gene:: CAPS2 (Varview), GLIPR1L1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,downstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.75370126A>G, NC_000012.11:g.75763906A>G, NM_152779.4:c.652A>G, NM_152779.3:c.652A>G, NM_152779.2:c.652A>G, NM_001304964.2:c.679A>G, NM_001304964.1:c.679A>G, NP_689992.1:p.Thr218Ala, NP_001291893.1:p.Thr227Ala

Select item 144767729110.

rs1447677291 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTG>- [Show Flanks]
Chromosome:: 12:75343764 (GRCh38)
12:75737544 (GRCh37)
Canonical SPDI:: NC_000012.12:75343761:TGTTTG:TG
Gene:: CAPS2 (Varview), GLIPR1L1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.75343764_75343767del, NC_000012.11:g.75737544_75737547del, NM_152779.4:c.246_249del, NM_152779.3:c.246_249del, NM_152779.2:c.246_249del, XM_011538134.4:c.246_249del, XM_011538134.3:c.501_504del, XM_011538134.2:c.501_504del, XM_011538134.1:c.246_249del, NM_001304964.2:c.246_249del, NM_001304964.1:c.246_249del, NP_689992.1:p.Cys82fs, XP_011536436.3:p.Cys82fs, NP_001291893.1:p.Cys82fs

Select item 142859785511.

rs1428597855 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:75334773 (GRCh38)
12:75728553 (GRCh37)
Canonical SPDI:: NC_000012.12:75334772:G:A
Gene:: CAPS2 (Varview), GLIPR1L1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000012.12:g.75334773G>A, NC_000012.11:g.75728553G>A, NM_152779.4:c.45G>A, NM_152779.3:c.45G>A, NM_152779.2:c.45G>A, XM_011538134.4:c.45G>A, XM_011538134.3:c.300G>A, XM_011538134.2:c.300G>A, XM_011538134.1:c.45G>A, NM_001304964.2:c.45G>A, NM_001304964.1:c.45G>A

Select item 142545697012.

rs1425456970 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:75370097 (GRCh38)
12:75763877 (GRCh37)
Canonical SPDI:: NC_000012.12:75370096:T:C
Gene:: CAPS2 (Varview), GLIPR1L1 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.75370097T>C, NC_000012.11:g.75763877T>C, NM_152779.4:c.623T>C, NM_152779.3:c.623T>C, NM_152779.2:c.623T>C, NM_001304964.2:c.650T>C, NM_001304964.1:c.650T>C, NP_689992.1:p.Leu208Pro, NP_001291893.1:p.Leu217Pro

Select item 142372352513.

rs1423723525 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:75347660 (GRCh38)
12:75741440 (GRCh37)
Canonical SPDI:: NC_000012.12:75347659:T:A
Gene:: CAPS2 (Varview), GLIPR1L1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_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.75347660T>A, NC_000012.11:g.75741440T>A, NM_152779.4:c.459T>A, NM_152779.3:c.459T>A, NM_152779.2:c.459T>A, XM_011538134.4:c.459T>A, XM_011538134.3:c.714T>A, XM_011538134.2:c.714T>A, XM_011538134.1:c.459T>A, NM_001304964.2:c.459T>A, NM_001304964.1:c.459T>A

Select item 142052883514.

rs1420528835 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:75334884 (GRCh38)
12:75728664 (GRCh37)
Canonical SPDI:: NC_000012.12:75334883:G:A
Gene:: CAPS2 (Varview), GLIPR1L1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000028/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.75334884G>A, NC_000012.11:g.75728664G>A, NM_152779.4:c.156G>A, NM_152779.3:c.156G>A, NM_152779.2:c.156G>A, XM_011538134.4:c.156G>A, XM_011538134.3:c.411G>A, XM_011538134.2:c.411G>A, XM_011538134.1:c.156G>A, NM_001304964.2:c.156G>A, NM_001304964.1:c.156G>A

Select item 141951933115.

rs1419519331 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:75363103 (GRCh38)
12:75756883 (GRCh37)
Canonical SPDI:: NC_000012.12:75363102:G:A
Gene:: CAPS2 (Varview), GLIPR1L1 (Varview), LOC124902968 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/2 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.75363103G>A, NC_000012.11:g.75756883G>A, NM_152779.4:c.523G>A, NM_152779.3:c.523G>A, NM_152779.2:c.523G>A, XM_011538134.4:c.523G>A, XM_011538134.3:c.778G>A, XM_011538134.2:c.778G>A, XM_011538134.1:c.523G>A, NM_001304964.2:c.523G>A, NM_001304964.1:c.523G>A, NP_689992.1:p.Gly175Arg, XP_011536436.3:p.Gly175Arg, NP_001291893.1:p.Gly175Arg

Select item 141873088016.

rs1418730880 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 12:75363124 (GRCh38)
12:75756904 (GRCh37)
Canonical SPDI:: NC_000012.12:75363123:CC:C
Gene:: CAPS2 (Varview), GLIPR1L1 (Varview), LOC124902968 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,frameshift_variant,upstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: -=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.75363125del, NC_000012.11:g.75756905del, NM_152779.4:c.545del, NM_152779.3:c.545del, NM_152779.2:c.545del, XM_011538134.4:c.545del, XM_011538134.3:c.800del, XM_011538134.2:c.800del, XM_011538134.1:c.545del, NM_001304964.2:c.545del, NM_001304964.1:c.545del, NP_689992.1:p.Pro182fs, XP_011536436.3:p.Pro182fs, NP_001291893.1:p.Pro182fs

Select item 140919927617.

rs1409199276 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:75343852 (GRCh38)
12:75737632 (GRCh37)
Canonical SPDI:: NC_000012.12:75343851:C:T
Gene:: CAPS2 (Varview), GLIPR1L1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.75343852C>T, NC_000012.11:g.75737632C>T, NM_152779.4:c.334C>T, NM_152779.3:c.334C>T, NM_152779.2:c.334C>T, XM_011538134.4:c.334C>T, XM_011538134.3:c.589C>T, XM_011538134.2:c.589C>T, XM_011538134.1:c.334C>T, NM_001304964.2:c.334C>T, NM_001304964.1:c.334C>T, NP_689992.1:p.His112Tyr, XP_011536436.3:p.His112Tyr, NP_001291893.1:p.His112Tyr

Select item 140566334218.

rs1405663342 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:75334860 (GRCh38)
12:75728640 (GRCh37)
Canonical SPDI:: NC_000012.12:75334859:G:C
Gene:: CAPS2 (Varview), GLIPR1L1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.75334860G>C, NC_000012.11:g.75728640G>C, NM_152779.4:c.132G>C, NM_152779.3:c.132G>C, NM_152779.2:c.132G>C, XM_011538134.4:c.132G>C, XM_011538134.3:c.387G>C, XM_011538134.2:c.387G>C, XM_011538134.1:c.132G>C, NM_001304964.2:c.132G>C, NM_001304964.1:c.132G>C, NP_689992.1:p.Trp44Cys, XP_011536436.3:p.Trp44Cys, NP_001291893.1:p.Trp44Cys

Select item 139518758219.

rs1395187582 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:75347683 (GRCh38)
12:75741463 (GRCh37)
Canonical SPDI:: NC_000012.12:75347682:G:A,NC_000012.12:75347682:G:C
Gene:: CAPS2 (Varview), GLIPR1L1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000066/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000012.12:g.75347683G>A, NC_000012.12:g.75347683G>C, NC_000012.11:g.75741463G>A, NC_000012.11:g.75741463G>C, NM_152779.4:c.482G>A, NM_152779.4:c.482G>C, NM_152779.3:c.482G>A, NM_152779.3:c.482G>C, NM_152779.2:c.482G>A, NM_152779.2:c.482G>C, XM_011538134.4:c.482G>A, XM_011538134.4:c.482G>C, XM_011538134.3:c.737G>A, XM_011538134.3:c.737G>C, XM_011538134.2:c.737G>A, XM_011538134.2:c.737G>C, XM_011538134.1:c.482G>A, XM_011538134.1:c.482G>C, NM_001304964.2:c.482G>A, NM_001304964.2:c.482G>C, NM_001304964.1:c.482G>A, NM_001304964.1:c.482G>C, NP_689992.1:p.Gly161Glu, NP_689992.1:p.Gly161Ala, XP_011536436.3:p.Gly161Glu, XP_011536436.3:p.Gly161Ala, NP_001291893.1:p.Gly161Glu, NP_001291893.1:p.Gly161Ala

Select item 139357661120.

rs1393576611 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:75334763 (GRCh38)
12:75728543 (GRCh37)
Canonical SPDI:: NC_000012.12:75334762:T:A
Gene:: CAPS2 (Varview), GLIPR1L1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.75334763T>A, NC_000012.11:g.75728543T>A, NM_152779.4:c.35T>A, NM_152779.3:c.35T>A, NM_152779.2:c.35T>A, XM_011538134.4:c.35T>A, XM_011538134.3:c.290T>A, XM_011538134.2:c.290T>A, XM_011538134.1:c.35T>A, NM_001304964.2:c.35T>A, NM_001304964.1:c.35T>A, NP_689992.1:p.Ile12Asn, XP_011536436.3:p.Ile12Asn, NP_001291893.1:p.Ile12Asn

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