SNP Links for Protein (Select 29789451) - SNP

Links from Protein

Items: 1 to 20 of 403

<< First< Prev

Page of 21

Next >Last >>

Select item 14903175121.

rs1490317512 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:134969960 (GRCh38)
5:134305650 (GRCh37)
Canonical SPDI:: NC_000005.10:134969959:G:A
Gene:: CATSPER3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.134969960G>A, NC_000005.9:g.134305650G>A, NM_178019.3:c.120G>A, NM_178019.2:c.120G>A

Select item 14898823702.

rs1489882370 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:134996439 (GRCh38)
5:134332129 (GRCh37)
Canonical SPDI:: NC_000005.10:134996438:C:T
Gene:: CATSPER3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.134996439C>T, NC_000005.9:g.134332129C>T, NM_178019.3:c.419C>T, NM_178019.2:c.419C>T, NP_821138.1:p.Thr140Ile

Select item 14886891913.

rs1488689191 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:135011579 (GRCh38)
5:134347269 (GRCh37)
Canonical SPDI:: NC_000005.10:135011578:C:T
Gene:: CATSPER3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.135011579C>T, NC_000005.9:g.134347269C>T, NM_178019.3:c.1153C>T, NM_178019.2:c.1153C>T, NP_821138.1:p.Pro385Ser

Select item 14851595894.

rs1485159589 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:135008000 (GRCh38)
5:134343690 (GRCh37)
Canonical SPDI:: NC_000005.10:135007999:C:T
Gene:: CATSPER3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.135008000C>T, NC_000005.9:g.134343690C>T, NM_178019.3:c.536C>T, NM_178019.2:c.536C>T, NP_821138.1:p.Ser179Phe

Select item 14836064605.

rs1483606460 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:134968049 (GRCh38)
5:134303739 (GRCh37)
Canonical SPDI:: NC_000005.10:134968048:A:G
Gene:: CATSPER3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.134968049A>G, NC_000005.9:g.134303739A>G, NM_178019.3:c.58A>G, NM_178019.2:c.58A>G, NP_821138.1:p.Thr20Ala

Select item 14800507516.

rs1480050751 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:134969952 (GRCh38)
5:134305642 (GRCh37)
Canonical SPDI:: NC_000005.10:134969951:G:A
Gene:: CATSPER3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.134969952G>A, NC_000005.9:g.134305642G>A, NM_178019.3:c.112G>A, NM_178019.2:c.112G>A, NP_821138.1:p.Glu38Lys

Select item 14772411587.

rs1477241158 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:135011610 (GRCh38)
5:134347300 (GRCh37)
Canonical SPDI:: NC_000005.10:135011609:T:C
Gene:: CATSPER3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.135011610T>C, NC_000005.9:g.134347300T>C, NM_178019.3:c.1184T>C, NM_178019.2:c.1184T>C, NP_821138.1:p.Val395Ala

Select item 14697982408.

rs1469798240 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:134996458 (GRCh38)
5:134332148 (GRCh37)
Canonical SPDI:: NC_000005.10:134996457:T:C
Gene:: CATSPER3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.134996458T>C, NC_000005.9:g.134332148T>C, NM_178019.3:c.438T>C, NM_178019.2:c.438T>C

Select item 14650997609.

rs1465099760 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:134968084 (GRCh38)
5:134303774 (GRCh37)
Canonical SPDI:: NC_000005.10:134968083:A:G
Gene:: CATSPER3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.134968084A>G, NC_000005.9:g.134303774A>G, NM_178019.3:c.93A>G, NM_178019.2:c.93A>G

Select item 146453019710.

rs1464530197 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:134968073 (GRCh38)
5:134303763 (GRCh37)
Canonical SPDI:: NC_000005.10:134968072:A:G
Gene:: CATSPER3 (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=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.134968073A>G, NC_000005.9:g.134303763A>G, NM_178019.3:c.82A>G, NM_178019.2:c.82A>G, NP_821138.1:p.Thr28Ala

Select item 146375556311.

rs1463755563 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:135009431 (GRCh38)
5:134345121 (GRCh37)
Canonical SPDI:: NC_000005.10:135009430:G:T
Gene:: CATSPER3 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
HGVS:: NC_000005.10:g.135009431G>T, NC_000005.9:g.134345121G>T, NM_178019.3:c.877G>T, NM_178019.2:c.877G>T, NP_821138.1:p.Glu293Ter

Select item 145047458312.

rs1450474583 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:135010400 (GRCh38)
5:134346090 (GRCh37)
Canonical SPDI:: NC_000005.10:135010399:G:A
Gene:: CATSPER3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.135010400G>A, NC_000005.9:g.134346090G>A, NM_178019.3:c.964G>A, NM_178019.2:c.964G>A, NP_821138.1:p.Glu322Lys

Select item 144984799413.

rs1449847994 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:135009425 (GRCh38)
5:134345115 (GRCh37)
Canonical SPDI:: NC_000005.10:135009424:A:T
Gene:: CATSPER3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.135009425A>T, NC_000005.9:g.134345115A>T, NM_178019.3:c.871A>T, NM_178019.2:c.871A>T, NP_821138.1:p.Met291Leu

Select item 144639286914.

rs1446392869 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:135008908 (GRCh38)
5:134344598 (GRCh37)
Canonical SPDI:: NC_000005.10:135008907:C:A
Gene:: CATSPER3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.135008908C>A, NC_000005.9:g.134344598C>A, NM_178019.3:c.743C>A, NM_178019.2:c.743C>A, NP_821138.1:p.Thr248Asn

Select item 144554909515.

rs1445549095 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:134996469 (GRCh38)
5:134332159 (GRCh37)
Canonical SPDI:: NC_000005.10:134996468:C:T
Gene:: CATSPER3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000005.10:g.134996469C>T, NC_000005.9:g.134332159C>T, NM_178019.3:c.449C>T, NM_178019.2:c.449C>T, NP_821138.1:p.Ser150Phe

Select item 144526748216.

rs1445267482 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:135008979 (GRCh38)
5:134344669 (GRCh37)
Canonical SPDI:: NC_000005.10:135008978:G:C
Gene:: CATSPER3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.135008979G>C, NC_000005.9:g.134344669G>C, NM_178019.3:c.814G>C, NM_178019.2:c.814G>C, NP_821138.1:p.Glu272Gln

Select item 144490455117.

rs1444904551 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:134996409 (GRCh38)
5:134332099 (GRCh37)
Canonical SPDI:: NC_000005.10:134996408:C:A,NC_000005.10:134996408:C:T
Gene:: CATSPER3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.134996409C>A, NC_000005.10:g.134996409C>T, NC_000005.9:g.134332099C>A, NC_000005.9:g.134332099C>T, NM_178019.3:c.389C>A, NM_178019.3:c.389C>T, NM_178019.2:c.389C>A, NM_178019.2:c.389C>T, NP_821138.1:p.Ala130Asp, NP_821138.1:p.Ala130Val

Select item 144302193118.

rs1443021931 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:134970008 (GRCh38)
5:134305698 (GRCh37)
Canonical SPDI:: NC_000005.10:134970007:G:A
Gene:: CATSPER3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.134970008G>A, NC_000005.9:g.134305698G>A, NM_178019.3:c.168G>A, NM_178019.2:c.168G>A, NP_821138.1:p.Met56Ile

Select item 144297774619.

rs1442977746 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:135010512 (GRCh38)
5:134346202 (GRCh37)
Canonical SPDI:: NC_000005.10:135010511:A:C
Gene:: CATSPER3 (Varview)
Functional Consequence:: coding_sequence_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_000005.10:g.135010512A>C, NC_000005.9:g.134346202A>C, NM_178019.3:c.1076A>C, NM_178019.2:c.1076A>C, NP_821138.1:p.Gln359Pro

Select item 143796148020.

rs1437961480 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 5:135011539 (GRCh38)
5:134347229 (GRCh37)
Canonical SPDI:: NC_000005.10:135011538:T:C,NC_000005.10:135011538:T:G
Gene:: CATSPER3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
G=0.000212/6 (TOMMO)
HGVS:: NC_000005.10:g.135011539T>C, NC_000005.10:g.135011539T>G, NC_000005.9:g.134347229T>C, NC_000005.9:g.134347229T>G, NM_178019.3:c.1113T>C, NM_178019.3:c.1113T>G, NM_178019.2:c.1113T>C, NM_178019.2:c.1113T>G, NP_821138.1:p.Tyr371Ter

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 403

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity