SNP Links for Protein (Select 767918289) - SNP

Links from Protein

Items: 1 to 20 of 137

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Select item 14827819311.

rs1482781931 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:231926208 (GRCh38)
2:232790918 (GRCh37)
Canonical SPDI:: NC_000002.12:231926207:C:A
Gene:: NPPC (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.231926208C>A, NC_000002.11:g.232790918C>A, XM_011511245.4:c.42G>T, XM_011511245.3:c.42G>T, XM_011511245.2:c.42G>T, XM_011511245.1:c.42G>T, NM_024409.4:c.42G>T, NM_024409.3:c.42G>T, NM_024409.2:c.42G>T

Select item 14789519992.

rs1478951999 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:231925662 (GRCh38)
2:232790372 (GRCh37)
Canonical SPDI:: NC_000002.12:231925661:G:A
Gene:: NPPC (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.231925662G>A, NC_000002.11:g.232790372G>A, XM_011511245.4:c.144C>T, XM_011511245.3:c.144C>T, XM_011511245.2:c.144C>T, XM_011511245.1:c.144C>T, NM_024409.4:c.144C>T, NM_024409.3:c.144C>T, NM_024409.2:c.144C>T

Select item 14775192803.

rs1477519280 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:231926193 (GRCh38)
2:232790903 (GRCh37)
Canonical SPDI:: NC_000002.12:231926192:C:T
Gene:: NPPC (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.231926193C>T, NC_000002.11:g.232790903C>T, XM_011511245.4:c.57G>A, XM_011511245.3:c.57G>A, XM_011511245.2:c.57G>A, XM_011511245.1:c.57G>A, NM_024409.4:c.57G>A, NM_024409.3:c.57G>A, NM_024409.2:c.57G>A

Select item 14576444084.

rs1457644408 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:231925644 (GRCh38)
2:232790354 (GRCh37)
Canonical SPDI:: NC_000002.12:231925643:G:A
Gene:: NPPC (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by cluster
HGVS:: NC_000002.12:g.231925644G>A, NC_000002.11:g.232790354G>A, XM_011511245.4:c.162C>T, XM_011511245.3:c.162C>T, XM_011511245.2:c.162C>T, XM_011511245.1:c.162C>T, NM_024409.4:c.162C>T, NM_024409.3:c.162C>T, NM_024409.2:c.162C>T

Select item 14573318705.

rs1457331870 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:231926188 (GRCh38)
2:232790898 (GRCh37)
Canonical SPDI:: NC_000002.12:231926187:G:C
Gene:: NPPC (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.231926188G>C, NC_000002.11:g.232790898G>C, XM_011511245.4:c.62C>G, XM_011511245.3:c.62C>G, XM_011511245.2:c.62C>G, XM_011511245.1:c.62C>G, NM_024409.4:c.62C>G, NM_024409.3:c.62C>G, NM_024409.2:c.62C>G, XP_011509547.1:p.Ser21Cys, NP_077720.1:p.Ser21Cys

Select item 14512199536.

rs1451219953 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:231925469 (GRCh38)
2:232790179 (GRCh37)
Canonical SPDI:: NC_000002.12:231925468:G:A
Gene:: NPPC (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.231925469G>A, NC_000002.11:g.232790179G>A, XM_011511245.4:c.337C>T, XM_011511245.3:c.337C>T, XM_011511245.2:c.337C>T, XM_011511245.1:c.337C>T, NM_024409.4:c.337C>T, NM_024409.3:c.337C>T, NM_024409.2:c.337C>T, XP_011509547.1:p.Leu113Phe, NP_077720.1:p.Leu113Phe

Select item 14448334867.

rs1444833486 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:231926216 (GRCh38)
2:232790926 (GRCh37)
Canonical SPDI:: NC_000002.12:231926215:G:A
Gene:: NPPC (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.231926216G>A, NC_000002.11:g.232790926G>A, XM_011511245.4:c.34C>T, XM_011511245.3:c.34C>T, XM_011511245.2:c.34C>T, XM_011511245.1:c.34C>T, NM_024409.4:c.34C>T, NM_024409.3:c.34C>T, NM_024409.2:c.34C>T

Select item 14441226368.

rs1444122636 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:231925630 (GRCh38)
2:232790340 (GRCh37)
Canonical SPDI:: NC_000002.12:231925629:C:A,NC_000002.12:231925629:C:T
Gene:: NPPC (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.231925630C>A, NC_000002.12:g.231925630C>T, NC_000002.11:g.232790340C>A, NC_000002.11:g.232790340C>T, XM_011511245.4:c.176G>T, XM_011511245.4:c.176G>A, XM_011511245.3:c.176G>T, XM_011511245.3:c.176G>A, XM_011511245.2:c.176G>T, XM_011511245.2:c.176G>A, XM_011511245.1:c.176G>T, XM_011511245.1:c.176G>A, NM_024409.4:c.176G>T, NM_024409.4:c.176G>A, NM_024409.3:c.176G>T, NM_024409.3:c.176G>A, NM_024409.2:c.176G>T, NM_024409.2:c.176G>A, XP_011509547.1:p.Gly59Val, XP_011509547.1:p.Gly59Asp, NP_077720.1:p.Gly59Val, NP_077720.1:p.Gly59Asp

Select item 14183625329.

rs1418362532 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:231925503 (GRCh38)
2:232790213 (GRCh37)
Canonical SPDI:: NC_000002.12:231925502:G:A
Gene:: NPPC (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000002.12:g.231925503G>A, NC_000002.11:g.232790213G>A, XM_011511245.4:c.303C>T, XM_011511245.3:c.303C>T, XM_011511245.2:c.303C>T, XM_011511245.1:c.303C>T, NM_024409.4:c.303C>T, NM_024409.3:c.303C>T, NM_024409.2:c.303C>T

Select item 141591269410.

rs1415912694 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:231925622 (GRCh38)
2:232790332 (GRCh37)
Canonical SPDI:: NC_000002.12:231925621:C:A
Gene:: NPPC (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.231925622C>A, NC_000002.11:g.232790332C>A, XM_011511245.4:c.184G>T, XM_011511245.3:c.184G>T, XM_011511245.2:c.184G>T, XM_011511245.1:c.184G>T, NM_024409.4:c.184G>T, NM_024409.3:c.184G>T, NM_024409.2:c.184G>T, XP_011509547.1:p.Ala62Ser, NP_077720.1:p.Ala62Ser

Select item 141366184911.

rs1413661849 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:231926190 (GRCh38)
2:232790900 (GRCh37)
Canonical SPDI:: NC_000002.12:231926189:G:C
Gene:: NPPC (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.231926190G>C, NC_000002.11:g.232790900G>C, XM_011511245.4:c.60C>G, XM_011511245.3:c.60C>G, XM_011511245.2:c.60C>G, XM_011511245.1:c.60C>G, NM_024409.4:c.60C>G, NM_024409.3:c.60C>G, NM_024409.2:c.60C>G

Select item 141358864612.

rs1413588646 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:231925431 (GRCh38)
2:232790141 (GRCh37)
Canonical SPDI:: NC_000002.12:231925430:T:A
Gene:: NPPC (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.231925431T>A, NC_000002.11:g.232790141T>A, XM_011511245.4:c.375A>T, XM_011511245.3:c.375A>T, XM_011511245.2:c.375A>T, XM_011511245.1:c.375A>T, NM_024409.4:c.375A>T, NM_024409.3:c.375A>T, NM_024409.2:c.375A>T

Select item 140784076913.

rs1407840769 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:231925497 (GRCh38)
2:232790207 (GRCh37)
Canonical SPDI:: NC_000002.12:231925496:C:T
Gene:: NPPC (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000002.12:g.231925497C>T, NC_000002.11:g.232790207C>T, XM_011511245.4:c.309G>A, XM_011511245.3:c.309G>A, XM_011511245.2:c.309G>A, XM_011511245.1:c.309G>A, NM_024409.4:c.309G>A, NM_024409.3:c.309G>A, NM_024409.2:c.309G>A

Select item 140728108014.

rs1407281080 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:231925677 (GRCh38)
2:232790387 (GRCh37)
Canonical SPDI:: NC_000002.12:231925676:C:A
Gene:: NPPC (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000002.12:g.231925677C>A, NC_000002.11:g.232790387C>A, XM_011511245.4:c.129G>T, XM_011511245.3:c.129G>T, XM_011511245.2:c.129G>T, XM_011511245.1:c.129G>T, NM_024409.4:c.129G>T, NM_024409.3:c.129G>T, NM_024409.2:c.129G>T

Select item 140378772915.

rs1403787729 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:231925446 (GRCh38)
2:232790156 (GRCh37)
Canonical SPDI:: NC_000002.12:231925445:G:T
Gene:: NPPC (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.231925446G>T, NC_000002.11:g.232790156G>T, XM_011511245.4:c.360C>A, XM_011511245.3:c.360C>A, XM_011511245.2:c.360C>A, XM_011511245.1:c.360C>A, NM_024409.4:c.360C>A, NM_024409.3:c.360C>A, NM_024409.2:c.360C>A

Select item 139948039316.

rs1399480393 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 2:231925457 (GRCh38)
2:232790167 (GRCh37)
Canonical SPDI:: NC_000002.12:231925456:G:A,NC_000002.12:231925456:G:C,NC_000002.12:231925456:G:T
Gene:: NPPC (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.231925457G>A, NC_000002.12:g.231925457G>C, NC_000002.12:g.231925457G>T, NC_000002.11:g.232790167G>A, NC_000002.11:g.232790167G>C, NC_000002.11:g.232790167G>T, XM_011511245.4:c.349C>T, XM_011511245.4:c.349C>G, XM_011511245.4:c.349C>A, XM_011511245.3:c.349C>T, XM_011511245.3:c.349C>G, XM_011511245.3:c.349C>A, XM_011511245.2:c.349C>T, XM_011511245.2:c.349C>G, XM_011511245.2:c.349C>A, XM_011511245.1:c.349C>T, XM_011511245.1:c.349C>G, XM_011511245.1:c.349C>A, NM_024409.4:c.349C>T, NM_024409.4:c.349C>G, NM_024409.4:c.349C>A, NM_024409.3:c.349C>T, NM_024409.3:c.349C>G, NM_024409.3:c.349C>A, NM_024409.2:c.349C>T, NM_024409.2:c.349C>G, NM_024409.2:c.349C>A, XP_011509547.1:p.Arg117Ter, XP_011509547.1:p.Arg117Gly, NP_077720.1:p.Arg117Ter, NP_077720.1:p.Arg117Gly

Select item 139932564117.

rs1399325641 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:231925628 (GRCh38)
2:232790338 (GRCh37)
Canonical SPDI:: NC_000002.12:231925627:C:A,NC_000002.12:231925627:C:T
Gene:: NPPC (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.231925628C>A, NC_000002.12:g.231925628C>T, NC_000002.11:g.232790338C>A, NC_000002.11:g.232790338C>T, XM_011511245.4:c.178G>T, XM_011511245.4:c.178G>A, XM_011511245.3:c.178G>T, XM_011511245.3:c.178G>A, XM_011511245.2:c.178G>T, XM_011511245.2:c.178G>A, XM_011511245.1:c.178G>T, XM_011511245.1:c.178G>A, NM_024409.4:c.178G>T, NM_024409.4:c.178G>A, NM_024409.3:c.178G>T, NM_024409.3:c.178G>A, NM_024409.2:c.178G>T, NM_024409.2:c.178G>A, XP_011509547.1:p.Gly60Trp, XP_011509547.1:p.Gly60Arg, NP_077720.1:p.Gly60Trp, NP_077720.1:p.Gly60Arg

Select item 139678941818.

rs1396789418 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:231925669 (GRCh38)
2:232790379 (GRCh37)
Canonical SPDI:: NC_000002.12:231925668:G:C
Gene:: NPPC (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000029/1 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000002.12:g.231925669G>C, NC_000002.11:g.232790379G>C, XM_011511245.4:c.137C>G, XM_011511245.3:c.137C>G, XM_011511245.2:c.137C>G, XM_011511245.1:c.137C>G, NM_024409.4:c.137C>G, NM_024409.3:c.137C>G, NM_024409.2:c.137C>G, XP_011509547.1:p.Ala46Gly, NP_077720.1:p.Ala46Gly

Select item 138612266619.

rs1386122666 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:231925529 (GRCh38)
2:232790239 (GRCh37)
Canonical SPDI:: NC_000002.12:231925528:G:A
Gene:: NPPC (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.231925529G>A, NC_000002.11:g.232790239G>A, XM_011511245.4:c.277C>T, XM_011511245.3:c.277C>T, XM_011511245.2:c.277C>T, XM_011511245.1:c.277C>T, NM_024409.4:c.277C>T, NM_024409.3:c.277C>T, NM_024409.2:c.277C>T, XP_011509547.1:p.Pro93Ser, NP_077720.1:p.Pro93Ser

Select item 138529747220.

rs1385297472 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:231926189 (GRCh38)
2:232790899 (GRCh37)
Canonical SPDI:: NC_000002.12:231926188:A:G
Gene:: NPPC (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.231926189A>G, NC_000002.11:g.232790899A>G, XM_011511245.4:c.61T>C, XM_011511245.3:c.61T>C, XM_011511245.2:c.61T>C, XM_011511245.1:c.61T>C, NM_024409.4:c.61T>C, NM_024409.3:c.61T>C, NM_024409.2:c.61T>C, XP_011509547.1:p.Ser21Pro, NP_077720.1:p.Ser21Pro

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