SNP Links for Protein (Select 304376266) - SNP

Links from Protein

Items: 1 to 20 of 670

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Select item 14907458391.

rs1490745839 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:232520649 (GRCh38)
2:233385359 (GRCh37)
Canonical SPDI:: NC_000002.12:232520648:C:A
Gene:: PRSS56 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.232520649C>A, NC_000002.11:g.233385359C>A, NG_031969.1:g.5187C>A, NM_001195129.2:c.51C>A, NM_001195129.1:c.51C>A, NM_001369848.1:c.51C>A, XM_047445431.1:c.51C>A

Select item 14906781832.

rs1490678183 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:232522125 (GRCh38)
2:233386835 (GRCh37)
Canonical SPDI:: NC_000002.12:232522124:C:T
Gene:: PRSS56 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000009/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.232522125C>T, NC_000002.11:g.233386835C>T, NG_008028.1:g.914C>T, NG_031969.1:g.6663C>T, NM_001195129.2:c.411C>T, NM_001195129.1:c.411C>T, NM_001369848.1:c.411C>T, XM_047445431.1:c.411C>T

Select item 14901889933.

rs1490188993 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:232522718 (GRCh38)
2:233387428 (GRCh37)
Canonical SPDI:: NC_000002.12:232522717:T:G
Gene:: PRSS56 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.232522718T>G, NC_000002.11:g.233387428T>G, NG_008028.1:g.1507T>G, NG_031969.1:g.7256T>G, NM_001195129.2:c.563T>G, NM_001195129.1:c.563T>G, NM_001369848.1:c.563T>G, XM_047445431.1:c.563T>G, NP_001182058.1:p.Phe188Cys, NP_001356777.1:p.Phe188Cys, XP_047301387.1:p.Phe188Cys

Select item 14880563214.

rs1488056321 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:232522826 (GRCh38)
2:233387536 (GRCh37)
Canonical SPDI:: NC_000002.12:232522825:C:T
Gene:: PRSS56 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.232522826C>T, NC_000002.11:g.233387536C>T, NG_008028.1:g.1615C>T, NG_031969.1:g.7364C>T, NM_001195129.2:c.671C>T, NM_001195129.1:c.671C>T, NM_001369848.1:c.671C>T, XM_047445431.1:c.671C>T, NP_001182058.1:p.Ala224Val, NP_001356777.1:p.Ala224Val, XP_047301387.1:p.Ala224Val

Select item 14839758265.

rs1483975826 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:232522750 (GRCh38)
2:233387460 (GRCh37)
Canonical SPDI:: NC_000002.12:232522749:A:G
Gene:: PRSS56 (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_000002.12:g.232522750A>G, NC_000002.11:g.233387460A>G, NG_008028.1:g.1539A>G, NG_031969.1:g.7288A>G, NM_001195129.2:c.595A>G, NM_001195129.1:c.595A>G, NM_001369848.1:c.595A>G, XM_047445431.1:c.595A>G, NP_001182058.1:p.Thr199Ala, NP_001356777.1:p.Thr199Ala, XP_047301387.1:p.Thr199Ala

Select item 14824514066.

rs1482451406 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:232525312 (GRCh38)
2:233390022 (GRCh37)
Canonical SPDI:: NC_000002.12:232525311:G:A
Gene:: CHRND (Varview), PRSS56 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000008/1 (GnomAD_exomes)
A=0.000142/2 (TOMMO)
HGVS:: NC_000002.12:g.232525312G>A, NC_000002.11:g.233390022G>A, NG_008028.1:g.4101G>A, NG_031969.1:g.9850G>A, NM_001195129.2:c.1618G>A, NM_001195129.1:c.1618G>A, NM_001369848.1:c.1621G>A, XM_047445431.1:c.1714G>A, NP_001182058.1:p.Val540Met, NP_001356777.1:p.Val541Met, XP_047301387.1:p.Val572Met

Select item 14824218287.

rs1482421828 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:232524099 (GRCh38)
2:233388809 (GRCh37)
Canonical SPDI:: NC_000002.12:232524098:G:A,NC_000002.12:232524098:G:T
Gene:: PRSS56 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.00004/1 (TOMMO)
HGVS:: NC_000002.12:g.232524099G>A, NC_000002.12:g.232524099G>T, NC_000002.11:g.233388809G>A, NC_000002.11:g.233388809G>T, NG_008028.1:g.2888G>A, NG_008028.1:g.2888G>T, NG_031969.1:g.8637G>A, NG_031969.1:g.8637G>T, NM_001195129.2:c.1247G>A, NM_001195129.2:c.1247G>T, NM_001195129.1:c.1247G>A, NM_001195129.1:c.1247G>T, NM_001369848.1:c.1250G>A, NM_001369848.1:c.1250G>T, XM_047445431.1:c.1343G>A, XM_047445431.1:c.1343G>T, NP_001182058.1:p.Gly416Glu, NP_001182058.1:p.Gly416Val, NP_001356777.1:p.Gly417Glu, NP_001356777.1:p.Gly417Val, XP_047301387.1:p.Gly448Glu, XP_047301387.1:p.Gly448Val

Select item 14820984848.

rs1482098484 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:232524043 (GRCh38)
2:233388753 (GRCh37)
Canonical SPDI:: NC_000002.12:232524042:G:A
Gene:: PRSS56 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.232524043G>A, NC_000002.11:g.233388753G>A, NG_008028.1:g.2832G>A, NG_031969.1:g.8581G>A, NM_001195129.2:c.1191G>A, NM_001195129.1:c.1191G>A, NM_001369848.1:c.1194G>A, XM_047445431.1:c.1287G>A

Select item 14819659229.

rs1481965922 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:232525243 (GRCh38)
2:233389953 (GRCh37)
Canonical SPDI:: NC_000002.12:232525242:C:A
Gene:: CHRND (Varview), PRSS56 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.232525243C>A, NC_000002.11:g.233389953C>A, NG_008028.1:g.4032C>A, NG_031969.1:g.9781C>A, NM_001195129.2:c.1549C>A, NM_001195129.1:c.1549C>A, NM_001369848.1:c.1552C>A, XM_047445431.1:c.1645C>A, NP_001182058.1:p.Leu517Met, NP_001356777.1:p.Leu518Met, XP_047301387.1:p.Leu549Met

Select item 148180771710.

rs1481807717 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:232525327 (GRCh38)
2:233390037 (GRCh37)
Canonical SPDI:: NC_000002.12:232525326:G:A
Gene:: CHRND (Varview), PRSS56 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.232525327G>A, NC_000002.11:g.233390037G>A, NG_008028.1:g.4116G>A, NG_031969.1:g.9865G>A, NM_001195129.2:c.1633G>A, NM_001195129.1:c.1633G>A, NM_001369848.1:c.1636G>A, XM_047445431.1:c.1729G>A, NP_001182058.1:p.Ala545Thr, NP_001356777.1:p.Ala546Thr, XP_047301387.1:p.Ala577Thr

Select item 148095410011.

rs1480954100 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:232525417 (GRCh38)
2:233390127 (GRCh37)
Canonical SPDI:: NC_000002.12:232525416:C:A
Gene:: CHRND (Varview), PRSS56 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.232525417C>A, NC_000002.11:g.233390127C>A, NG_008028.1:g.4206C>A, NG_031969.1:g.9955C>A, NM_001195129.2:c.1723C>A, NM_001195129.1:c.1723C>A, NM_001369848.1:c.1726C>A, XM_047445431.1:c.1819C>A, NP_001182058.1:p.Pro575Thr, NP_001356777.1:p.Pro576Thr, XP_047301387.1:p.Pro607Thr

Select item 148012707112.

rs1480127071 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:232523100 (GRCh38)
2:233387810 (GRCh37)
Canonical SPDI:: NC_000002.12:232523099:C:T
Gene:: PRSS56 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.232523100C>T, NC_000002.11:g.233387810C>T, NG_008028.1:g.1889C>T, NG_031969.1:g.7638C>T, NM_001195129.2:c.747C>T, NM_001195129.1:c.747C>T, NM_001369848.1:c.747C>T, XM_047445431.1:c.747C>T

Select item 147973610013.

rs1479736100 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:232522055 (GRCh38)
2:233386765 (GRCh37)
Canonical SPDI:: NC_000002.12:232522054:G:A
Gene:: PRSS56 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.232522055G>A, NC_000002.11:g.233386765G>A, NG_008028.1:g.844G>A, NG_031969.1:g.6593G>A, NM_001195129.2:c.341G>A, NM_001195129.1:c.341G>A, NM_001369848.1:c.341G>A, XM_047445431.1:c.341G>A, NP_001182058.1:p.Gly114Glu, NP_001356777.1:p.Gly114Glu, XP_047301387.1:p.Gly114Glu

Select item 147777865214.

rs1477778652 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCACTGTACACAC>- [Show Flanks]
Chromosome:: 2:232520659 (GRCh38)
2:233385369 (GRCh37)
Canonical SPDI:: NC_000002.12:232520655:CACCCACTGTACACAC:CAC
Gene:: PRSS56 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.232520659_232520671del, NC_000002.11:g.233385369_233385381del, NG_031969.1:g.5197_5209del, NM_001195129.2:c.61_73del, NM_001195129.1:c.61_73del, NM_001369848.1:c.61_73del, XM_047445431.1:c.61_73del, NP_001182058.1:p.Pro21fs, NP_001356777.1:p.Pro21fs, XP_047301387.1:p.Pro21fs

Select item 147614798315.

rs1476147983 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:232520682 (GRCh38)
2:233385392 (GRCh37)
Canonical SPDI:: NC_000002.12:232520681:C:T
Gene:: PRSS56 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.232520682C>T, NC_000002.11:g.233385392C>T, NG_031969.1:g.5220C>T, NM_001195129.2:c.84C>T, NM_001195129.1:c.84C>T, NM_001369848.1:c.84C>T, XM_047445431.1:c.84C>T

Select item 147540507616.

rs1475405076 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:232522139 (GRCh38)
2:233386849 (GRCh37)
Canonical SPDI:: NC_000002.12:232522138:C:A
Gene:: PRSS56 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
A=0.000036/4 (GnomAD_exomes)
HGVS:: NC_000002.12:g.232522139C>A, NC_000002.11:g.233386849C>A, NG_008028.1:g.928C>A, NG_031969.1:g.6677C>A, NM_001195129.2:c.425C>A, NM_001195129.1:c.425C>A, NM_001369848.1:c.425C>A, XM_047445431.1:c.425C>A, NP_001182058.1:p.Thr142Lys, NP_001356777.1:p.Thr142Lys, XP_047301387.1:p.Thr142Lys

Select item 147263938217.

rs1472639382 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:232523117 (GRCh38)
2:233387827 (GRCh37)
Canonical SPDI:: NC_000002.12:232523116:C:T
Gene:: PRSS56 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000015/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.232523117C>T, NC_000002.11:g.233387827C>T, NG_008028.1:g.1906C>T, NG_031969.1:g.7655C>T, NM_001195129.2:c.764C>T, NM_001195129.1:c.764C>T, NM_001369848.1:c.764C>T, XM_047445431.1:c.764C>T, NP_001182058.1:p.Thr255Ile, NP_001356777.1:p.Thr255Ile, XP_047301387.1:p.Thr255Ile

Select item 146926780418.

rs1469267804 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:232522592 (GRCh38)
2:233387302 (GRCh37)
Canonical SPDI:: NC_000002.12:232522591:A:G
Gene:: PRSS56 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.232522592A>G, NC_000002.11:g.233387302A>G, NG_008028.1:g.1381A>G, NG_031969.1:g.7130A>G, NM_001195129.2:c.524A>G, NM_001195129.1:c.524A>G, NM_001369848.1:c.524A>G, XM_047445431.1:c.524A>G, NP_001182058.1:p.Asn175Ser, NP_001356777.1:p.Asn175Ser, XP_047301387.1:p.Asn175Ser

Select item 146863094219.

rs1468630942 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:232522581 (GRCh38)
2:233387291 (GRCh37)
Canonical SPDI:: NC_000002.12:232522580:G:A
Gene:: PRSS56 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.232522581G>A, NC_000002.11:g.233387291G>A, NG_008028.1:g.1370G>A, NG_031969.1:g.7119G>A, NM_001195129.2:c.513G>A, NM_001195129.1:c.513G>A, NM_001369848.1:c.513G>A, XM_047445431.1:c.513G>A

Select item 146852020620.

rs1468520206 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:232523129 (GRCh38)
2:233387839 (GRCh37)
Canonical SPDI:: NC_000002.12:232523128:C:T
Gene:: PRSS56 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.232523129C>T, NC_000002.11:g.233387839C>T, NG_008028.1:g.1918C>T, NG_031969.1:g.7667C>T, NM_001195129.2:c.776C>T, NM_001195129.1:c.776C>T, NM_001369848.1:c.776C>T, XM_047445431.1:c.776C>T, NP_001182058.1:p.Ala259Val, NP_001356777.1:p.Ala259Val, XP_047301387.1:p.Ala259Val

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