SNP Links for Protein (Select 4506137) - SNP

Links from Protein

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Select item 14808971881.

rs1480897188 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49583278 (GRCh38)
19:50086535 (GRCh37)
Canonical SPDI:: NC_000019.10:49583277:C:T
Gene:: PRRG2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_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_000019.10:g.49583278C>T, NC_000019.9:g.50086535C>T, NM_000951.3:c.59C>T, NM_000951.2:c.59C>T, NM_001316335.2:c.-178C>T, NM_001316335.1:c.-178C>T, XM_006723286.2:c.59C>T, XM_006723286.1:c.59C>T, XM_011527124.2:c.-163C>T, XM_011527124.1:c.-163C>T, NP_000942.1:p.Thr20Ile, XP_006723349.1:p.Thr20Ile

Select item 14790963032.

rs1479096303 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49588616 (GRCh38)
19:50091873 (GRCh37)
Canonical SPDI:: NC_000019.10:49588615:C:T
Gene:: PRRG2 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.0007/2 (KOREAN)
T=0.0011/2 (Korea1K)
HGVS:: NC_000019.10:g.49588616C>T, NC_000019.9:g.50091873C>T, NG_051202.1:g.2440C>T, NM_000951.3:c.421C>T, NM_000951.2:c.421C>T, NM_001316335.2:c.352C>T, NM_001316335.1:c.352C>T, XM_006723286.2:c.421C>T, XM_006723286.1:c.421C>T, XM_011527124.2:c.352C>T, XM_011527124.1:c.352C>T, NP_000942.1:p.Gln141Ter, NP_001303264.1:p.Gln118Ter, XP_006723349.1:p.Gln141Ter, XP_011525426.1:p.Gln118Ter

Select item 14786979823.

rs1478697982 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49590050 (GRCh38)
19:50093307 (GRCh37)
Canonical SPDI:: NC_000019.10:49590049:C:T
Gene:: PRRG2 (Varview), PRR12 (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.00004/1 (TOMMO)
HGVS:: NC_000019.10:g.49590050C>T, NC_000019.9:g.50093307C>T, NG_051202.1:g.3874C>T, NM_000951.3:c.588C>T, NM_000951.2:c.588C>T, NM_001316335.2:c.519C>T, NM_001316335.1:c.519C>T, XM_006723286.2:c.588C>T, XM_006723286.1:c.588C>T, XM_011527124.2:c.519C>T, XM_011527124.1:c.519C>T

Select item 14773213124.

rs1477321312 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:49590018 (GRCh38)
19:50093275 (GRCh37)
Canonical SPDI:: NC_000019.10:49590017:G:A
Gene:: PRRG2 (Varview), PRR12 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.49590018G>A, NC_000019.9:g.50093275G>A, NG_051202.1:g.3842G>A, NM_000951.3:c.556G>A, NM_000951.2:c.556G>A, NM_001316335.2:c.487G>A, NM_001316335.1:c.487G>A, XM_006723286.2:c.556G>A, XM_006723286.1:c.556G>A, XM_011527124.2:c.487G>A, XM_011527124.1:c.487G>A, NP_000942.1:p.Gly186Arg, NP_001303264.1:p.Gly163Arg, XP_006723349.1:p.Gly186Arg, XP_011525426.1:p.Gly163Arg

Select item 14719769355.

rs1471976935 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:49583936 (GRCh38)
19:50087193 (GRCh37)
Canonical SPDI:: NC_000019.10:49583935:C:A
Gene:: PRRG2 (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)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.49583936C>A, NC_000019.9:g.50087193C>A, NM_000951.3:c.285C>A, NM_000951.2:c.285C>A, NM_001316335.2:c.216C>A, NM_001316335.1:c.216C>A, XM_006723286.2:c.285C>A, XM_006723286.1:c.285C>A, XM_011527124.2:c.216C>A, XM_011527124.1:c.216C>A

Select item 14656368246.

rs1465636824 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49589958 (GRCh38)
19:50093215 (GRCh37)
Canonical SPDI:: NC_000019.10:49589957:C:T
Gene:: PRRG2 (Varview), PRR12 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_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_000019.10:g.49589958C>T, NC_000019.9:g.50093215C>T, NG_051202.1:g.3782C>T, NM_000951.3:c.496C>T, NM_000951.2:c.496C>T, NM_001316335.2:c.427C>T, NM_001316335.1:c.427C>T, XM_006723286.2:c.496C>T, XM_006723286.1:c.496C>T, XM_011527124.2:c.427C>T, XM_011527124.1:c.427C>T, NP_000942.1:p.Pro166Ser, NP_001303264.1:p.Pro143Ser, XP_006723349.1:p.Pro166Ser, XP_011525426.1:p.Pro143Ser

Select item 14642691517.

rs1464269151 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49583266 (GRCh38)
19:50086523 (GRCh37)
Canonical SPDI:: NC_000019.10:49583265:C:T
Gene:: PRRG2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49583266C>T, NC_000019.9:g.50086523C>T, NM_000951.3:c.47C>T, NM_000951.2:c.47C>T, NM_001316335.2:c.-190C>T, NM_001316335.1:c.-190C>T, XM_006723286.2:c.47C>T, XM_006723286.1:c.47C>T, XM_011527124.2:c.-175C>T, XM_011527124.1:c.-175C>T, NP_000942.1:p.Thr16Ile, XP_006723349.1:p.Thr16Ile

Select item 14634595788.

rs1463459578 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:49588564 (GRCh38)
19:50091821 (GRCh37)
Canonical SPDI:: NC_000019.10:49588563:G:A
Gene:: PRRG2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.49588564G>A, NC_000019.9:g.50091821G>A, NG_051202.1:g.2388G>A, NM_000951.3:c.369G>A, NM_000951.2:c.369G>A, NM_001316335.2:c.300G>A, NM_001316335.1:c.300G>A, XM_006723286.2:c.369G>A, XM_006723286.1:c.369G>A, XM_011527124.2:c.300G>A, XM_011527124.1:c.300G>A

Select item 14606611749.

rs1460661174 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49589903 (GRCh38)
19:50093160 (GRCh37)
Canonical SPDI:: NC_000019.10:49589902:C:T
Gene:: PRRG2 (Varview), PRR12 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.49589903C>T, NC_000019.9:g.50093160C>T, NG_051202.1:g.3727C>T, NM_000951.3:c.441C>T, NM_000951.2:c.441C>T, NM_001316335.2:c.372C>T, NM_001316335.1:c.372C>T, XM_006723286.2:c.441C>T, XM_006723286.1:c.441C>T, XM_011527124.2:c.372C>T, XM_011527124.1:c.372C>T

Select item 146048810810.

rs1460488108 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:49588529 (GRCh38)
19:50091786 (GRCh37)
Canonical SPDI:: NC_000019.10:49588528:G:A
Gene:: PRRG2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.49588529G>A, NC_000019.9:g.50091786G>A, NG_051202.1:g.2353G>A, NM_000951.3:c.334G>A, NM_000951.2:c.334G>A, NM_001316335.2:c.265G>A, NM_001316335.1:c.265G>A, XM_006723286.2:c.334G>A, XM_006723286.1:c.334G>A, XM_011527124.2:c.265G>A, XM_011527124.1:c.265G>A, NP_000942.1:p.Val112Met, NP_001303264.1:p.Val89Met, XP_006723349.1:p.Val112Met, XP_011525426.1:p.Val89Met

Select item 145690014511.

rs1456900145 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:49588501 (GRCh38)
19:50091758 (GRCh37)
Canonical SPDI:: NC_000019.10:49588500:T:C
Gene:: PRRG2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000019.10:g.49588501T>C, NC_000019.9:g.50091758T>C, NG_051202.1:g.2325T>C, NM_000951.3:c.306T>C, NM_000951.2:c.306T>C, NM_001316335.2:c.237T>C, NM_001316335.1:c.237T>C, XM_006723286.2:c.306T>C, XM_006723286.1:c.306T>C, XM_011527124.2:c.237T>C, XM_011527124.1:c.237T>C

Select item 145088910812.

rs1450889108 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCCACC [Show Flanks]
Chromosome:: 19:49589966 (GRCh38)
19:50093224 (GRCh37)
Canonical SPDI:: NC_000019.10:49589966:CCACC:CCACCGCCACC
Gene:: PRRG2 (Varview), PRR12 (Varview)
Functional Consequence:: inframe_insertion,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: CCACCG=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49589971_49589972insGCCACC, NC_000019.9:g.50093228_50093229insGCCACC, NG_051202.1:g.3795_3796insGCCACC, NM_000951.3:c.509_510insGCCACC, NM_000951.2:c.509_510insGCCACC, NM_001316335.2:c.440_441insGCCACC, NM_001316335.1:c.440_441insGCCACC, XM_006723286.2:c.509_510insGCCACC, XM_006723286.1:c.509_510insGCCACC, XM_011527124.2:c.440_441insGCCACC, XM_011527124.1:c.440_441insGCCACC, NP_000942.1:p.Pro172_Pro173dup, NP_001303264.1:p.Pro149_Pro150dup, XP_006723349.1:p.Pro172_Pro173dup, XP_011525426.1:p.Pro149_Pro150dup

Select item 144901675813.

rs1449016758 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:49583921 (GRCh38)
19:50087178 (GRCh37)
Canonical SPDI:: NC_000019.10:49583920:T:C
Gene:: PRRG2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49583921T>C, NC_000019.9:g.50087178T>C, NM_000951.3:c.270T>C, NM_000951.2:c.270T>C, NM_001316335.2:c.201T>C, NM_001316335.1:c.201T>C, XM_006723286.2:c.270T>C, XM_006723286.1:c.270T>C, XM_011527124.2:c.201T>C, XM_011527124.1:c.201T>C

Select item 144719280514.

rs1447192805 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:49590044 (GRCh38)
19:50093301 (GRCh37)
Canonical SPDI:: NC_000019.10:49590043:C:A,NC_000019.10:49590043:C:T
Gene:: PRRG2 (Varview), PRR12 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.49590044C>A, NC_000019.10:g.49590044C>T, NC_000019.9:g.50093301C>A, NC_000019.9:g.50093301C>T, NG_051202.1:g.3868C>A, NG_051202.1:g.3868C>T, NM_000951.3:c.582C>A, NM_000951.3:c.582C>T, NM_000951.2:c.582C>A, NM_000951.2:c.582C>T, NM_001316335.2:c.513C>A, NM_001316335.2:c.513C>T, NM_001316335.1:c.513C>A, NM_001316335.1:c.513C>T, XM_006723286.2:c.582C>A, XM_006723286.2:c.582C>T, XM_006723286.1:c.582C>A, XM_006723286.1:c.582C>T, XM_011527124.2:c.513C>A, XM_011527124.2:c.513C>T, XM_011527124.1:c.513C>A, XM_011527124.1:c.513C>T

Select item 144692212715.

rs1446922127 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:49589908 (GRCh38)
19:50093165 (GRCh37)
Canonical SPDI:: NC_000019.10:49589907:T:C
Gene:: PRRG2 (Varview), PRR12 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49589908T>C, NC_000019.9:g.50093165T>C, NG_051202.1:g.3732T>C, NM_000951.3:c.446T>C, NM_000951.2:c.446T>C, NM_001316335.2:c.377T>C, NM_001316335.1:c.377T>C, XM_006723286.2:c.446T>C, XM_006723286.1:c.446T>C, XM_011527124.2:c.377T>C, XM_011527124.1:c.377T>C, NP_000942.1:p.Leu149Pro, NP_001303264.1:p.Leu126Pro, XP_006723349.1:p.Leu149Pro, XP_011525426.1:p.Leu126Pro

Select item 143318745116.

rs1433187451 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49590024 (GRCh38)
19:50093281 (GRCh37)
Canonical SPDI:: NC_000019.10:49590023:C:T
Gene:: PRRG2 (Varview), PRR12 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49590024C>T, NC_000019.9:g.50093281C>T, NG_051202.1:g.3848C>T, NM_000951.3:c.562C>T, NM_000951.2:c.562C>T, NM_001316335.2:c.493C>T, NM_001316335.1:c.493C>T, XM_006723286.2:c.562C>T, XM_006723286.1:c.562C>T, XM_011527124.2:c.493C>T, XM_011527124.1:c.493C>T, NP_000942.1:p.His188Tyr, NP_001303264.1:p.His165Tyr, XP_006723349.1:p.His188Tyr, XP_011525426.1:p.His165Tyr

Select item 142297463817.

rs1422974638 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:49583576 (GRCh38)
19:50086833 (GRCh37)
Canonical SPDI:: NC_000019.10:49583575:C:G,NC_000019.10:49583575:C:T
Gene:: PRRG2 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.49583576C>G, NC_000019.10:g.49583576C>T, NC_000019.9:g.50086833C>G, NC_000019.9:g.50086833C>T, NM_000951.3:c.120C>G, NM_000951.3:c.120C>T, NM_000951.2:c.120C>G, NM_000951.2:c.120C>T, NM_001316335.2:c.51C>G, NM_001316335.2:c.51C>T, NM_001316335.1:c.51C>G, NM_001316335.1:c.51C>T, XM_006723286.2:c.120C>G, XM_006723286.2:c.120C>T, XM_006723286.1:c.120C>G, XM_006723286.1:c.120C>T, XM_011527124.2:c.51C>G, XM_011527124.2:c.51C>T, XM_011527124.1:c.51C>G, XM_011527124.1:c.51C>T, NP_000942.1:p.Phe40Leu, NP_001303264.1:p.Phe17Leu, XP_006723349.1:p.Phe40Leu, XP_011525426.1:p.Phe17Leu

Select item 142106263818.

rs1421062638 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:49583684 (GRCh38)
19:50086941 (GRCh37)
Canonical SPDI:: NC_000019.10:49583683:G:C
Gene:: PRRG2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49583684G>C, NC_000019.9:g.50086941G>C, NM_000951.3:c.228G>C, NM_000951.2:c.228G>C, NM_001316335.2:c.159G>C, NM_001316335.1:c.159G>C, XM_006723286.2:c.228G>C, XM_006723286.1:c.228G>C, XM_011527124.2:c.159G>C, XM_011527124.1:c.159G>C, NP_000942.1:p.Glu76Asp, NP_001303264.1:p.Glu53Asp, XP_006723349.1:p.Glu76Asp, XP_011525426.1:p.Glu53Asp

Select item 141926195819.

rs1419261958 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:49588566 (GRCh38)
19:50091823 (GRCh37)
Canonical SPDI:: NC_000019.10:49588565:C:A,NC_000019.10:49588565:C:T
Gene:: PRRG2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.49588566C>A, NC_000019.10:g.49588566C>T, NC_000019.9:g.50091823C>A, NC_000019.9:g.50091823C>T, NG_051202.1:g.2390C>A, NG_051202.1:g.2390C>T, NM_000951.3:c.371C>A, NM_000951.3:c.371C>T, NM_000951.2:c.371C>A, NM_000951.2:c.371C>T, NM_001316335.2:c.302C>A, NM_001316335.2:c.302C>T, NM_001316335.1:c.302C>A, NM_001316335.1:c.302C>T, XM_006723286.2:c.371C>A, XM_006723286.2:c.371C>T, XM_006723286.1:c.371C>A, XM_006723286.1:c.371C>T, XM_011527124.2:c.302C>A, XM_011527124.2:c.302C>T, XM_011527124.1:c.302C>A, XM_011527124.1:c.302C>T, NP_000942.1:p.Ala124Asp, NP_000942.1:p.Ala124Val, NP_001303264.1:p.Ala101Asp, NP_001303264.1:p.Ala101Val, XP_006723349.1:p.Ala124Asp, XP_006723349.1:p.Ala124Val, XP_011525426.1:p.Ala101Asp, XP_011525426.1:p.Ala101Val

Select item 141683441820.

rs1416834418 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:49590009 (GRCh38)
19:50093266 (GRCh37)
Canonical SPDI:: NC_000019.10:49590008:G:A,NC_000019.10:49590008:G:C
Gene:: PRRG2 (Varview), PRR12 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000094/1 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49590009G>A, NC_000019.10:g.49590009G>C, NC_000019.9:g.50093266G>A, NC_000019.9:g.50093266G>C, NG_051202.1:g.3833G>A, NG_051202.1:g.3833G>C, NM_000951.3:c.547G>A, NM_000951.3:c.547G>C, NM_000951.2:c.547G>A, NM_000951.2:c.547G>C, NM_001316335.2:c.478G>A, NM_001316335.2:c.478G>C, NM_001316335.1:c.478G>A, NM_001316335.1:c.478G>C, XM_006723286.2:c.547G>A, XM_006723286.2:c.547G>C, XM_006723286.1:c.547G>A, XM_006723286.1:c.547G>C, XM_011527124.2:c.478G>A, XM_011527124.2:c.478G>C, XM_011527124.1:c.478G>A, XM_011527124.1:c.478G>C, NP_000942.1:p.Ala183Thr, NP_000942.1:p.Ala183Pro, NP_001303264.1:p.Ala160Thr, NP_001303264.1:p.Ala160Pro, XP_006723349.1:p.Ala183Thr, XP_006723349.1:p.Ala183Pro, XP_011525426.1:p.Ala160Thr, XP_011525426.1:p.Ala160Pro

dbSNP

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