SNP Links for Protein (Select 767961981) - SNP - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Protein

Items: 1 to 20 of 244

<< First< Prev

Page of 13

Select item 14847900971.

rs1484790097 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:120575258 (GRCh38)
10:122334770 (GRCh37)
Canonical SPDI:: NC_000010.11:120575257:G:A
Gene:: PLPP4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.120575258G>A, NC_000010.10:g.122334770G>A, XM_006717686.5:c.573G>A, XM_006717686.4:c.573G>A, XM_006717686.3:c.573G>A, XM_006717686.2:c.573G>A, XM_006717686.1:c.573G>A, XM_011539444.4:c.567G>A, XM_011539444.3:c.567G>A, XM_011539444.2:c.567G>A, XM_011539444.1:c.567G>A, NM_001030059.3:c.573G>A, NM_001030059.2:c.573G>A, NM_001030059.1:c.573G>A, XM_017015821.3:c.210G>A, XM_017015821.2:c.210G>A, XM_017015821.1:c.210G>A, NM_001318166.2:c.448G>A, NM_001318166.1:c.448G>A, NM_001318167.2:c.384G>A, NM_001318167.1:c.384G>A, XM_017015822.2:c.210G>A, XM_017015822.1:c.210G>A, NM_001318168.2:c.*2G>A, NM_001318168.1:c.*2G>A, XM_024447862.2:c.210G>A, XM_024447862.1:c.210G>A, XM_017015823.2:c.*2G>A, XM_017015823.1:c.*2G>A, XM_047424709.1:c.534G>A, XM_047424710.1:c.210G>A, NR_134516.1:n.437G>A, XP_006717749.1:p.Met191Ile, XP_011537746.1:p.Met189Ile, NP_001025230.1:p.Met191Ile, XP_016871310.1:p.Met70Ile, NP_001305095.1:p.Asp150Asn, NP_001305096.1:p.Met128Ile, XP_016871311.1:p.Met70Ile, XP_024303630.1:p.Met70Ile, XP_047280665.1:p.Met178Ile, XP_047280666.1:p.Met70Ile

Select item 14821047512.

rs1482104751 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:120575164 (GRCh38)
10:122334676 (GRCh37)
Canonical SPDI:: NC_000010.11:120575163:A:G
Gene:: PLPP4 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,missense_variant,non_coding_transcript_variant,coding_sequence_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_000010.11:g.120575164A>G, NC_000010.10:g.122334676A>G, XM_006717686.5:c.479A>G, XM_006717686.4:c.479A>G, XM_006717686.3:c.479A>G, XM_006717686.2:c.479A>G, XM_006717686.1:c.479A>G, XM_011539444.4:c.473A>G, XM_011539444.3:c.473A>G, XM_011539444.2:c.473A>G, XM_011539444.1:c.473A>G, NM_001030059.3:c.479A>G, NM_001030059.2:c.479A>G, NM_001030059.1:c.479A>G, XM_017015821.3:c.116A>G, XM_017015821.2:c.116A>G, XM_017015821.1:c.116A>G, NM_001318166.2:c.354A>G, NM_001318166.1:c.354A>G, NM_001318167.2:c.290A>G, NM_001318167.1:c.290A>G, XM_017015822.2:c.116A>G, XM_017015822.1:c.116A>G, NM_001318168.2:c.199A>G, NM_001318168.1:c.199A>G, XM_024447862.2:c.116A>G, XM_024447862.1:c.116A>G, XM_017015823.2:c.199A>G, XM_017015823.1:c.199A>G, XM_047424709.1:c.440A>G, XM_047424710.1:c.116A>G, NR_134516.1:n.343A>G, XP_006717749.1:p.Tyr160Cys, XP_011537746.1:p.Tyr158Cys, NP_001025230.1:p.Tyr160Cys, XP_016871310.1:p.Tyr39Cys, NP_001305096.1:p.Tyr97Cys, XP_016871311.1:p.Tyr39Cys, NP_001305097.1:p.Thr67Ala, XP_024303630.1:p.Tyr39Cys, XP_016871312.1:p.Thr67Ala, XP_047280665.1:p.Tyr147Cys, XP_047280666.1:p.Tyr39Cys

Select item 14777762533.

rs1477776253 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:120521079 (GRCh38)
10:122280591 (GRCh37)
Canonical SPDI:: NC_000010.11:120521078:C:T
Gene:: PLPP4 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.120521079C>T, NC_000010.10:g.122280591C>T, XM_006717686.5:c.429C>T, XM_006717686.4:c.429C>T, XM_006717686.3:c.429C>T, XM_006717686.2:c.429C>T, XM_006717686.1:c.429C>T, XM_011539444.4:c.423C>T, XM_011539444.3:c.423C>T, XM_011539444.2:c.423C>T, XM_011539444.1:c.423C>T, NM_001030059.3:c.429C>T, NM_001030059.2:c.429C>T, NM_001030059.1:c.429C>T, XM_017015821.3:c.66C>T, XM_017015821.2:c.66C>T, XM_017015821.1:c.66C>T, XM_005269592.3:c.429C>T, XM_005269592.2:c.429C>T, XM_005269592.1:c.429C>T, XM_017015822.2:c.66C>T, XM_017015822.1:c.66C>T, XM_024447862.2:c.66C>T, XM_024447862.1:c.66C>T, XM_047424709.1:c.390C>T, XM_047424710.1:c.66C>T

Select item 14777172914.

rs1477717291 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:120518839 (GRCh38)
10:122278351 (GRCh37)
Canonical SPDI:: NC_000010.11:120518838:C:G,NC_000010.11:120518838:C:T
Gene:: PLPP4 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.120518839C>G, NC_000010.11:g.120518839C>T, NC_000010.10:g.122278351C>G, NC_000010.10:g.122278351C>T, XM_006717686.5:c.263C>G, XM_006717686.5:c.263C>T, XM_006717686.4:c.263C>G, XM_006717686.4:c.263C>T, XM_006717686.3:c.263C>G, XM_006717686.3:c.263C>T, XM_006717686.2:c.263C>G, XM_006717686.2:c.263C>T, XM_006717686.1:c.263C>G, XM_006717686.1:c.263C>T, XM_011539444.4:c.257C>G, XM_011539444.4:c.257C>T, XM_011539444.3:c.257C>G, XM_011539444.3:c.257C>T, XM_011539444.2:c.257C>G, XM_011539444.2:c.257C>T, XM_011539444.1:c.257C>G, XM_011539444.1:c.257C>T, NM_001030059.3:c.263C>G, NM_001030059.3:c.263C>T, NM_001030059.2:c.263C>G, NM_001030059.2:c.263C>T, NM_001030059.1:c.263C>G, NM_001030059.1:c.263C>T, XM_017015821.3:c.-193C>G, XM_017015821.3:c.-193C>T, XM_005269592.3:c.263C>G, XM_005269592.3:c.263C>T, XM_005269592.2:c.263C>G, XM_005269592.2:c.263C>T, XM_005269592.1:c.263C>G, XM_005269592.1:c.263C>T, NM_001318166.2:c.263C>G, NM_001318166.2:c.263C>T, NM_001318166.1:c.263C>G, NM_001318166.1:c.263C>T, XM_017015822.2:c.-158C>G, XM_017015822.2:c.-158C>T, XM_024447862.2:c.-66C>G, XM_024447862.2:c.-66C>T, XM_024447862.1:c.-66C>G, XM_024447862.1:c.-66C>T, XM_047424709.1:c.224C>G, XM_047424709.1:c.224C>T, XM_047424710.1:c.-101C>G, XM_047424710.1:c.-101C>T, XP_006717749.1:p.Ser88Cys, XP_006717749.1:p.Ser88Phe, XP_011537746.1:p.Ser86Cys, XP_011537746.1:p.Ser86Phe, NP_001025230.1:p.Ser88Cys, NP_001025230.1:p.Ser88Phe, XP_005269649.1:p.Ser88Cys, XP_005269649.1:p.Ser88Phe, NP_001305095.1:p.Ser88Cys, NP_001305095.1:p.Ser88Phe, XP_047280665.1:p.Ser75Cys, XP_047280665.1:p.Ser75Phe

Select item 14600187795.

rs1460018779 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:120575140 (GRCh38)
10:122334652 (GRCh37)
Canonical SPDI:: NC_000010.11:120575139:C:A,NC_000010.11:120575139:C:T
Gene:: PLPP4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,stop_gained,non_coding_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00003/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000029/4 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000010.11:g.120575140C>A, NC_000010.11:g.120575140C>T, NC_000010.10:g.122334652C>A, NC_000010.10:g.122334652C>T, XM_006717686.5:c.455C>A, XM_006717686.5:c.455C>T, XM_006717686.4:c.455C>A, XM_006717686.4:c.455C>T, XM_006717686.3:c.455C>A, XM_006717686.3:c.455C>T, XM_006717686.2:c.455C>A, XM_006717686.2:c.455C>T, XM_006717686.1:c.455C>A, XM_006717686.1:c.455C>T, XM_011539444.4:c.449C>A, XM_011539444.4:c.449C>T, XM_011539444.3:c.449C>A, XM_011539444.3:c.449C>T, XM_011539444.2:c.449C>A, XM_011539444.2:c.449C>T, XM_011539444.1:c.449C>A, XM_011539444.1:c.449C>T, NM_001030059.3:c.455C>A, NM_001030059.3:c.455C>T, NM_001030059.2:c.455C>A, NM_001030059.2:c.455C>T, NM_001030059.1:c.455C>A, NM_001030059.1:c.455C>T, XM_017015821.3:c.92C>A, XM_017015821.3:c.92C>T, XM_017015821.2:c.92C>A, XM_017015821.2:c.92C>T, XM_017015821.1:c.92C>A, XM_017015821.1:c.92C>T, NM_001318166.2:c.330C>A, NM_001318166.2:c.330C>T, NM_001318166.1:c.330C>A, NM_001318166.1:c.330C>T, NM_001318167.2:c.266C>A, NM_001318167.2:c.266C>T, NM_001318167.1:c.266C>A, NM_001318167.1:c.266C>T, XM_017015822.2:c.92C>A, XM_017015822.2:c.92C>T, XM_017015822.1:c.92C>A, XM_017015822.1:c.92C>T, NM_001318168.2:c.175C>A, NM_001318168.2:c.175C>T, NM_001318168.1:c.175C>A, NM_001318168.1:c.175C>T, XM_024447862.2:c.92C>A, XM_024447862.2:c.92C>T, XM_024447862.1:c.92C>A, XM_024447862.1:c.92C>T, XM_017015823.2:c.175C>A, XM_017015823.2:c.175C>T, XM_017015823.1:c.175C>A, XM_017015823.1:c.175C>T, XM_047424709.1:c.416C>A, XM_047424709.1:c.416C>T, XM_047424710.1:c.92C>A, XM_047424710.1:c.92C>T, NR_134516.1:n.319C>A, NR_134516.1:n.319C>T, XP_006717749.1:p.Ser152Ter, XP_006717749.1:p.Ser152Leu, XP_011537746.1:p.Ser150Ter, XP_011537746.1:p.Ser150Leu, NP_001025230.1:p.Ser152Ter, NP_001025230.1:p.Ser152Leu, XP_016871310.1:p.Ser31Ter, XP_016871310.1:p.Ser31Leu, NP_001305095.1:p.Phe110Leu, NP_001305096.1:p.Ser89Ter, NP_001305096.1:p.Ser89Leu, XP_016871311.1:p.Ser31Ter, XP_016871311.1:p.Ser31Leu, NP_001305097.1:p.Arg59Trp, XP_024303630.1:p.Ser31Ter, XP_024303630.1:p.Ser31Leu, XP_016871312.1:p.Arg59Trp, XP_047280665.1:p.Ser139Ter, XP_047280665.1:p.Ser139Leu, XP_047280666.1:p.Ser31Ter, XP_047280666.1:p.Ser31Leu

Select item 14530333416.

rs1453033341 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 10:120521007 (GRCh38)
10:122280520 (GRCh37)
Canonical SPDI:: NC_000010.11:120521007:GG:GGG
Gene:: PLPP4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,frameshift_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.120521009dup, NC_000010.10:g.122280521dup, XM_006717686.5:c.359dup, XM_006717686.4:c.359dup, XM_006717686.3:c.359dup, XM_006717686.2:c.359dup, XM_006717686.1:c.359dup, XM_011539444.4:c.353dup, XM_011539444.3:c.353dup, XM_011539444.2:c.353dup, XM_011539444.1:c.353dup, NM_001030059.3:c.359dup, NM_001030059.2:c.359dup, NM_001030059.1:c.359dup, XM_017015821.3:c.-5dup, XM_017015821.2:c.-5dup, XM_017015821.1:c.-5dup, XM_005269592.3:c.359dup, XM_005269592.2:c.359dup, XM_005269592.1:c.359dup, XM_017015822.2:c.-5dup, XM_017015822.1:c.-5dup, XM_024447862.2:c.-5dup, XM_024447862.1:c.-5dup, XM_047424709.1:c.320dup, XM_047424710.1:c.-5dup, XP_006717749.1:p.Val121fs, XP_011537746.1:p.Val119fs, NP_001025230.1:p.Val121fs, XP_005269649.1:p.Val121fs, XP_047280665.1:p.Val108fs

Select item 14227018407.

rs1422701840 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 10:120503848 (GRCh38)
10:122263360 (GRCh37)
Canonical SPDI:: NC_000010.11:120503843:AGAGAG:AGAG
Gene:: PLPP4 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
-=0.009863/112 (GoESP)
HGVS:: NC_000010.11:g.120503844AG[2], NC_000010.10:g.122263356AG[2], XM_006717686.5:c.87_88del, XM_006717686.4:c.87_88del, XM_006717686.3:c.87_88del, XM_006717686.2:c.87_88del, XM_006717686.1:c.87_88del, XM_011539444.4:c.81_82del, XM_011539444.3:c.81_82del, XM_011539444.2:c.81_82del, XM_011539444.1:c.81_82del, NM_001030059.3:c.87_88del, NM_001030059.2:c.87_88del, NM_001030059.1:c.87_88del, XM_005269592.3:c.87_88del, XM_005269592.2:c.87_88del, XM_005269592.1:c.87_88del, NM_001318166.2:c.87_88del, NM_001318166.1:c.87_88del, NM_001318167.2:c.87_88del, NM_001318167.1:c.87_88del, XM_017015822.2:c.-247AG[2], NM_001318168.2:c.87_88del, NM_001318168.1:c.87_88del, NM_001318169.2:c.87_88del, NM_001318169.1:c.87_88del, XM_017015823.2:c.87_88del, XM_017015823.1:c.87_88del, XM_047424709.1:c.48_49del, NR_134516.1:n.227AG[2], XP_006717749.1:p.Arg29fs, XP_011537746.1:p.Arg27fs, NP_001025230.1:p.Arg29fs, XP_005269649.1:p.Arg29fs, NP_001305095.1:p.Arg29fs, NP_001305096.1:p.Arg29fs, NP_001305097.1:p.Arg29fs, NP_001305098.1:p.Arg29fs, XP_016871312.1:p.Arg29fs, XP_047280665.1:p.Arg16fs

Select item 14215094058.

rs1421509405 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:120575222 (GRCh38)
10:122334734 (GRCh37)
Canonical SPDI:: NC_000010.11:120575221:C:T
Gene:: PLPP4 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,non_coding_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000010.11:g.120575222C>T, NC_000010.10:g.122334734C>T, XM_006717686.5:c.537C>T, XM_006717686.4:c.537C>T, XM_006717686.3:c.537C>T, XM_006717686.2:c.537C>T, XM_006717686.1:c.537C>T, XM_011539444.4:c.531C>T, XM_011539444.3:c.531C>T, XM_011539444.2:c.531C>T, XM_011539444.1:c.531C>T, NM_001030059.3:c.537C>T, NM_001030059.2:c.537C>T, NM_001030059.1:c.537C>T, XM_017015821.3:c.174C>T, XM_017015821.2:c.174C>T, XM_017015821.1:c.174C>T, NM_001318166.2:c.412C>T, NM_001318166.1:c.412C>T, NM_001318167.2:c.348C>T, NM_001318167.1:c.348C>T, XM_017015822.2:c.174C>T, XM_017015822.1:c.174C>T, NM_001318168.2:c.257C>T, NM_001318168.1:c.257C>T, XM_024447862.2:c.174C>T, XM_024447862.1:c.174C>T, XM_017015823.2:c.257C>T, XM_017015823.1:c.257C>T, XM_047424709.1:c.498C>T, XM_047424710.1:c.174C>T, NR_134516.1:n.401C>T, NP_001305097.1:p.Ser86Phe, XP_016871312.1:p.Ser86Phe

Select item 14147622019.

rs1414762201 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:120575155 (GRCh38)
10:122334667 (GRCh37)
Canonical SPDI:: NC_000010.11:120575154:C:T
Gene:: PLPP4 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,intron_variant,stop_gained,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.120575155C>T, NC_000010.10:g.122334667C>T, XM_006717686.5:c.470C>T, XM_006717686.4:c.470C>T, XM_006717686.3:c.470C>T, XM_006717686.2:c.470C>T, XM_006717686.1:c.470C>T, XM_011539444.4:c.464C>T, XM_011539444.3:c.464C>T, XM_011539444.2:c.464C>T, XM_011539444.1:c.464C>T, NM_001030059.3:c.470C>T, NM_001030059.2:c.470C>T, NM_001030059.1:c.470C>T, XM_017015821.3:c.107C>T, XM_017015821.2:c.107C>T, XM_017015821.1:c.107C>T, NM_001318166.2:c.345C>T, NM_001318166.1:c.345C>T, NM_001318167.2:c.281C>T, NM_001318167.1:c.281C>T, XM_017015822.2:c.107C>T, XM_017015822.1:c.107C>T, NM_001318168.2:c.190C>T, NM_001318168.1:c.190C>T, XM_024447862.2:c.107C>T, XM_024447862.1:c.107C>T, XM_017015823.2:c.190C>T, XM_017015823.1:c.190C>T, XM_047424709.1:c.431C>T, XM_047424710.1:c.107C>T, NR_134516.1:n.334C>T, XP_006717749.1:p.Thr157Met, XP_011537746.1:p.Thr155Met, NP_001025230.1:p.Thr157Met, XP_016871310.1:p.Thr36Met, NP_001305096.1:p.Thr94Met, XP_016871311.1:p.Thr36Met, NP_001305097.1:p.Arg64Ter, XP_024303630.1:p.Thr36Met, XP_016871312.1:p.Arg64Ter, XP_047280665.1:p.Thr144Met, XP_047280666.1:p.Thr36Met

Select item 140386440510.

rs1403864405 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:120513960 (GRCh38)
10:122273472 (GRCh37)
Canonical SPDI:: NC_000010.11:120513959:T:C
Gene:: PLPP4 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000010.11:g.120513960T>C, NC_000010.10:g.122273472T>C, XM_006717686.5:c.215T>C, XM_006717686.4:c.215T>C, XM_006717686.3:c.215T>C, XM_006717686.2:c.215T>C, XM_006717686.1:c.215T>C, XM_011539444.4:c.209T>C, XM_011539444.3:c.209T>C, XM_011539444.2:c.209T>C, XM_011539444.1:c.209T>C, NM_001030059.3:c.215T>C, NM_001030059.2:c.215T>C, NM_001030059.1:c.215T>C, XM_005269592.3:c.215T>C, XM_005269592.2:c.215T>C, XM_005269592.1:c.215T>C, NM_001318166.2:c.215T>C, NM_001318166.1:c.215T>C, NM_001318167.2:c.215T>C, NM_001318167.1:c.215T>C, XM_047424709.1:c.176T>C, XP_006717749.1:p.Ile72Thr, XP_011537746.1:p.Ile70Thr, NP_001025230.1:p.Ile72Thr, XP_005269649.1:p.Ile72Thr, NP_001305095.1:p.Ile72Thr, NP_001305096.1:p.Ile72Thr, XP_047280665.1:p.Ile59Thr

Select item 140299994011.

rs1402999940 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:120513922 (GRCh38)
10:122273434 (GRCh37)
Canonical SPDI:: NC_000010.11:120513921:C:G
Gene:: PLPP4 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000019/5 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000010.11:g.120513922C>G, NC_000010.10:g.122273434C>G, XM_006717686.5:c.177C>G, XM_006717686.4:c.177C>G, XM_006717686.3:c.177C>G, XM_006717686.2:c.177C>G, XM_006717686.1:c.177C>G, XM_011539444.4:c.171C>G, XM_011539444.3:c.171C>G, XM_011539444.2:c.171C>G, XM_011539444.1:c.171C>G, NM_001030059.3:c.177C>G, NM_001030059.2:c.177C>G, NM_001030059.1:c.177C>G, XM_005269592.3:c.177C>G, XM_005269592.2:c.177C>G, XM_005269592.1:c.177C>G, NM_001318166.2:c.177C>G, NM_001318166.1:c.177C>G, NM_001318167.2:c.177C>G, NM_001318167.1:c.177C>G, XM_047424709.1:c.138C>G, XP_006717749.1:p.Phe59Leu, XP_011537746.1:p.Phe57Leu, NP_001025230.1:p.Phe59Leu, XP_005269649.1:p.Phe59Leu, NP_001305095.1:p.Phe59Leu, NP_001305096.1:p.Phe59Leu, XP_047280665.1:p.Phe46Leu

Select item 140258218512.

rs1402582185 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:120589341 (GRCh38)
10:122348853 (GRCh37)
Canonical SPDI:: NC_000010.11:120589340:T:C
Gene:: PLPP4 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.120589341T>C, NC_000010.10:g.122348853T>C, XM_011539444.4:c.649T>C, XM_011539444.3:c.649T>C, XM_011539444.2:c.649T>C, XM_011539444.1:c.649T>C, NM_001030059.3:c.655T>C, NM_001030059.2:c.655T>C, NM_001030059.1:c.655T>C, XM_017015821.3:c.292T>C, XM_017015821.2:c.292T>C, XM_017015821.1:c.292T>C, XM_005269592.3:c.484T>C, XM_005269592.2:c.484T>C, XM_005269592.1:c.484T>C, NM_001318166.2:c.530T>C, NM_001318166.1:c.530T>C, NM_001318167.2:c.466T>C, NM_001318167.1:c.466T>C, XM_017015822.2:c.292T>C, XM_017015822.1:c.292T>C, NM_001318168.2:c.*84T>C, NM_001318168.1:c.*84T>C, XM_024447862.2:c.292T>C, XM_024447862.1:c.292T>C, NM_001318169.2:c.204T>C, NM_001318169.1:c.204T>C, XM_047424709.1:c.616T>C, XM_047424710.1:c.292T>C, NR_134516.1:n.519T>C, XP_011537746.1:p.Tyr217His, NP_001025230.1:p.Tyr219His, XP_016871310.1:p.Tyr98His, XP_005269649.1:p.Tyr162His, NP_001305095.1:p.Ile177Thr, NP_001305096.1:p.Tyr156His, XP_016871311.1:p.Tyr98His, XP_024303630.1:p.Tyr98His, XP_047280665.1:p.Tyr206His, XP_047280666.1:p.Tyr98His

Select item 140160556013.

rs1401605560 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 10:120489150 (GRCh38)
10:122248663 (GRCh37)
Canonical SPDI:: NC_000010.11:120489150:A:AA
Gene:: PLPP4 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.120489151dup, NC_000010.10:g.122248663dup, XM_011539444.4:c.50dup, XM_011539444.3:c.50dup, XM_011539444.2:c.50dup, XM_011539444.1:c.50dup, XM_047424709.1:c.-43dup, XP_011537746.1:p.His17fs

Select item 139434748214.

rs1394347482 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:120575199 (GRCh38)
10:122334711 (GRCh37)
Canonical SPDI:: NC_000010.11:120575198:G:A
Gene:: PLPP4 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,missense_variant,stop_gained,coding_sequence_variant,intron_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_000010.11:g.120575199G>A, NC_000010.10:g.122334711G>A, XM_006717686.5:c.514G>A, XM_006717686.4:c.514G>A, XM_006717686.3:c.514G>A, XM_006717686.2:c.514G>A, XM_006717686.1:c.514G>A, XM_011539444.4:c.508G>A, XM_011539444.3:c.508G>A, XM_011539444.2:c.508G>A, XM_011539444.1:c.508G>A, NM_001030059.3:c.514G>A, NM_001030059.2:c.514G>A, NM_001030059.1:c.514G>A, XM_017015821.3:c.151G>A, XM_017015821.2:c.151G>A, XM_017015821.1:c.151G>A, NM_001318166.2:c.389G>A, NM_001318166.1:c.389G>A, NM_001318167.2:c.325G>A, NM_001318167.1:c.325G>A, XM_017015822.2:c.151G>A, XM_017015822.1:c.151G>A, NM_001318168.2:c.234G>A, NM_001318168.1:c.234G>A, XM_024447862.2:c.151G>A, XM_024447862.1:c.151G>A, XM_017015823.2:c.234G>A, XM_017015823.1:c.234G>A, XM_047424709.1:c.475G>A, XM_047424710.1:c.151G>A, NR_134516.1:n.378G>A, XP_006717749.1:p.Gly172Arg, XP_011537746.1:p.Gly170Arg, NP_001025230.1:p.Gly172Arg, XP_016871310.1:p.Gly51Arg, NP_001305095.1:p.Trp130Ter, NP_001305096.1:p.Gly109Arg, XP_016871311.1:p.Gly51Arg, XP_024303630.1:p.Gly51Arg, XP_047280665.1:p.Gly159Arg, XP_047280666.1:p.Gly51Arg

Select item 138156922815.

rs1381569228 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:120589441 (GRCh38)
10:122348953 (GRCh37)
Canonical SPDI:: NC_000010.11:120589440:G:A
Gene:: PLPP4 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant
HGVS:: NC_000010.11:g.120589441G>A, NC_000010.10:g.122348953G>A, XM_011539444.4:c.749G>A, XM_011539444.3:c.749G>A, XM_011539444.2:c.749G>A, XM_011539444.1:c.749G>A, NM_001030059.3:c.755G>A, NM_001030059.2:c.755G>A, NM_001030059.1:c.755G>A, XM_017015821.3:c.392G>A, XM_017015821.2:c.392G>A, XM_017015821.1:c.392G>A, XM_005269592.3:c.584G>A, XM_005269592.2:c.584G>A, XM_005269592.1:c.584G>A, NM_001318166.2:c.*48G>A, NM_001318166.1:c.*48G>A, NM_001318167.2:c.566G>A, NM_001318167.1:c.566G>A, XM_017015822.2:c.392G>A, XM_017015822.1:c.392G>A, NM_001318168.2:c.*184G>A, NM_001318168.1:c.*184G>A, XM_024447862.2:c.392G>A, XM_024447862.1:c.392G>A, NM_001318169.2:c.*13G>A, NM_001318169.1:c.*13G>A, XM_047424709.1:c.716G>A, XM_047424710.1:c.392G>A, NR_134516.1:n.619G>A, XP_011537746.1:p.Arg250Lys, NP_001025230.1:p.Arg252Lys, XP_016871310.1:p.Arg131Lys, XP_005269649.1:p.Arg195Lys, NP_001305096.1:p.Arg189Lys, XP_016871311.1:p.Arg131Lys, XP_024303630.1:p.Arg131Lys, XP_047280665.1:p.Arg239Lys, XP_047280666.1:p.Arg131Lys

Select item 137840085816.

rs1378400858 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:120520990 (GRCh38)
10:122280502 (GRCh37)
Canonical SPDI:: NC_000010.11:120520989:T:C
Gene:: PLPP4 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.120520990T>C, NC_000010.10:g.122280502T>C, XM_006717686.5:c.340T>C, XM_006717686.4:c.340T>C, XM_006717686.3:c.340T>C, XM_006717686.2:c.340T>C, XM_006717686.1:c.340T>C, XM_011539444.4:c.334T>C, XM_011539444.3:c.334T>C, XM_011539444.2:c.334T>C, XM_011539444.1:c.334T>C, NM_001030059.3:c.340T>C, NM_001030059.2:c.340T>C, NM_001030059.1:c.340T>C, XM_017015821.3:c.-24T>C, XM_017015821.2:c.-24T>C, XM_017015821.1:c.-24T>C, XM_005269592.3:c.340T>C, XM_005269592.2:c.340T>C, XM_005269592.1:c.340T>C, XM_047424709.1:c.301T>C, XM_047424710.1:c.-24T>C, XP_006717749.1:p.Tyr114His, XP_011537746.1:p.Tyr112His, NP_001025230.1:p.Tyr114His, XP_005269649.1:p.Tyr114His, XP_047280665.1:p.Tyr101His

Select item 137330841817.

rs1373308418 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:120503866 (GRCh38)
10:122263378 (GRCh37)
Canonical SPDI:: NC_000010.11:120503865:G:A
Gene:: PLPP4 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.120503866G>A, NC_000010.10:g.122263378G>A, XM_006717686.5:c.105G>A, XM_006717686.4:c.105G>A, XM_006717686.3:c.105G>A, XM_006717686.2:c.105G>A, XM_006717686.1:c.105G>A, XM_011539444.4:c.99G>A, XM_011539444.3:c.99G>A, XM_011539444.2:c.99G>A, XM_011539444.1:c.99G>A, NM_001030059.3:c.105G>A, NM_001030059.2:c.105G>A, NM_001030059.1:c.105G>A, XM_017015821.3:c.-260G>A, XM_005269592.3:c.105G>A, XM_005269592.2:c.105G>A, XM_005269592.1:c.105G>A, NM_001318166.2:c.105G>A, NM_001318166.1:c.105G>A, NM_001318167.2:c.105G>A, NM_001318167.1:c.105G>A, XM_017015822.2:c.-225G>A, NM_001318168.2:c.105G>A, NM_001318168.1:c.105G>A, NM_001318169.2:c.105G>A, NM_001318169.1:c.105G>A, XM_017015823.2:c.105G>A, XM_017015823.1:c.105G>A, XM_047424709.1:c.66G>A, XM_047424710.1:c.-168G>A, NR_134516.1:n.249G>A

Select item 136939359618.

rs1369393596 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:120589373 (GRCh38)
10:122348885 (GRCh37)
Canonical SPDI:: NC_000010.11:120589372:G:C
Gene:: PLPP4 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.120589373G>C, NC_000010.10:g.122348885G>C, XM_011539444.4:c.681G>C, XM_011539444.3:c.681G>C, XM_011539444.2:c.681G>C, XM_011539444.1:c.681G>C, NM_001030059.3:c.687G>C, NM_001030059.2:c.687G>C, NM_001030059.1:c.687G>C, XM_017015821.3:c.324G>C, XM_017015821.2:c.324G>C, XM_017015821.1:c.324G>C, XM_005269592.3:c.516G>C, XM_005269592.2:c.516G>C, XM_005269592.1:c.516G>C, NM_001318166.2:c.562G>C, NM_001318166.1:c.562G>C, NM_001318167.2:c.498G>C, NM_001318167.1:c.498G>C, XM_017015822.2:c.324G>C, XM_017015822.1:c.324G>C, NM_001318168.2:c.*116G>C, NM_001318168.1:c.*116G>C, XM_024447862.2:c.324G>C, XM_024447862.1:c.324G>C, NM_001318169.2:c.236G>C, NM_001318169.1:c.236G>C, XM_047424709.1:c.648G>C, XM_047424710.1:c.324G>C, NR_134516.1:n.551G>C, NP_001305095.1:p.Gly188Arg, NP_001305098.1:p.Trp79Ser

Select item 136834312619.

rs1368343126 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:120521032 (GRCh38)
10:122280544 (GRCh37)
Canonical SPDI:: NC_000010.11:120521031:T:C
Gene:: PLPP4 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.120521032T>C, NC_000010.10:g.122280544T>C, XM_006717686.5:c.382T>C, XM_006717686.4:c.382T>C, XM_006717686.3:c.382T>C, XM_006717686.2:c.382T>C, XM_006717686.1:c.382T>C, XM_011539444.4:c.376T>C, XM_011539444.3:c.376T>C, XM_011539444.2:c.376T>C, XM_011539444.1:c.376T>C, NM_001030059.3:c.382T>C, NM_001030059.2:c.382T>C, NM_001030059.1:c.382T>C, XM_017015821.3:c.19T>C, XM_017015821.2:c.19T>C, XM_017015821.1:c.19T>C, XM_005269592.3:c.382T>C, XM_005269592.2:c.382T>C, XM_005269592.1:c.382T>C, XM_017015822.2:c.19T>C, XM_017015822.1:c.19T>C, XM_024447862.2:c.19T>C, XM_024447862.1:c.19T>C, XM_047424709.1:c.343T>C, XM_047424710.1:c.19T>C, XP_006717749.1:p.Cys128Arg, XP_011537746.1:p.Cys126Arg, NP_001025230.1:p.Cys128Arg, XP_016871310.1:p.Cys7Arg, XP_005269649.1:p.Cys128Arg, XP_016871311.1:p.Cys7Arg, XP_024303630.1:p.Cys7Arg, XP_047280665.1:p.Cys115Arg, XP_047280666.1:p.Cys7Arg

Select item 136527030820.

rs1365270308 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:120589351 (GRCh38)
10:122348863 (GRCh37)
Canonical SPDI:: NC_000010.11:120589350:A:G
Gene:: PLPP4 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,3_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000010.11:g.120589351A>G, NC_000010.10:g.122348863A>G, XM_011539444.4:c.659A>G, XM_011539444.3:c.659A>G, XM_011539444.2:c.659A>G, XM_011539444.1:c.659A>G, NM_001030059.3:c.665A>G, NM_001030059.2:c.665A>G, NM_001030059.1:c.665A>G, XM_017015821.3:c.302A>G, XM_017015821.2:c.302A>G, XM_017015821.1:c.302A>G, XM_005269592.3:c.494A>G, XM_005269592.2:c.494A>G, XM_005269592.1:c.494A>G, NM_001318166.2:c.540A>G, NM_001318166.1:c.540A>G, NM_001318167.2:c.476A>G, NM_001318167.1:c.476A>G, XM_017015822.2:c.302A>G, XM_017015822.1:c.302A>G, NM_001318168.2:c.*94A>G, NM_001318168.1:c.*94A>G, XM_024447862.2:c.302A>G, XM_024447862.1:c.302A>G, NM_001318169.2:c.214A>G, NM_001318169.1:c.214A>G, XM_047424709.1:c.626A>G, XM_047424710.1:c.302A>G, NR_134516.1:n.529A>G, XP_011537746.1:p.Tyr220Cys, NP_001025230.1:p.Tyr222Cys, XP_016871310.1:p.Tyr101Cys, XP_005269649.1:p.Tyr165Cys, NP_001305096.1:p.Tyr159Cys, XP_016871311.1:p.Tyr101Cys, XP_024303630.1:p.Tyr101Cys, NP_001305098.1:p.Thr72Ala, XP_047280665.1:p.Tyr209Cys, XP_047280666.1:p.Tyr101Cys

<< First< Prev

Page of 13

Supplemental Content

Filters: Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

SNP Links for Protein (Select 767961981) (244)
SNP

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...