SNP Links for Protein (Select 1130872527) - SNP

Links from Protein

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Select item 14909924841.

rs1490992484 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAGA [Show Flanks]
Chromosome:: 14:94251775 (GRCh38)
14:94718113 (GRCh37)
Canonical SPDI:: NC_000014.9:94251775:ATAGA:ATAGATAGA
Gene:: PPP4R4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: ATAGATAGA=0./0 (ALFA)
ATAG=0.000007/1 (GnomAD)
ATAG=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.94251777_94251780dup, NT_187601.1:g.1366339_1366342dup, NC_000014.8:g.94718114_94718117dup, XM_011537039.3:c.1425_1428dup, XM_011537039.2:c.1425_1428dup, XM_011537039.1:c.1425_1428dup, XM_017021528.3:c.1485_1488dup, XM_017021528.2:c.1485_1488dup, XM_017021528.1:c.1485_1488dup, XM_011537040.3:c.1425_1428dup, XM_011537040.2:c.1425_1428dup, XM_011537040.1:c.1425_1428dup, NM_001348143.2:c.1425_1428dup, NM_001348143.1:c.1425_1428dup, NM_001348144.2:c.1425_1428dup, NM_001348144.1:c.1425_1428dup, NR_145441.2:n.1890_1893dup, NR_145441.1:n.1900_1903dup, NM_001348142.2:c.1503_1506dup, NM_001348142.1:c.1503_1506dup, NM_058237.2:c.1746_1749dup, NM_058237.1:c.1746_1749dup, XM_024449672.2:c.1503_1506dup, XM_024449672.1:c.1503_1506dup, XM_024449673.2:c.1425_1428dup, XM_024449673.1:c.1425_1428dup, XP_011535341.1:p.Leu477Ter, XP_016877017.1:p.Leu497Ter, XP_011535342.1:p.Leu477Ter, NP_001335072.1:p.Leu477Ter, NP_001335073.1:p.Leu477Ter, NP_001335071.1:p.Leu503Ter, NP_478144.1:p.Leu584Ter, XP_024305440.1:p.Leu503Ter, XP_024305441.1:p.Leu477Ter

Select item 14908968032.

rs1490896803 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 14:94251876 (GRCh38)
14:94718213 (GRCh37)
Canonical SPDI:: NC_000014.9:94251875:T:G
Gene:: PPP4R4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.94251876T>G, NT_187601.1:g.1366438T>G, NC_000014.8:g.94718213T>G, XM_011537039.3:c.1524T>G, XM_011537039.2:c.1524T>G, XM_011537039.1:c.1524T>G, XM_017021528.3:c.1584T>G, XM_017021528.2:c.1584T>G, XM_017021528.1:c.1584T>G, XM_011537040.3:c.1524T>G, XM_011537040.2:c.1524T>G, XM_011537040.1:c.1524T>G, NM_001348143.2:c.1524T>G, NM_001348143.1:c.1524T>G, NM_001348144.2:c.1524T>G, NM_001348144.1:c.1524T>G, NR_145441.2:n.1989T>G, NR_145441.1:n.1999T>G, NM_001348142.2:c.1602T>G, NM_001348142.1:c.1602T>G, NM_058237.2:c.1845T>G, NM_058237.1:c.1845T>G, XM_024449672.2:c.1602T>G, XM_024449672.1:c.1602T>G, XM_024449673.2:c.1524T>G, XM_024449673.1:c.1524T>G, XP_011535341.1:p.His508Gln, XP_016877017.1:p.His528Gln, XP_011535342.1:p.His508Gln, NP_001335072.1:p.His508Gln, NP_001335073.1:p.His508Gln, NP_001335071.1:p.His534Gln, NP_478144.1:p.His615Gln, XP_024305440.1:p.His534Gln, XP_024305441.1:p.His508Gln

Select item 14903441093.

rs1490344109 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 14:94241933 (GRCh38)
14:94708270 (GRCh37)
Canonical SPDI:: NC_000014.9:94241932:G:A,NC_000014.9:94241932:G:C
Gene:: PPP4R4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.94241933G>A, NC_000014.9:g.94241933G>C, NT_187601.1:g.1356495G>A, NT_187601.1:g.1356495G>C, NC_000014.8:g.94708270G>A, NC_000014.8:g.94708270G>C, XM_011537039.3:c.801G>A, XM_011537039.3:c.801G>C, XM_011537039.2:c.801G>A, XM_011537039.2:c.801G>C, XM_011537039.1:c.801G>A, XM_011537039.1:c.801G>C, XM_017021528.3:c.861G>A, XM_017021528.3:c.861G>C, XM_017021528.2:c.861G>A, XM_017021528.2:c.861G>C, XM_017021528.1:c.861G>A, XM_017021528.1:c.861G>C, XM_011537040.3:c.801G>A, XM_011537040.3:c.801G>C, XM_011537040.2:c.801G>A, XM_011537040.2:c.801G>C, XM_011537040.1:c.801G>A, XM_011537040.1:c.801G>C, NM_001348143.2:c.801G>A, NM_001348143.2:c.801G>C, NM_001348143.1:c.801G>A, NM_001348143.1:c.801G>C, NM_001348144.2:c.801G>A, NM_001348144.2:c.801G>C, NM_001348144.1:c.801G>A, NM_001348144.1:c.801G>C, NR_145441.2:n.1266G>A, NR_145441.2:n.1266G>C, NR_145441.1:n.1276G>A, NR_145441.1:n.1276G>C, NM_001348142.2:c.879G>A, NM_001348142.2:c.879G>C, NM_001348142.1:c.879G>A, NM_001348142.1:c.879G>C, NM_058237.2:c.1122G>A, NM_058237.2:c.1122G>C, NM_058237.1:c.1122G>A, NM_058237.1:c.1122G>C, XM_024449672.2:c.879G>A, XM_024449672.2:c.879G>C, XM_024449672.1:c.879G>A, XM_024449672.1:c.879G>C, XM_024449673.2:c.801G>A, XM_024449673.2:c.801G>C, XM_024449673.1:c.801G>A, XM_024449673.1:c.801G>C

Select item 14877604384.

rs1487760438 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:94259358 (GRCh38)
14:94725695 (GRCh37)
Canonical SPDI:: NC_000014.9:94259357:C:T
Gene:: PPP4R4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.94259358C>T, NT_187601.1:g.1373920C>T, NC_000014.8:g.94725695C>T, XM_011537039.3:c.1795C>T, XM_011537039.2:c.1795C>T, XM_011537039.1:c.1795C>T, XM_017021528.3:c.1855C>T, XM_017021528.2:c.1855C>T, XM_017021528.1:c.1855C>T, XM_011537040.3:c.1795C>T, XM_011537040.2:c.1795C>T, XM_011537040.1:c.1795C>T, NM_001348143.2:c.1795C>T, NM_001348143.1:c.1795C>T, NM_001348144.2:c.1795C>T, NM_001348144.1:c.1795C>T, NR_145441.2:n.2286C>T, NR_145441.1:n.2296C>T, NM_001348142.2:c.1873C>T, NM_001348142.1:c.1873C>T, NM_058237.2:c.2116C>T, NM_058237.1:c.2116C>T, XM_024449672.2:c.1873C>T, XM_024449672.1:c.1873C>T, XM_024449673.2:c.1795C>T, XM_024449673.1:c.1795C>T, XP_011535341.1:p.Leu599Phe, XP_016877017.1:p.Leu619Phe, XP_011535342.1:p.Leu599Phe, NP_001335072.1:p.Leu599Phe, NP_001335073.1:p.Leu599Phe, NP_001335071.1:p.Leu625Phe, NP_478144.1:p.Leu706Phe, XP_024305440.1:p.Leu625Phe, XP_024305441.1:p.Leu599Phe

Select item 14874053475.

rs1487405347 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 14:94246454 (GRCh38)
14:94712791 (GRCh37)
Canonical SPDI:: NC_000014.9:94246453:A:C
Gene:: PPP4R4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.94246454A>C, NT_187601.1:g.1361016A>C, NC_000014.8:g.94712791A>C, XM_011537039.3:c.1205A>C, XM_011537039.2:c.1205A>C, XM_011537039.1:c.1205A>C, XM_017021528.3:c.1265A>C, XM_017021528.2:c.1265A>C, XM_017021528.1:c.1265A>C, XM_011537040.3:c.1205A>C, XM_011537040.2:c.1205A>C, XM_011537040.1:c.1205A>C, NM_001348143.2:c.1205A>C, NM_001348143.1:c.1205A>C, NM_001348144.2:c.1205A>C, NM_001348144.1:c.1205A>C, NR_145441.2:n.1670A>C, NR_145441.1:n.1680A>C, NM_001348142.2:c.1283A>C, NM_001348142.1:c.1283A>C, NM_058237.2:c.1526A>C, NM_058237.1:c.1526A>C, XM_024449672.2:c.1283A>C, XM_024449672.1:c.1283A>C, XM_024449673.2:c.1205A>C, XM_024449673.1:c.1205A>C, XP_011535341.1:p.Lys402Thr, XP_016877017.1:p.Lys422Thr, XP_011535342.1:p.Lys402Thr, NP_001335072.1:p.Lys402Thr, NP_001335073.1:p.Lys402Thr, NP_001335071.1:p.Lys428Thr, NP_478144.1:p.Lys509Thr, XP_024305440.1:p.Lys428Thr, XP_024305441.1:p.Lys402Thr

Select item 14865628006.

rs1486562800 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:94234599 (GRCh38)
14:94700936 (GRCh37)
Canonical SPDI:: NC_000014.9:94234598:T:C
Gene:: PPP4R4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.94234599T>C, NT_187601.1:g.1349161T>C, NC_000014.8:g.94700936T>C, XM_011537039.3:c.340T>C, XM_011537039.2:c.340T>C, XM_011537039.1:c.340T>C, XM_017021528.3:c.400T>C, XM_017021528.2:c.400T>C, XM_017021528.1:c.400T>C, XM_011537040.3:c.340T>C, XM_011537040.2:c.340T>C, XM_011537040.1:c.340T>C, NM_001348143.2:c.340T>C, NM_001348143.1:c.340T>C, NM_001348144.2:c.340T>C, NM_001348144.1:c.340T>C, NR_145441.2:n.805T>C, NR_145441.1:n.815T>C, NM_001348142.2:c.418T>C, NM_001348142.1:c.418T>C, NM_058237.2:c.661T>C, NM_058237.1:c.661T>C, XM_024449672.2:c.418T>C, XM_024449672.1:c.418T>C, XM_024449673.2:c.340T>C, XM_024449673.1:c.340T>C, XP_011535341.1:p.Cys114Arg, XP_016877017.1:p.Cys134Arg, XP_011535342.1:p.Cys114Arg, NP_001335072.1:p.Cys114Arg, NP_001335073.1:p.Cys114Arg, NP_001335071.1:p.Cys140Arg, NP_478144.1:p.Cys221Arg, XP_024305440.1:p.Cys140Arg, XP_024305441.1:p.Cys114Arg

Select item 14849153047.

rs1484915304 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:94230671 (GRCh38)
14:94697008 (GRCh37)
Canonical SPDI:: NC_000014.9:94230670:A:G
Gene:: PPP4R4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_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_000014.9:g.94230671A>G, NT_187601.1:g.1345233A>G, NC_000014.8:g.94697008A>G, XM_011537039.3:c.58A>G, XM_011537039.2:c.58A>G, XM_011537039.1:c.58A>G, XM_017021528.3:c.118A>G, XM_017021528.2:c.118A>G, XM_017021528.1:c.118A>G, XM_011537040.3:c.58A>G, XM_011537040.2:c.58A>G, XM_011537040.1:c.58A>G, NM_001348143.2:c.58A>G, NM_001348143.1:c.58A>G, NM_001348144.2:c.58A>G, NM_001348144.1:c.58A>G, NR_145441.2:n.523A>G, NR_145441.1:n.533A>G, NM_001348142.2:c.136A>G, NM_001348142.1:c.136A>G, NM_058237.2:c.379A>G, NM_058237.1:c.379A>G, XM_024449672.2:c.136A>G, XM_024449672.1:c.136A>G, XM_024449673.2:c.58A>G, XM_024449673.1:c.58A>G, XP_011535341.1:p.Ile20Val, XP_016877017.1:p.Ile40Val, XP_011535342.1:p.Ile20Val, NP_001335072.1:p.Ile20Val, NP_001335073.1:p.Ile20Val, NP_001335071.1:p.Ile46Val, NP_478144.1:p.Ile127Val, XP_024305440.1:p.Ile46Val, XP_024305441.1:p.Ile20Val

Select item 14830056878.

rs1483005687 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:94256593 (GRCh38)
14:94722930 (GRCh37)
Canonical SPDI:: NC_000014.9:94256592:A:G
Gene:: PPP4R4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000043/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.94256593A>G, NT_187601.1:g.1371155A>G, NC_000014.8:g.94722930A>G, XM_011537039.3:c.1678A>G, XM_011537039.2:c.1678A>G, XM_011537039.1:c.1678A>G, XM_017021528.3:c.1738A>G, XM_017021528.2:c.1738A>G, XM_017021528.1:c.1738A>G, XM_011537040.3:c.1678A>G, XM_011537040.2:c.1678A>G, XM_011537040.1:c.1678A>G, NM_001348143.2:c.1678A>G, NM_001348143.1:c.1678A>G, NM_001348144.2:c.1678A>G, NM_001348144.1:c.1678A>G, NR_145441.2:n.2143A>G, NR_145441.1:n.2153A>G, NM_001348142.2:c.1756A>G, NM_001348142.1:c.1756A>G, NM_058237.2:c.1999A>G, NM_058237.1:c.1999A>G, XM_024449672.2:c.1756A>G, XM_024449672.1:c.1756A>G, XM_024449673.2:c.1678A>G, XM_024449673.1:c.1678A>G, XP_011535341.1:p.Ile560Val, XP_016877017.1:p.Ile580Val, XP_011535342.1:p.Ile560Val, NP_001335072.1:p.Ile560Val, NP_001335073.1:p.Ile560Val, NP_001335071.1:p.Ile586Val, NP_478144.1:p.Ile667Val, XP_024305440.1:p.Ile586Val, XP_024305441.1:p.Ile560Val

Select item 14827168079.

rs1482716807 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:94266984 (GRCh38)
14:94733321 (GRCh37)
Canonical SPDI:: NC_000014.9:94266983:A:G
Gene:: PPP4R4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.0002/1 (ALFA)
G=0.0002/1 (Estonian)
HGVS:: NC_000014.9:g.94266984A>G, NT_187601.1:g.1381546A>G, NC_000014.8:g.94733321A>G, XM_011537039.3:c.2083A>G, XM_011537039.2:c.2083A>G, XM_011537039.1:c.2083A>G, XM_017021528.3:c.2143A>G, XM_017021528.2:c.2143A>G, XM_017021528.1:c.2143A>G, XM_011537040.3:c.2083A>G, XM_011537040.2:c.2083A>G, XM_011537040.1:c.2083A>G, NM_001348143.2:c.2083A>G, NM_001348143.1:c.2083A>G, NM_001348144.2:c.2083A>G, NM_001348144.1:c.2083A>G, NR_145441.2:n.2574A>G, NR_145441.1:n.2584A>G, NM_001348142.2:c.2161A>G, NM_001348142.1:c.2161A>G, NM_058237.2:c.2404A>G, NM_058237.1:c.2404A>G, XM_024449672.2:c.2161A>G, XM_024449672.1:c.2161A>G, XM_024449673.2:c.2083A>G, XM_024449673.1:c.2083A>G, XP_011535341.1:p.Thr695Ala, XP_016877017.1:p.Thr715Ala, XP_011535342.1:p.Thr695Ala, NP_001335072.1:p.Thr695Ala, NP_001335073.1:p.Thr695Ala, NP_001335071.1:p.Thr721Ala, NP_478144.1:p.Thr802Ala, XP_024305440.1:p.Thr721Ala, XP_024305441.1:p.Thr695Ala

Select item 148164598110.

rs1481645981 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:94231310 (GRCh38)
14:94697647 (GRCh37)
Canonical SPDI:: NC_000014.9:94231309:C:A
Gene:: PPP4R4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant
HGVS:: NC_000014.9:g.94231310C>A, NT_187601.1:g.1345872C>A, NC_000014.8:g.94697647C>A, XM_011537039.3:c.190C>A, XM_011537039.2:c.190C>A, XM_011537039.1:c.190C>A, XM_017021528.3:c.250C>A, XM_017021528.2:c.250C>A, XM_017021528.1:c.250C>A, XM_011537040.3:c.190C>A, XM_011537040.2:c.190C>A, XM_011537040.1:c.190C>A, NM_001348143.2:c.190C>A, NM_001348143.1:c.190C>A, NM_001348144.2:c.190C>A, NM_001348144.1:c.190C>A, NR_145441.2:n.655C>A, NR_145441.1:n.665C>A, NM_001348142.2:c.268C>A, NM_001348142.1:c.268C>A, NM_058237.2:c.511C>A, NM_058237.1:c.511C>A, XM_024449672.2:c.268C>A, XM_024449672.1:c.268C>A, XM_024449673.2:c.190C>A, XM_024449673.1:c.190C>A, XP_011535341.1:p.His64Asn, XP_016877017.1:p.His84Asn, XP_011535342.1:p.His64Asn, NP_001335072.1:p.His64Asn, NP_001335073.1:p.His64Asn, NP_001335071.1:p.His90Asn, NP_478144.1:p.His171Asn, XP_024305440.1:p.His90Asn, XP_024305441.1:p.His64Asn

Select item 148152919511.

rs1481529195 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:94258783 (GRCh38)
14:94725120 (GRCh37)
Canonical SPDI:: NC_000014.9:94258782:A:G
Gene:: PPP4R4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.94258783A>G, NT_187601.1:g.1373345A>G, NC_000014.8:g.94725120A>G, XM_011537039.3:c.1690A>G, XM_011537039.2:c.1690A>G, XM_011537039.1:c.1690A>G, XM_017021528.3:c.1750A>G, XM_017021528.2:c.1750A>G, XM_017021528.1:c.1750A>G, XM_011537040.3:c.1690A>G, XM_011537040.2:c.1690A>G, XM_011537040.1:c.1690A>G, NM_001348143.2:c.1690A>G, NM_001348143.1:c.1690A>G, NM_001348144.2:c.1690A>G, NM_001348144.1:c.1690A>G, NR_145441.2:n.2181A>G, NR_145441.1:n.2191A>G, NM_001348142.2:c.1768A>G, NM_001348142.1:c.1768A>G, NM_058237.2:c.2011A>G, NM_058237.1:c.2011A>G, XM_024449672.2:c.1768A>G, XM_024449672.1:c.1768A>G, XM_024449673.2:c.1690A>G, XM_024449673.1:c.1690A>G, XP_011535341.1:p.Thr564Ala, XP_016877017.1:p.Thr584Ala, XP_011535342.1:p.Thr564Ala, NP_001335072.1:p.Thr564Ala, NP_001335073.1:p.Thr564Ala, NP_001335071.1:p.Thr590Ala, NP_478144.1:p.Thr671Ala, XP_024305440.1:p.Thr590Ala, XP_024305441.1:p.Thr564Ala

Select item 148149150712.

rs1481491507 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:94265398 (GRCh38)
14:94731735 (GRCh37)
Canonical SPDI:: NC_000014.9:94265397:A:G
Gene:: PPP4R4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.94265398A>G, NT_187601.1:g.1379960A>G, NC_000014.8:g.94731735A>G, XM_011537039.3:c.1888A>G, XM_011537039.2:c.1888A>G, XM_011537039.1:c.1888A>G, XM_017021528.3:c.1948A>G, XM_017021528.2:c.1948A>G, XM_017021528.1:c.1948A>G, XM_011537040.3:c.1888A>G, XM_011537040.2:c.1888A>G, XM_011537040.1:c.1888A>G, NM_001348143.2:c.1888A>G, NM_001348143.1:c.1888A>G, NM_001348144.2:c.1888A>G, NM_001348144.1:c.1888A>G, NR_145441.2:n.2379A>G, NR_145441.1:n.2389A>G, NM_001348142.2:c.1966A>G, NM_001348142.1:c.1966A>G, NM_058237.2:c.2209A>G, NM_058237.1:c.2209A>G, XM_024449672.2:c.1966A>G, XM_024449672.1:c.1966A>G, XM_024449673.2:c.1888A>G, XM_024449673.1:c.1888A>G, XP_011535341.1:p.Lys630Glu, XP_016877017.1:p.Lys650Glu, XP_011535342.1:p.Lys630Glu, NP_001335072.1:p.Lys630Glu, NP_001335073.1:p.Lys630Glu, NP_001335071.1:p.Lys656Glu, NP_478144.1:p.Lys737Glu, XP_024305440.1:p.Lys656Glu, XP_024305441.1:p.Lys630Glu

Select item 147935808513.

rs1479358085 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:94234644 (GRCh38)
14:94700981 (GRCh37)
Canonical SPDI:: NC_000014.9:94234643:T:C
Gene:: PPP4R4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
HGVS:: NC_000014.9:g.94234644T>C, NT_187601.1:g.1349206T>C, NC_000014.8:g.94700981T>C, XM_011537039.3:c.385T>C, XM_011537039.2:c.385T>C, XM_011537039.1:c.385T>C, XM_017021528.3:c.445T>C, XM_017021528.2:c.445T>C, XM_017021528.1:c.445T>C, XM_011537040.3:c.385T>C, XM_011537040.2:c.385T>C, XM_011537040.1:c.385T>C, NM_001348143.2:c.385T>C, NM_001348143.1:c.385T>C, NM_001348144.2:c.385T>C, NM_001348144.1:c.385T>C, NR_145441.2:n.850T>C, NR_145441.1:n.860T>C, NM_001348142.2:c.463T>C, NM_001348142.1:c.463T>C, NM_058237.2:c.706T>C, NM_058237.1:c.706T>C, XM_024449672.2:c.463T>C, XM_024449672.1:c.463T>C, XM_024449673.2:c.385T>C, XM_024449673.1:c.385T>C

Select item 147795781014.

rs1477957810 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:94241928 (GRCh38)
14:94708265 (GRCh37)
Canonical SPDI:: NC_000014.9:94241927:G:A
Gene:: PPP4R4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.94241928G>A, NT_187601.1:g.1356490G>A, NC_000014.8:g.94708265G>A, XM_011537039.3:c.796G>A, XM_011537039.2:c.796G>A, XM_011537039.1:c.796G>A, XM_017021528.3:c.856G>A, XM_017021528.2:c.856G>A, XM_017021528.1:c.856G>A, XM_011537040.3:c.796G>A, XM_011537040.2:c.796G>A, XM_011537040.1:c.796G>A, NM_001348143.2:c.796G>A, NM_001348143.1:c.796G>A, NM_001348144.2:c.796G>A, NM_001348144.1:c.796G>A, NR_145441.2:n.1261G>A, NR_145441.1:n.1271G>A, NM_001348142.2:c.874G>A, NM_001348142.1:c.874G>A, NM_058237.2:c.1117G>A, NM_058237.1:c.1117G>A, XM_024449672.2:c.874G>A, XM_024449672.1:c.874G>A, XM_024449673.2:c.796G>A, XM_024449673.1:c.796G>A, XP_011535341.1:p.Val266Ile, XP_016877017.1:p.Val286Ile, XP_011535342.1:p.Val266Ile, NP_001335072.1:p.Val266Ile, NP_001335073.1:p.Val266Ile, NP_001335071.1:p.Val292Ile, NP_478144.1:p.Val373Ile, XP_024305440.1:p.Val292Ile, XP_024305441.1:p.Val266Ile

Select item 147512034215.

rs1475120342 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:94230704 (GRCh38)
14:94697041 (GRCh37)
Canonical SPDI:: NC_000014.9:94230703:A:G
Gene:: PPP4R4 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.94230704A>G, NT_187601.1:g.1345266A>G, NC_000014.8:g.94697041A>G, XM_011537039.3:c.91A>G, XM_011537039.2:c.91A>G, XM_011537039.1:c.91A>G, XM_017021528.3:c.151A>G, XM_017021528.2:c.151A>G, XM_017021528.1:c.151A>G, XM_011537040.3:c.91A>G, XM_011537040.2:c.91A>G, XM_011537040.1:c.91A>G, NM_001348143.2:c.91A>G, NM_001348143.1:c.91A>G, NM_001348144.2:c.91A>G, NM_001348144.1:c.91A>G, NR_145441.2:n.556A>G, NR_145441.1:n.566A>G, NM_001348142.2:c.169A>G, NM_001348142.1:c.169A>G, NM_058237.2:c.412A>G, NM_058237.1:c.412A>G, XM_024449672.2:c.169A>G, XM_024449672.1:c.169A>G, XM_024449673.2:c.91A>G, XM_024449673.1:c.91A>G, XP_011535341.1:p.Ile31Val, XP_016877017.1:p.Ile51Val, XP_011535342.1:p.Ile31Val, NP_001335072.1:p.Ile31Val, NP_001335073.1:p.Ile31Val, NP_001335071.1:p.Ile57Val, NP_478144.1:p.Ile138Val, XP_024305440.1:p.Ile57Val, XP_024305441.1:p.Ile31Val

Select item 147500023216.

rs1475000232 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:94241912 (GRCh38)
14:94708249 (GRCh37)
Canonical SPDI:: NC_000014.9:94241911:G:A
Gene:: PPP4R4 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000014.9:g.94241912G>A, NT_187601.1:g.1356474G>A, NC_000014.8:g.94708249G>A, XM_011537039.3:c.780G>A, XM_011537039.2:c.780G>A, XM_011537039.1:c.780G>A, XM_017021528.3:c.840G>A, XM_017021528.2:c.840G>A, XM_017021528.1:c.840G>A, XM_011537040.3:c.780G>A, XM_011537040.2:c.780G>A, XM_011537040.1:c.780G>A, NM_001348143.2:c.780G>A, NM_001348143.1:c.780G>A, NM_001348144.2:c.780G>A, NM_001348144.1:c.780G>A, NR_145441.2:n.1245G>A, NR_145441.1:n.1255G>A, NM_001348142.2:c.858G>A, NM_001348142.1:c.858G>A, NM_058237.2:c.1101G>A, NM_058237.1:c.1101G>A, XM_024449672.2:c.858G>A, XM_024449672.1:c.858G>A, XM_024449673.2:c.780G>A, XM_024449673.1:c.780G>A

Select item 147385771617.

rs1473857716 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:94246532 (GRCh38)
14:94712869 (GRCh37)
Canonical SPDI:: NC_000014.9:94246531:T:C
Gene:: PPP4R4 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.94246532T>C, NT_187601.1:g.1361094T>C, NC_000014.8:g.94712869T>C, XM_011537039.3:c.1283T>C, XM_011537039.2:c.1283T>C, XM_011537039.1:c.1283T>C, XM_017021528.3:c.1343T>C, XM_017021528.2:c.1343T>C, XM_017021528.1:c.1343T>C, XM_011537040.3:c.1283T>C, XM_011537040.2:c.1283T>C, XM_011537040.1:c.1283T>C, NM_001348143.2:c.1283T>C, NM_001348143.1:c.1283T>C, NM_001348144.2:c.1283T>C, NM_001348144.1:c.1283T>C, NR_145441.2:n.1748T>C, NR_145441.1:n.1758T>C, NM_001348142.2:c.1361T>C, NM_001348142.1:c.1361T>C, NM_058237.2:c.1604T>C, NM_058237.1:c.1604T>C, XM_024449672.2:c.1361T>C, XM_024449672.1:c.1361T>C, XM_024449673.2:c.1283T>C, XM_024449673.1:c.1283T>C, XP_011535341.1:p.Met428Thr, XP_016877017.1:p.Met448Thr, XP_011535342.1:p.Met428Thr, NP_001335072.1:p.Met428Thr, NP_001335073.1:p.Met428Thr, NP_001335071.1:p.Met454Thr, NP_478144.1:p.Met535Thr, XP_024305440.1:p.Met454Thr, XP_024305441.1:p.Met428Thr

Select item 147208520218.

rs1472085202 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:94250192 (GRCh38)
14:94716529 (GRCh37)
Canonical SPDI:: NC_000014.9:94250191:G:A
Gene:: PPP4R4 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.94250192G>A, NT_187601.1:g.1364754G>A, NC_000014.8:g.94716529G>A, XM_011537039.3:c.1311G>A, XM_011537039.2:c.1311G>A, XM_011537039.1:c.1311G>A, XM_017021528.3:c.1371G>A, XM_017021528.2:c.1371G>A, XM_017021528.1:c.1371G>A, XM_011537040.3:c.1311G>A, XM_011537040.2:c.1311G>A, XM_011537040.1:c.1311G>A, NM_001348143.2:c.1311G>A, NM_001348143.1:c.1311G>A, NM_001348144.2:c.1311G>A, NM_001348144.1:c.1311G>A, NR_145441.2:n.1776G>A, NR_145441.1:n.1786G>A, NM_001348142.2:c.1389G>A, NM_001348142.1:c.1389G>A, NM_058237.2:c.1632G>A, NM_058237.1:c.1632G>A, XM_024449672.2:c.1389G>A, XM_024449672.1:c.1389G>A, XM_024449673.2:c.1311G>A, XM_024449673.1:c.1311G>A

Select item 147102370019.

rs1471023700 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:94237642 (GRCh38)
14:94703979 (GRCh37)
Canonical SPDI:: NC_000014.9:94237641:C:T
Gene:: PPP4R4 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00034/1 (KOREAN)
HGVS:: NC_000014.9:g.94237642C>T, NT_187601.1:g.1352204C>T, NC_000014.8:g.94703979C>T, XM_011537039.3:c.488C>T, XM_011537039.2:c.488C>T, XM_011537039.1:c.488C>T, XM_017021528.3:c.548C>T, XM_017021528.2:c.548C>T, XM_017021528.1:c.548C>T, XM_011537040.3:c.488C>T, XM_011537040.2:c.488C>T, XM_011537040.1:c.488C>T, NM_001348143.2:c.488C>T, NM_001348143.1:c.488C>T, NM_001348144.2:c.488C>T, NM_001348144.1:c.488C>T, NR_145441.2:n.953C>T, NR_145441.1:n.963C>T, NM_001348142.2:c.566C>T, NM_001348142.1:c.566C>T, NM_058237.2:c.809C>T, NM_058237.1:c.809C>T, XM_024449672.2:c.566C>T, XM_024449672.1:c.566C>T, XM_024449673.2:c.488C>T, XM_024449673.1:c.488C>T, XP_011535341.1:p.Ala163Val, XP_016877017.1:p.Ala183Val, XP_011535342.1:p.Ala163Val, NP_001335072.1:p.Ala163Val, NP_001335073.1:p.Ala163Val, NP_001335071.1:p.Ala189Val, NP_478144.1:p.Ala270Val, XP_024305440.1:p.Ala189Val, XP_024305441.1:p.Ala163Val

Select item 146412587320.

rs1464125873 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:94250222 (GRCh38)
14:94716559 (GRCh37)
Canonical SPDI:: NC_000014.9:94250221:G:A
Gene:: PPP4R4 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.94250222G>A, NT_187601.1:g.1364784G>A, NC_000014.8:g.94716559G>A, XM_011537039.3:c.1341G>A, XM_011537039.2:c.1341G>A, XM_011537039.1:c.1341G>A, XM_017021528.3:c.1401G>A, XM_017021528.2:c.1401G>A, XM_017021528.1:c.1401G>A, XM_011537040.3:c.1341G>A, XM_011537040.2:c.1341G>A, XM_011537040.1:c.1341G>A, NM_001348143.2:c.1341G>A, NM_001348143.1:c.1341G>A, NM_001348144.2:c.1341G>A, NM_001348144.1:c.1341G>A, NR_145441.2:n.1806G>A, NR_145441.1:n.1816G>A, NM_001348142.2:c.1419G>A, NM_001348142.1:c.1419G>A, NM_058237.2:c.1662G>A, NM_058237.1:c.1662G>A, XM_024449672.2:c.1419G>A, XM_024449672.1:c.1419G>A, XM_024449673.2:c.1341G>A, XM_024449673.1:c.1341G>A

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