SNP Links for Protein (Select 4506183) - SNP

Links from Protein

Items: 1 to 20 of 194

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Select item 14894429181.

rs1489442918 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:58257802 (GRCh38)
14:58724520 (GRCh37)
Canonical SPDI:: NC_000014.9:58257801:G:A
Gene:: PSMA3 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.58257802G>A, NC_000014.8:g.58724520G>A, NM_002788.4:c.286G>A, NM_002788.3:c.286G>A, NM_152132.3:c.286G>A, NM_152132.2:c.286G>A, NR_038123.2:n.281G>A, NR_038123.1:n.319G>A, NP_002779.1:p.Ala96Thr, NP_687033.1:p.Ala96Thr

Select item 14747231422.

rs1474723142 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:58257772 (GRCh38)
14:58724490 (GRCh37)
Canonical SPDI:: NC_000014.9:58257771:C:T
Gene:: PSMA3 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000033/1 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000014.9:g.58257772C>T, NC_000014.8:g.58724490C>T, NM_002788.4:c.256C>T, NM_002788.3:c.256C>T, NM_152132.3:c.256C>T, NM_152132.2:c.256C>T, NR_038123.2:n.251C>T, NR_038123.1:n.289C>T, NP_002779.1:p.Arg86Cys, NP_687033.1:p.Arg86Cys

Select item 14724178963.

rs1472417896 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:58257816 (GRCh38)
14:58724534 (GRCh37)
Canonical SPDI:: NC_000014.9:58257815:A:G
Gene:: PSMA3 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_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_000014.9:g.58257816A>G, NC_000014.8:g.58724534A>G, NM_002788.4:c.300A>G, NM_002788.3:c.300A>G, NM_152132.3:c.300A>G, NM_152132.2:c.300A>G, NR_038123.2:n.295A>G, NR_038123.1:n.333A>G

Select item 14672813294.

rs1467281329 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 14:58257927 (GRCh38)
14:58724645 (GRCh37)
Canonical SPDI:: NC_000014.9:58257926:T:A
Gene:: PSMA3 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.58257927T>A, NC_000014.8:g.58724645T>A, NM_002788.4:c.333T>A, NM_002788.3:c.333T>A, NM_152132.3:c.333T>A, NM_152132.2:c.333T>A, NR_038123.2:n.328T>A, NR_038123.1:n.366T>A, NP_002779.1:p.His111Gln, NP_687033.1:p.His111Gln

Select item 14672372295.

rs1467237229 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAAA>- [Show Flanks]
Chromosome:: 14:58267480 (GRCh38)
14:58734198 (GRCh37)
Canonical SPDI:: NC_000014.9:58267475:GAAAGAAA:GAAA
Gene:: PSMA3 (Varview), PSMA3-AS1 (Varview)
Functional Consequence:: intron_variant,stop_gained,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000014.9:g.58267476GAAA[1], NC_000014.8:g.58734194GAAA[1], NM_002788.4:c.550_553del, NM_002788.3:c.550_553del, NM_152132.3:c.529_532del, NM_152132.2:c.529_532del, NR_038123.2:n.541GAAA[1], NR_038123.1:n.579GAAA[1], NP_002779.1:p.Lys183_Glu184insTer, NP_687033.1:p.Lys176_Glu177insTer

Select item 14659829166.

rs1465982916 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 14:58257931 (GRCh38)
14:58724649 (GRCh37)
Canonical SPDI:: NC_000014.9:58257930:G:T
Gene:: PSMA3 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.58257931G>T, NC_000014.8:g.58724649G>T, NM_002788.4:c.337G>T, NM_002788.3:c.337G>T, NM_152132.3:c.337G>T, NM_152132.2:c.337G>T, NR_038123.2:n.332G>T, NR_038123.1:n.370G>T, NP_002779.1:p.Ala113Ser, NP_687033.1:p.Ala113Ser

Select item 14656745817.

rs1465674581 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:58270957 (GRCh38)
14:58737675 (GRCh37)
Canonical SPDI:: NC_000014.9:58270956:G:A
Gene:: PSMA3 (Varview), PSMA3-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000014.9:g.58270957G>A, NC_000014.8:g.58737675G>A, NM_002788.4:c.682G>A, NM_002788.3:c.682G>A, NM_152132.3:c.661G>A, NM_152132.2:c.661G>A, NR_038123.2:n.677G>A, NR_038123.1:n.715G>A, NP_002779.1:p.Val228Ile, NP_687033.1:p.Val221Ile

Select item 14630780228.

rs1463078022 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:58271885 (GRCh38)
14:58738603 (GRCh37)
Canonical SPDI:: NC_000014.9:58271884:A:G
Gene:: PSMA3 (Varview), PSMA3-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000014.9:g.58271885A>G, NC_000014.8:g.58738603A>G, NM_002788.4:c.758A>G, NM_002788.3:c.758A>G, NM_152132.3:c.737A>G, NM_152132.2:c.737A>G, NR_038123.2:n.753A>G, NR_038123.1:n.791A>G, NP_002779.1:p.Asp253Gly, NP_687033.1:p.Asp246Gly

Select item 14549255829.

rs1454925582 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 14:58270441 (GRCh38)
14:58737159 (GRCh37)
Canonical SPDI:: NC_000014.9:58270440:T:A
Gene:: PSMA3 (Varview), PSMA3-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.58270441T>A, NC_000014.8:g.58737159T>A, NM_002788.4:c.614T>A, NM_002788.3:c.614T>A, NM_152132.3:c.593T>A, NM_152132.2:c.593T>A, NR_038123.2:n.609T>A, NR_038123.1:n.647T>A, NP_002779.1:p.Val205Asp, NP_687033.1:p.Val198Asp

Select item 144908350110.

rs1449083501 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 14:58252160 (GRCh38)
14:58718878 (GRCh37)
Canonical SPDI:: NC_000014.9:58252159:G:C,NC_000014.9:58252159:G:T
Gene:: PSMA3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000014.9:g.58252160G>C, NC_000014.9:g.58252160G>T, NC_000014.8:g.58718878G>C, NC_000014.8:g.58718878G>T, NM_002788.4:c.146G>C, NM_002788.4:c.146G>T, NM_002788.3:c.146G>C, NM_002788.3:c.146G>T, NM_152132.3:c.146G>C, NM_152132.3:c.146G>T, NM_152132.2:c.146G>C, NM_152132.2:c.146G>T, NR_038123.2:n.141G>C, NR_038123.2:n.141G>T, NR_038123.1:n.179G>C, NR_038123.1:n.179G>T, NP_002779.1:p.Gly49Ala, NP_002779.1:p.Gly49Val, NP_687033.1:p.Gly49Ala, NP_687033.1:p.Gly49Val

Select item 144059014011.

rs1440590140 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTTAT [Show Flanks]
Chromosome:: 14:58270962 (GRCh38)
14:58737681 (GRCh37)
Canonical SPDI:: NC_000014.9:58270962::TTTAT
Gene:: PSMA3 (Varview), PSMA3-AS1 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000014.9:g.58270962_58270963insTTTAT, NC_000014.8:g.58737680_58737681insTTTAT, NM_002788.4:c.687_688insTTTAT, NM_002788.3:c.687_688insTTTAT, NM_152132.3:c.666_667insTTTAT, NM_152132.2:c.666_667insTTTAT, NR_038123.2:n.682_683insTTTAT, NR_038123.1:n.720_721insTTTAT, NP_002779.1:p.Lys230fs, NP_687033.1:p.Lys223fs

Select item 144026391212.

rs1440263912 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:58263768 (GRCh38)
14:58730486 (GRCh37)
Canonical SPDI:: NC_000014.9:58263767:C:A
Gene:: PSMA3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.58263768C>A, NC_000014.8:g.58730486C>A, NM_002788.4:c.541C>A, NM_002788.3:c.541C>A, NM_152132.3:c.520C>A, NM_152132.2:c.520C>A, NR_038123.2:n.536C>A, NR_038123.1:n.574C>A, NP_002779.1:p.Gln181Lys, NP_687033.1:p.Gln174Lys

Select item 143773393413.

rs1437733934 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:58270457 (GRCh38)
14:58737175 (GRCh37)
Canonical SPDI:: NC_000014.9:58270456:T:C
Gene:: PSMA3 (Varview), PSMA3-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000014.9:g.58270457T>C, NC_000014.8:g.58737175T>C, NM_002788.4:c.630T>C, NM_002788.3:c.630T>C, NM_152132.3:c.609T>C, NM_152132.2:c.609T>C, NR_038123.2:n.625T>C, NR_038123.1:n.663T>C

Select item 143225699414.

rs1432256994 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTCT>- [Show Flanks]
Chromosome:: 14:58252179 (GRCh38)
14:58718897 (GRCh37)
Canonical SPDI:: NC_000014.9:58252176:CTTTCT:CT
Gene:: PSMA3 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.58252179_58252182del, NC_000014.8:g.58718897_58718900del, NM_002788.4:c.165_168del, NM_002788.3:c.165_168del, NM_152132.3:c.165_168del, NM_152132.2:c.165_168del, NR_038123.2:n.160_163del, NR_038123.1:n.198_201del, NP_002779.1:p.Ser56fs, NP_687033.1:p.Ser56fs

Select item 142800023315.

rs1428000233 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTAAA [Show Flanks]
Chromosome:: 14:58270951 (GRCh38)
14:58737670 (GRCh37)
Canonical SPDI:: NC_000014.9:58270951:AAA:AAAGTAAA
Gene:: PSMA3 (Varview), PSMA3-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
HGVS:: NC_000014.9:g.58270954_58270955insGTAAA, NC_000014.8:g.58737672_58737673insGTAAA, NM_002788.4:c.679_680insGTAAA, NM_002788.3:c.679_680insGTAAA, NM_152132.3:c.658_659insGTAAA, NM_152132.2:c.658_659insGTAAA, NR_038123.2:n.674_675insGTAAA, NR_038123.1:n.712_713insGTAAA, NP_002779.1:p.Ile227fs, NP_687033.1:p.Ile220fs

Select item 142453306616.

rs1424533066 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 14:58257826 (GRCh38)
14:58724544 (GRCh37)
Canonical SPDI:: NC_000014.9:58257825:G:T
Gene:: PSMA3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_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_000014.9:g.58257826G>T, NC_000014.8:g.58724544G>T, NM_002788.4:c.310G>T, NM_002788.3:c.310G>T, NM_152132.3:c.310G>T, NM_152132.2:c.310G>T, NR_038123.2:n.305G>T, NR_038123.1:n.343G>T, NP_002779.1:p.Gly104Cys, NP_687033.1:p.Gly104Cys

Select item 141954461317.

rs1419544613 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:58252121 (GRCh38)
14:58718839 (GRCh37)
Canonical SPDI:: NC_000014.9:58252120:C:T
Gene:: PSMA3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.58252121C>T, NC_000014.8:g.58718839C>T, NM_002788.4:c.107C>T, NM_002788.3:c.107C>T, NM_152132.3:c.107C>T, NM_152132.2:c.107C>T, NR_038123.2:n.102C>T, NR_038123.1:n.140C>T, NP_002779.1:p.Thr36Ile, NP_687033.1:p.Thr36Ile

Select item 141375558818.

rs1413755588 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:58247788 (GRCh38)
14:58714506 (GRCh37)
Canonical SPDI:: NC_000014.9:58247787:A:G
Gene:: PSMA3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.58247788A>G, NC_000014.8:g.58714506A>G, NM_002788.4:c.60A>G, NM_002788.3:c.60A>G, NM_152132.3:c.60A>G, NM_152132.2:c.60A>G

Select item 140395449819.

rs1403954498 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:58267498 (GRCh38)
14:58734216 (GRCh37)
Canonical SPDI:: NC_000014.9:58267497:A:G
Gene:: PSMA3 (Varview), PSMA3-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000043/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
G=0.000743/12 (TOMMO)
HGVS:: NC_000014.9:g.58267498A>G, NC_000014.8:g.58734216A>G, NM_002788.4:c.568A>G, NM_002788.3:c.568A>G, NM_152132.3:c.547A>G, NM_152132.2:c.547A>G, NR_038123.2:n.563A>G, NR_038123.1:n.601A>G, NP_002779.1:p.Ile190Val, NP_687033.1:p.Ile183Val

Select item 138693252220.

rs1386932522 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:58270461 (GRCh38)
14:58737179 (GRCh37)
Canonical SPDI:: NC_000014.9:58270460:C:T
Gene:: PSMA3 (Varview), PSMA3-AS1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000014.9:g.58270461C>T, NC_000014.8:g.58737179C>T, NM_002788.4:c.634C>T, NM_002788.3:c.634C>T, NM_152132.3:c.613C>T, NM_152132.2:c.613C>T, NR_038123.2:n.629C>T, NR_038123.1:n.667C>T

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