SNP Links for Protein (Select 966751422) - SNP

Links from Protein

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Select item 14896254791.

rs1489625479 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 3:73065651 (GRCh38)
3:73114802 (GRCh37)
Canonical SPDI:: NC_000003.12:73065650:C:A,NC_000003.12:73065650:C:G
Gene:: PPP4R2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00004/1 (TOMMO)
HGVS:: NC_000003.12:g.73065651C>A, NC_000003.12:g.73065651C>G, NC_000003.11:g.73114802C>A, NC_000003.11:g.73114802C>G, NM_174907.4:c.1183C>A, NM_174907.4:c.1183C>G, NM_174907.3:c.1183C>A, NM_174907.3:c.1183C>G, NM_174907.2:c.1183C>A, NM_174907.2:c.1183C>G, NM_001318025.2:c.1012C>A, NM_001318025.2:c.1012C>G, NM_001318025.1:c.1012C>A, NM_001318025.1:c.1012C>G, NM_001318026.2:c.1069C>A, NM_001318026.2:c.1069C>G, NM_001318026.1:c.1069C>A, NM_001318026.1:c.1069C>G, NM_001318027.2:c.670C>A, NM_001318027.2:c.670C>G, NM_001318027.1:c.670C>A, NM_001318027.1:c.670C>G, NM_019853.1:c.*57C>A, NM_019853.1:c.*57C>G, NP_777567.1:p.Leu395Ile, NP_777567.1:p.Leu395Val, NP_001304954.1:p.Leu338Ile, NP_001304954.1:p.Leu338Val, NP_001304955.1:p.Leu357Ile, NP_001304955.1:p.Leu357Val, NP_001304956.1:p.Leu224Ile, NP_001304956.1:p.Leu224Val

Select item 14888278162.

rs1488827816 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:73065555 (GRCh38)
3:73114706 (GRCh37)
Canonical SPDI:: NC_000003.12:73065554:G:A
Gene:: PPP4R2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.73065555G>A, NC_000003.11:g.73114706G>A, NM_174907.4:c.1087G>A, NM_174907.3:c.1087G>A, NM_174907.2:c.1087G>A, NM_001318025.2:c.916G>A, NM_001318025.1:c.916G>A, NM_001318026.2:c.973G>A, NM_001318026.1:c.973G>A, NM_001318027.2:c.574G>A, NM_001318027.1:c.574G>A, NM_019853.1:c.1321G>A, NP_777567.1:p.Gly363Ser, NP_001304954.1:p.Gly306Ser, NP_001304955.1:p.Gly325Ser, NP_001304956.1:p.Gly192Ser

Select item 14832903783.

rs1483290378 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:73064103 (GRCh38)
3:73113254 (GRCh37)
Canonical SPDI:: NC_000003.12:73064102:A:G
Gene:: PPP4R2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.73064103A>G, NC_000003.11:g.73113254A>G, NM_174907.4:c.595A>G, NM_174907.3:c.595A>G, NM_174907.2:c.595A>G, NM_001318025.2:c.424A>G, NM_001318025.1:c.424A>G, NM_001318026.2:c.481A>G, NM_001318026.1:c.481A>G, NM_001318027.2:c.82A>G, NM_001318027.1:c.82A>G, NM_019853.1:c.829A>G, NP_777567.1:p.Ser199Gly, NP_001304954.1:p.Ser142Gly, NP_001304955.1:p.Ser161Gly, NP_001304956.1:p.Ser28Gly

Select item 14751374224.

rs1475137422 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:73064065 (GRCh38)
3:73113216 (GRCh37)
Canonical SPDI:: NC_000003.12:73064064:C:A,NC_000003.12:73064064:C:T
Gene:: PPP4R2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_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_000003.12:g.73064065C>A, NC_000003.12:g.73064065C>T, NC_000003.11:g.73113216C>A, NC_000003.11:g.73113216C>T, NM_174907.4:c.557C>A, NM_174907.4:c.557C>T, NM_174907.3:c.557C>A, NM_174907.3:c.557C>T, NM_174907.2:c.557C>A, NM_174907.2:c.557C>T, NM_001318025.2:c.386C>A, NM_001318025.2:c.386C>T, NM_001318025.1:c.386C>A, NM_001318025.1:c.386C>T, NM_001318026.2:c.443C>A, NM_001318026.2:c.443C>T, NM_001318026.1:c.443C>A, NM_001318026.1:c.443C>T, NM_001318027.2:c.44C>A, NM_001318027.2:c.44C>T, NM_001318027.1:c.44C>A, NM_001318027.1:c.44C>T, NM_019853.1:c.791C>A, NM_019853.1:c.791C>T, NP_777567.1:p.Ala186Asp, NP_777567.1:p.Ala186Val, NP_001304954.1:p.Ala129Asp, NP_001304954.1:p.Ala129Val, NP_001304955.1:p.Ala148Asp, NP_001304955.1:p.Ala148Val, NP_001304956.1:p.Ala15Asp, NP_001304956.1:p.Ala15Val

Select item 14723096415.

rs1472309641 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:73064972 (GRCh38)
3:73114123 (GRCh37)
Canonical SPDI:: NC_000003.12:73064971:A:G
Gene:: PPP4R2 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.73064972A>G, NC_000003.11:g.73114123A>G, NM_174907.4:c.759A>G, NM_174907.3:c.759A>G, NM_174907.2:c.759A>G, NM_001318025.2:c.588A>G, NM_001318025.1:c.588A>G, NM_001318026.2:c.645A>G, NM_001318026.1:c.645A>G, NM_001318027.2:c.246A>G, NM_001318027.1:c.246A>G, NM_019853.1:c.993A>G

Select item 14613570436.

rs1461357043 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:73065440 (GRCh38)
3:73114591 (GRCh37)
Canonical SPDI:: NC_000003.12:73065439:T:C
Gene:: PPP4R2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000003.12:g.73065440T>C, NC_000003.11:g.73114591T>C, NM_174907.4:c.972T>C, NM_174907.3:c.972T>C, NM_174907.2:c.972T>C, NM_001318025.2:c.801T>C, NM_001318025.1:c.801T>C, NM_001318026.2:c.858T>C, NM_001318026.1:c.858T>C, NM_001318027.2:c.459T>C, NM_001318027.1:c.459T>C, NM_019853.1:c.1206T>C

Select item 14585988517.

rs1458598851 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:73065141 (GRCh38)
3:73114292 (GRCh37)
Canonical SPDI:: NC_000003.12:73065140:G:C
Gene:: PPP4R2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.73065141G>C, NC_000003.11:g.73114292G>C, NM_174907.4:c.928G>C, NM_174907.3:c.928G>C, NM_174907.2:c.928G>C, NM_001318025.2:c.757G>C, NM_001318025.1:c.757G>C, NM_001318026.2:c.814G>C, NM_001318026.1:c.814G>C, NM_001318027.2:c.415G>C, NM_001318027.1:c.415G>C, NM_019853.1:c.1162G>C, NP_777567.1:p.Glu310Gln, NP_001304954.1:p.Glu253Gln, NP_001304955.1:p.Glu272Gln, NP_001304956.1:p.Glu139Gln

Select item 14576603148.

rs1457660314 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 3:73065472 (GRCh38)
3:73114623 (GRCh37)
Canonical SPDI:: NC_000003.12:73065469:TGTG:TG
Gene:: PPP4R2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.73065470TG[1], NC_000003.11:g.73114621TG[1], NM_174907.4:c.1004_1005del, NM_174907.3:c.1004_1005del, NM_174907.2:c.1004_1005del, NM_001318025.2:c.833_834del, NM_001318025.1:c.833_834del, NM_001318026.2:c.890_891del, NM_001318026.1:c.890_891del, NM_001318027.2:c.491_492del, NM_001318027.1:c.491_492del, NM_019853.1:c.1238_1239del, NP_777567.1:p.Val335fs, NP_001304954.1:p.Val278fs, NP_001304955.1:p.Val297fs, NP_001304956.1:p.Val164fs

Select item 14565954239.

rs1456595423 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:73063724 (GRCh38)
3:73112875 (GRCh37)
Canonical SPDI:: NC_000003.12:73063723:A:G
Gene:: EBLN2 (Varview), PPP4R2 (Varview)
Functional Consequence:: 500B_downstream_variant,coding_sequence_variant,downstream_transcript_variant,synonymous_variant,missense_variant,genic_downstream_transcript_variant
HGVS:: NC_000003.12:g.73063724A>G, NC_000003.11:g.73112875A>G, NM_174907.4:c.471A>G, NM_174907.3:c.471A>G, NM_174907.2:c.471A>G, NM_001318025.2:c.300A>G, NM_001318025.1:c.300A>G, NM_001318026.2:c.357A>G, NM_001318026.1:c.357A>G, NM_001318027.2:c.20A>G, NM_001318027.1:c.20A>G, NM_019853.1:c.705A>G, NP_001304956.1:p.Glu7Gly

Select item 145596744510.

rs1455967445 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:73064916 (GRCh38)
3:73114067 (GRCh37)
Canonical SPDI:: NC_000003.12:73064915:G:A
Gene:: PPP4R2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_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_000003.12:g.73064916G>A, NC_000003.11:g.73114067G>A, NM_174907.4:c.703G>A, NM_174907.3:c.703G>A, NM_174907.2:c.703G>A, NM_001318025.2:c.532G>A, NM_001318025.1:c.532G>A, NM_001318026.2:c.589G>A, NM_001318026.1:c.589G>A, NM_001318027.2:c.190G>A, NM_001318027.1:c.190G>A, NM_019853.1:c.937G>A, NP_777567.1:p.Glu235Lys, NP_001304954.1:p.Glu178Lys, NP_001304955.1:p.Glu197Lys, NP_001304956.1:p.Glu64Lys

Select item 145060574311.

rs1450605743 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:73064892 (GRCh38)
3:73114043 (GRCh37)
Canonical SPDI:: NC_000003.12:73064891:C:T
Gene:: PPP4R2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.73064892C>T, NC_000003.11:g.73114043C>T, NM_174907.4:c.679C>T, NM_174907.3:c.679C>T, NM_174907.2:c.679C>T, NM_001318025.2:c.508C>T, NM_001318025.1:c.508C>T, NM_001318026.2:c.565C>T, NM_001318026.1:c.565C>T, NM_001318027.2:c.166C>T, NM_001318027.1:c.166C>T, NM_019853.1:c.913C>T, NP_777567.1:p.Pro227Ser, NP_001304954.1:p.Pro170Ser, NP_001304955.1:p.Pro189Ser, NP_001304956.1:p.Pro56Ser

Select item 144927173812.

rs1449271738 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:73065487 (GRCh38)
3:73114638 (GRCh37)
Canonical SPDI:: NC_000003.12:73065486:C:G
Gene:: PPP4R2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.73065487C>G, NC_000003.11:g.73114638C>G, NM_174907.4:c.1019C>G, NM_174907.3:c.1019C>G, NM_174907.2:c.1019C>G, NM_001318025.2:c.848C>G, NM_001318025.1:c.848C>G, NM_001318026.2:c.905C>G, NM_001318026.1:c.905C>G, NM_001318027.2:c.506C>G, NM_001318027.1:c.506C>G, NM_019853.1:c.1253C>G, NP_777567.1:p.Ser340Cys, NP_001304954.1:p.Ser283Cys, NP_001304955.1:p.Ser302Cys, NP_001304956.1:p.Ser169Cys

Select item 144610765313.

rs1446107653 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:73064105 (GRCh38)
3:73113256 (GRCh37)
Canonical SPDI:: NC_000003.12:73064104:C:A
Gene:: PPP4R2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000003.12:g.73064105C>A, NC_000003.11:g.73113256C>A, NM_174907.4:c.597C>A, NM_174907.3:c.597C>A, NM_174907.2:c.597C>A, NM_001318025.2:c.426C>A, NM_001318025.1:c.426C>A, NM_001318026.2:c.483C>A, NM_001318026.1:c.483C>A, NM_001318027.2:c.84C>A, NM_001318027.1:c.84C>A, NM_019853.1:c.831C>A, NP_777567.1:p.Ser199Arg, NP_001304954.1:p.Ser142Arg, NP_001304955.1:p.Ser161Arg, NP_001304956.1:p.Ser28Arg

Select item 144521478614.

rs1445214786 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:73064876 (GRCh38)
3:73114027 (GRCh37)
Canonical SPDI:: NC_000003.12:73064875:A:G
Gene:: PPP4R2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.73064876A>G, NC_000003.11:g.73114027A>G, NM_174907.4:c.663A>G, NM_174907.3:c.663A>G, NM_174907.2:c.663A>G, NM_001318025.2:c.492A>G, NM_001318025.1:c.492A>G, NM_001318026.2:c.549A>G, NM_001318026.1:c.549A>G, NM_001318027.2:c.150A>G, NM_001318027.1:c.150A>G, NM_019853.1:c.897A>G

Select item 144412786215.

rs1444127862 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:73064944 (GRCh38)
3:73114095 (GRCh37)
Canonical SPDI:: NC_000003.12:73064943:A:C
Gene:: PPP4R2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.73064944A>C, NC_000003.11:g.73114095A>C, NM_174907.4:c.731A>C, NM_174907.3:c.731A>C, NM_174907.2:c.731A>C, NM_001318025.2:c.560A>C, NM_001318025.1:c.560A>C, NM_001318026.2:c.617A>C, NM_001318026.1:c.617A>C, NM_001318027.2:c.218A>C, NM_001318027.1:c.218A>C, NM_019853.1:c.965A>C, NP_777567.1:p.Glu244Ala, NP_001304954.1:p.Glu187Ala, NP_001304955.1:p.Glu206Ala, NP_001304956.1:p.Glu73Ala

Select item 144083003316.

rs1440830033 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:73065631 (GRCh38)
3:73114782 (GRCh37)
Canonical SPDI:: NC_000003.12:73065630:C:T
Gene:: PPP4R2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_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)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.73065631C>T, NC_000003.11:g.73114782C>T, NM_174907.4:c.1163C>T, NM_174907.3:c.1163C>T, NM_174907.2:c.1163C>T, NM_001318025.2:c.992C>T, NM_001318025.1:c.992C>T, NM_001318026.2:c.1049C>T, NM_001318026.1:c.1049C>T, NM_001318027.2:c.650C>T, NM_001318027.1:c.650C>T, NM_019853.1:c.*36C>T, NP_777567.1:p.Ser388Phe, NP_001304954.1:p.Ser331Phe, NP_001304955.1:p.Ser350Phe, NP_001304956.1:p.Ser217Phe

Select item 144042426117.

rs1440424261 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:73065655 (GRCh38)
3:73114806 (GRCh37)
Canonical SPDI:: NC_000003.12:73065654:C:T
Gene:: PPP4R2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.73065655C>T, NC_000003.11:g.73114806C>T, NM_174907.4:c.1187C>T, NM_174907.3:c.1187C>T, NM_174907.2:c.1187C>T, NM_001318025.2:c.1016C>T, NM_001318025.1:c.1016C>T, NM_001318026.2:c.1073C>T, NM_001318026.1:c.1073C>T, NM_001318027.2:c.674C>T, NM_001318027.1:c.674C>T, NM_019853.1:c.*61C>T, NP_777567.1:p.Ser396Leu, NP_001304954.1:p.Ser339Leu, NP_001304955.1:p.Ser358Leu, NP_001304956.1:p.Ser225Leu

Select item 143260215518.

rs1432602155 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:73065502 (GRCh38)
3:73114653 (GRCh37)
Canonical SPDI:: NC_000003.12:73065501:A:G
Gene:: PPP4R2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000003.12:g.73065502A>G, NC_000003.11:g.73114653A>G, NM_174907.4:c.1034A>G, NM_174907.3:c.1034A>G, NM_174907.2:c.1034A>G, NM_001318025.2:c.863A>G, NM_001318025.1:c.863A>G, NM_001318026.2:c.920A>G, NM_001318026.1:c.920A>G, NM_001318027.2:c.521A>G, NM_001318027.1:c.521A>G, NM_019853.1:c.1268A>G, NP_777567.1:p.Gln345Arg, NP_001304954.1:p.Gln288Arg, NP_001304955.1:p.Gln307Arg, NP_001304956.1:p.Gln174Arg

Select item 143235151919.

rs1432351519 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:73065518 (GRCh38)
3:73114669 (GRCh37)
Canonical SPDI:: NC_000003.12:73065517:T:C
Gene:: PPP4R2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.73065518T>C, NC_000003.11:g.73114669T>C, NM_174907.4:c.1050T>C, NM_174907.3:c.1050T>C, NM_174907.2:c.1050T>C, NM_001318025.2:c.879T>C, NM_001318025.1:c.879T>C, NM_001318026.2:c.936T>C, NM_001318026.1:c.936T>C, NM_001318027.2:c.537T>C, NM_001318027.1:c.537T>C, NM_019853.1:c.1284T>C

Select item 142725126220.

rs1427251262 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:73064078 (GRCh38)
3:73113229 (GRCh37)
Canonical SPDI:: NC_000003.12:73064077:A:C
Gene:: PPP4R2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.73064078A>C, NC_000003.11:g.73113229A>C, NM_174907.4:c.570A>C, NM_174907.3:c.570A>C, NM_174907.2:c.570A>C, NM_001318025.2:c.399A>C, NM_001318025.1:c.399A>C, NM_001318026.2:c.456A>C, NM_001318026.1:c.456A>C, NM_001318027.2:c.57A>C, NM_001318027.1:c.57A>C, NM_019853.1:c.804A>C

dbSNP

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