SNP Links for Protein (Select 768040540) - SNP

Links from Protein

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Select item 14908499881.

rs1490849988 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: Y:386670 (GRCh38)
Y:297405 (GRCh37)
Canonical SPDI:: NC_000024.10:386669:G:A
Gene:: PPP2R3B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,stop_gained,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000024.10:g.386670G>A, NC_000024.9:g.297405G>A, NG_013257.1:g.5223C>T, NM_013239.5:c.22C>T, NM_013239.4:c.22C>T, NC_000023.11:g.386670G>A, NC_000023.10:g.347405G>A, NT_187634.1:g.70023G>A, NT_187667.1:g.59163G>A, XM_011546177.4:c.22C>T, XM_011546177.3:c.22C>T, XM_011546177.2:c.22C>T, XM_011546177.1:c.22C>T, XM_011545630.4:c.22C>T, XM_011545630.3:c.22C>T, XM_011545630.2:c.22C>T, XM_011545630.1:c.22C>T, XM_047442005.1:c.-604C>T, XM_047442004.1:c.-540C>T, XM_047442001.1:c.22C>T, XM_047442726.1:c.-540C>T, XM_047442723.1:c.22C>T, XM_047442727.1:c.-604C>T, XM_047442890.1:c.22C>T, XM_047442956.1:c.22C>T, XM_047442953.1:c.22C>T, XM_047442957.1:c.22C>T, XM_047442955.1:c.22C>T, XM_047442889.1:c.22C>T, NP_037371.2:p.Gln8Ter, XP_011543932.1:p.Gln8Ter, XP_047298679.1:p.Gln8Ter

Select item 14901354412.

rs1490135441 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: Y:386632 (GRCh38)
Y:297367 (GRCh37)
Canonical SPDI:: NC_000024.10:386631:C:T
Gene:: PPP2R3B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000024.10:g.386632C>T, NC_000024.9:g.297367C>T, NG_013257.1:g.5261G>A, NM_013239.5:c.60G>A, NM_013239.4:c.60G>A, NC_000023.11:g.386632C>T, NC_000023.10:g.347367C>T, NT_187634.1:g.69985C>T, NT_187667.1:g.59125C>T, XM_011546177.4:c.60G>A, XM_011546177.3:c.60G>A, XM_011546177.2:c.60G>A, XM_011546177.1:c.60G>A, XM_011545630.4:c.60G>A, XM_011545630.3:c.60G>A, XM_011545630.2:c.60G>A, XM_011545630.1:c.60G>A, XM_047442005.1:c.-566G>A, XM_047442004.1:c.-502G>A, XM_047442727.1:c.-566G>A, XM_047442726.1:c.-502G>A, XM_047442723.1:c.60G>A, XM_047442001.1:c.60G>A, XM_047442890.1:c.60G>A, XM_047442956.1:c.60G>A, XM_047442953.1:c.60G>A, XM_047442957.1:c.60G>A, XM_047442955.1:c.60G>A, XM_047442889.1:c.60G>A

Select item 14876954443.

rs1487695444 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: Y:361421 (GRCh38)
Y:272156 (GRCh37)
Canonical SPDI:: NC_000024.10:361420:A:G
Gene:: PPP2R3B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000024.10:g.361421A>G, NC_000024.9:g.272156A>G, NG_013257.1:g.30472T>C, NM_013239.5:c.494T>C, NM_013239.4:c.494T>C, NC_000023.11:g.361421A>G, NC_000023.10:g.322156A>G, NT_187634.1:g.44774A>G, NT_187667.1:g.33914A>G, XM_011546177.4:c.494T>C, XM_011546177.3:c.494T>C, XM_011546177.2:c.494T>C, XM_011546177.1:c.494T>C, XM_011545630.4:c.494T>C, XM_011545630.3:c.494T>C, XM_011545630.2:c.494T>C, XM_011545630.1:c.494T>C, XM_047442002.1:c.410T>C, XM_047442006.1:c.410T>C, XM_047442001.1:c.494T>C, XM_047442724.1:c.410T>C, XM_047442728.1:c.410T>C, XM_047442727.1:c.11T>C, XM_047442725.1:c.11T>C, XM_047442726.1:c.11T>C, XM_047442723.1:c.494T>C, XM_047442004.1:c.11T>C, XM_047442005.1:c.11T>C, XM_047442003.1:c.11T>C, XM_047442954.1:c.410T>C, XM_047442960.1:c.410T>C, XM_047442890.1:c.494T>C, XM_047442956.1:c.494T>C, XM_047442958.1:c.11T>C, XM_047442953.1:c.494T>C, XM_047442959.1:c.11T>C, XM_047442957.1:c.494T>C, XM_047442955.1:c.494T>C, XM_047442889.1:c.494T>C, NP_037371.2:p.Met165Thr, XP_011543932.1:p.Met165Thr, XP_047298680.1:p.Met137Thr, XP_047298684.1:p.Met137Thr, XP_047298683.1:p.Met4Thr, XP_047298681.1:p.Met4Thr, XP_047298682.1:p.Met4Thr, XP_047298679.1:p.Met165Thr

Select item 14873378644.

rs1487337864 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: Y:347678 (GRCh38)
Y:258413 (GRCh37)
Canonical SPDI:: NC_000024.10:347677:G:A,NC_000024.10:347677:G:C
Gene:: PPP2R3B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0./0 (GnomAD)
C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000024.10:g.347678G>A, NC_000024.10:g.347678G>C, NC_000024.9:g.258413G>A, NC_000024.9:g.258413G>C, NG_013257.1:g.44215C>T, NG_013257.1:g.44215C>G, NM_013239.5:c.526C>T, NM_013239.5:c.526C>G, NM_013239.4:c.526C>T, NM_013239.4:c.526C>G, NC_000023.11:g.347678G>A, NC_000023.11:g.347678G>C, NC_000023.10:g.308413G>A, NC_000023.10:g.308413G>C, NT_187634.1:g.30824G>A, NT_187634.1:g.30824G>C, NT_187667.1:g.20166G>A, NT_187667.1:g.20166G>C, XM_011546177.4:c.526C>T, XM_011546177.4:c.526C>G, XM_011546177.3:c.526C>T, XM_011546177.3:c.526C>G, XM_011546177.2:c.526C>T, XM_011546177.2:c.526C>G, XM_011546177.1:c.526C>T, XM_011546177.1:c.526C>G, XM_011545630.4:c.526C>T, XM_011545630.4:c.526C>G, XM_011545630.3:c.526C>T, XM_011545630.3:c.526C>G, XM_011545630.2:c.526C>T, XM_011545630.2:c.526C>G, XM_011545630.1:c.526C>T, XM_011545630.1:c.526C>G, XM_047442002.1:c.442C>T, XM_047442002.1:c.442C>G, XM_047442006.1:c.442C>T, XM_047442006.1:c.442C>G, XM_047442001.1:c.526C>T, XM_047442001.1:c.526C>G, XM_047442724.1:c.442C>T, XM_047442724.1:c.442C>G, XM_047442728.1:c.442C>T, XM_047442728.1:c.442C>G, XM_047442727.1:c.43C>T, XM_047442727.1:c.43C>G, XM_047442725.1:c.43C>T, XM_047442725.1:c.43C>G, XM_047442726.1:c.43C>T, XM_047442726.1:c.43C>G, XM_047442723.1:c.526C>T, XM_047442723.1:c.526C>G, XM_047442004.1:c.43C>T, XM_047442004.1:c.43C>G, XM_047442005.1:c.43C>T, XM_047442005.1:c.43C>G, XM_047442003.1:c.43C>T, XM_047442003.1:c.43C>G, XM_047442954.1:c.442C>T, XM_047442954.1:c.442C>G, XM_047442960.1:c.442C>T, XM_047442960.1:c.442C>G, XM_047442890.1:c.526C>T, XM_047442890.1:c.526C>G, XM_047442956.1:c.526C>T, XM_047442956.1:c.526C>G, XM_047442958.1:c.43C>T, XM_047442958.1:c.43C>G, XM_047442953.1:c.526C>T, XM_047442953.1:c.526C>G, XM_047442959.1:c.43C>T, XM_047442959.1:c.43C>G, XM_047442957.1:c.526C>T, XM_047442957.1:c.526C>G, XM_047442955.1:c.526C>T, XM_047442955.1:c.526C>G, XM_047442889.1:c.526C>T, XM_047442889.1:c.526C>G, NP_037371.2:p.Leu176Phe, NP_037371.2:p.Leu176Val, XP_011543932.1:p.Leu176Phe, XP_011543932.1:p.Leu176Val, XP_047298680.1:p.Leu148Phe, XP_047298680.1:p.Leu148Val, XP_047298684.1:p.Leu148Phe, XP_047298684.1:p.Leu148Val, XP_047298683.1:p.Leu15Phe, XP_047298683.1:p.Leu15Val, XP_047298681.1:p.Leu15Phe, XP_047298681.1:p.Leu15Val, XP_047298682.1:p.Leu15Phe, XP_047298682.1:p.Leu15Val, XP_047298679.1:p.Leu176Phe, XP_047298679.1:p.Leu176Val

Select item 14864046165.

rs1486404616 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: Y:346183 (GRCh38)
Y:256918 (GRCh37)
Canonical SPDI:: NC_000024.10:346182:G:A
Gene:: PPP2R3B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000024.10:g.346183G>A, NC_000024.9:g.256918G>A, NG_013257.1:g.45710C>T, NM_013239.5:c.870C>T, NM_013239.4:c.870C>T, NC_000023.11:g.346183G>A, NC_000023.10:g.306918G>A, NT_187634.1:g.29329G>A, NT_187667.1:g.18703G>A, XM_011546177.4:c.870C>T, XM_011546177.3:c.870C>T, XM_011546177.2:c.870C>T, XM_011546177.1:c.870C>T, XM_011545630.4:c.870C>T, XM_011545630.3:c.870C>T, XM_011545630.2:c.870C>T, XM_011545630.1:c.870C>T, XM_047442002.1:c.786C>T, XM_047442006.1:c.786C>T, XM_047442001.1:c.870C>T, XM_047442724.1:c.786C>T, XM_047442728.1:c.786C>T, XM_047442727.1:c.387C>T, XM_047442725.1:c.387C>T, XM_047442726.1:c.387C>T, XM_047442723.1:c.870C>T, XM_047442004.1:c.387C>T, XM_047442005.1:c.387C>T, XM_047442003.1:c.387C>T, XM_047442954.1:c.786C>T, XM_047442960.1:c.786C>T, XM_047442890.1:c.870C>T, XM_047442956.1:c.870C>T, XM_047442958.1:c.387C>T, XM_047442953.1:c.870C>T, XM_047442959.1:c.387C>T, XM_047442957.1:c.870C>T, XM_047442955.1:c.870C>T, XM_047442889.1:c.870C>T

Select item 14852289516.

rs1485228951 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: Y:345591 (GRCh38)
Y:256326 (GRCh37)
Canonical SPDI:: NC_000024.10:345590:A:G
Gene:: PPP2R3B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000024.10:g.345591A>G, NC_000024.9:g.256326A>G, NG_013257.1:g.46302T>C, NM_013239.5:c.961T>C, NM_013239.4:c.961T>C, NC_000023.11:g.345591A>G, NC_000023.10:g.306326A>G, NT_187634.1:g.28737A>G, NT_187667.1:g.18104A>G, XM_011546177.4:c.961T>C, XM_011546177.3:c.961T>C, XM_011546177.2:c.961T>C, XM_011546177.1:c.961T>C, XM_011545630.4:c.961T>C, XM_011545630.3:c.961T>C, XM_011545630.2:c.961T>C, XM_011545630.1:c.961T>C, XM_047442002.1:c.877T>C, XM_047442006.1:c.877T>C, XM_047442001.1:c.961T>C, XM_047442724.1:c.877T>C, XM_047442728.1:c.877T>C, XM_047442727.1:c.478T>C, XM_047442725.1:c.478T>C, XM_047442726.1:c.478T>C, XM_047442723.1:c.961T>C, XM_047442004.1:c.478T>C, XM_047442005.1:c.478T>C, XM_047442003.1:c.478T>C, XM_047442954.1:c.877T>C, XM_047442960.1:c.877T>C, XM_047442890.1:c.961T>C, XM_047442956.1:c.961T>C, XM_047442958.1:c.478T>C, XM_047442953.1:c.961T>C, XM_047442959.1:c.478T>C, XM_047442957.1:c.961T>C, XM_047442955.1:c.961T>C, XM_047442889.1:c.961T>C, NP_037371.2:p.Cys321Arg, XP_011543932.1:p.Cys321Arg, XP_047298680.1:p.Cys293Arg, XP_047298684.1:p.Cys293Arg, XP_047298683.1:p.Cys160Arg, XP_047298681.1:p.Cys160Arg, XP_047298682.1:p.Cys160Arg, XP_047298679.1:p.Cys321Arg

Select item 14845719817.

rs1484571981 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: Y:386654 (GRCh38)
Y:297389 (GRCh37)
Canonical SPDI:: NC_000024.10:386653:A:G
Gene:: PPP2R3B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000024.10:g.386654A>G, NC_000024.9:g.297389A>G, NG_013257.1:g.5239T>C, NM_013239.5:c.38T>C, NM_013239.4:c.38T>C, NC_000023.11:g.386654A>G, NC_000023.10:g.347389A>G, NT_187634.1:g.70007A>G, NT_187667.1:g.59147A>G, XM_011546177.4:c.38T>C, XM_011546177.3:c.38T>C, XM_011546177.2:c.38T>C, XM_011546177.1:c.38T>C, XM_011545630.4:c.38T>C, XM_011545630.3:c.38T>C, XM_011545630.2:c.38T>C, XM_011545630.1:c.38T>C, XM_047442005.1:c.-588T>C, XM_047442004.1:c.-524T>C, XM_047442001.1:c.38T>C, XM_047442727.1:c.-588T>C, XM_047442726.1:c.-524T>C, XM_047442723.1:c.38T>C, XM_047442890.1:c.38T>C, XM_047442956.1:c.38T>C, XM_047442953.1:c.38T>C, XM_047442957.1:c.38T>C, XM_047442955.1:c.38T>C, XM_047442889.1:c.38T>C, NP_037371.2:p.Met13Thr, XP_011543932.1:p.Met13Thr, XP_047298679.1:p.Met13Thr

Select item 14831781188.

rs1483178118 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: Y:340841 (GRCh38)
Y:251576 (GRCh37)
Canonical SPDI:: NC_000024.10:340840:G:A
Gene:: PPP2R3B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000024.10:g.340841G>A, NC_000024.9:g.251576G>A, NG_013257.1:g.51052C>T, NM_013239.5:c.1275C>T, NM_013239.4:c.1275C>T, NC_000023.11:g.340841G>A, NC_000023.10:g.301576G>A, NT_187634.1:g.24014G>A, XM_011546177.4:c.1275C>T, XM_011546177.3:c.1275C>T, XM_011546177.2:c.1275C>T, XM_011546177.1:c.1275C>T, XM_011545630.4:c.1275C>T, XM_011545630.3:c.1275C>T, XM_011545630.2:c.1275C>T, XM_011545630.1:c.1275C>T, XM_047442002.1:c.1191C>T, XM_047442006.1:c.1191C>T, XM_047442005.1:c.792C>T, XM_047442003.1:c.792C>T, NM_199326.1:c.78C>T, XM_047442004.1:c.792C>T, XM_047442001.1:c.1275C>T, XM_047442724.1:c.1191C>T, XM_047442728.1:c.1191C>T, XM_047442727.1:c.792C>T, XM_047442725.1:c.792C>T, XM_047442726.1:c.792C>T, XM_047442723.1:c.1275C>T, XM_047442890.1:c.1275C>T, XM_047442889.1:c.1275C>T

Select item 14823843659.

rs1482384365 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: Y:340837 (GRCh38)
Y:251572 (GRCh37)
Canonical SPDI:: NC_000024.10:340836:T:A,NC_000024.10:340836:T:C
Gene:: PPP2R3B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000024.10:g.340837T>A, NC_000024.10:g.340837T>C, NC_000024.9:g.251572T>A, NC_000024.9:g.251572T>C, NG_013257.1:g.51056A>T, NG_013257.1:g.51056A>G, NM_013239.5:c.1279A>T, NM_013239.5:c.1279A>G, NM_013239.4:c.1279A>T, NM_013239.4:c.1279A>G, NC_000023.11:g.340837T>A, NC_000023.11:g.340837T>C, NC_000023.10:g.301572T>A, NC_000023.10:g.301572T>C, NT_187634.1:g.24010T>A, NT_187634.1:g.24010T>C, XM_011546177.4:c.1279A>T, XM_011546177.4:c.1279A>G, XM_011546177.3:c.1279A>T, XM_011546177.3:c.1279A>G, XM_011546177.2:c.1279A>T, XM_011546177.2:c.1279A>G, XM_011546177.1:c.1279A>T, XM_011546177.1:c.1279A>G, XM_011545630.4:c.1279A>T, XM_011545630.4:c.1279A>G, XM_011545630.3:c.1279A>T, XM_011545630.3:c.1279A>G, XM_011545630.2:c.1279A>T, XM_011545630.2:c.1279A>G, XM_011545630.1:c.1279A>T, XM_011545630.1:c.1279A>G, XM_047442002.1:c.1195A>T, XM_047442002.1:c.1195A>G, XM_047442006.1:c.1195A>T, XM_047442006.1:c.1195A>G, XM_047442005.1:c.796A>T, XM_047442005.1:c.796A>G, XM_047442003.1:c.796A>T, XM_047442003.1:c.796A>G, NM_199326.1:c.82A>T, NM_199326.1:c.82A>G, XM_047442004.1:c.796A>T, XM_047442004.1:c.796A>G, XM_047442001.1:c.1279A>T, XM_047442001.1:c.1279A>G, XM_047442724.1:c.1195A>T, XM_047442724.1:c.1195A>G, XM_047442728.1:c.1195A>T, XM_047442728.1:c.1195A>G, XM_047442727.1:c.796A>T, XM_047442727.1:c.796A>G, XM_047442725.1:c.796A>T, XM_047442725.1:c.796A>G, XM_047442726.1:c.796A>T, XM_047442726.1:c.796A>G, XM_047442723.1:c.1279A>T, XM_047442723.1:c.1279A>G, XM_047442890.1:c.1279A>T, XM_047442890.1:c.1279A>G, XM_047442889.1:c.1279A>T, XM_047442889.1:c.1279A>G, NP_037371.2:p.Met427Leu, NP_037371.2:p.Met427Val, XP_011543932.1:p.Met427Leu, XP_011543932.1:p.Met427Val, XP_047298680.1:p.Met399Leu, XP_047298680.1:p.Met399Val, XP_047298684.1:p.Met399Leu, XP_047298684.1:p.Met399Val, XP_047298683.1:p.Met266Leu, XP_047298683.1:p.Met266Val, XP_047298681.1:p.Met266Leu, XP_047298681.1:p.Met266Val, XP_047298682.1:p.Met266Leu, XP_047298682.1:p.Met266Val, XP_047298679.1:p.Met427Leu, XP_047298679.1:p.Met427Val

Select item 148225091110.

rs1482250911 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: Y:340789 (GRCh38)
Y:251524 (GRCh37)
Canonical SPDI:: NC_000024.10:340788:C:A
Gene:: PPP2R3B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000024.10:g.340789C>A, NC_000024.9:g.251524C>A, NG_013257.1:g.51104G>T, NM_013239.5:c.1327G>T, NM_013239.4:c.1327G>T, NC_000023.11:g.340789C>A, NC_000023.10:g.301524C>A, NT_187634.1:g.23962C>A, XM_011546177.4:c.1327G>T, XM_011546177.3:c.1327G>T, XM_011546177.2:c.1327G>T, XM_011546177.1:c.1327G>T, XM_011545630.4:c.1327G>T, XM_011545630.3:c.1327G>T, XM_011545630.2:c.1327G>T, XM_011545630.1:c.1327G>T, XM_047442002.1:c.1243G>T, XM_047442006.1:c.1243G>T, XM_047442005.1:c.844G>T, XM_047442003.1:c.844G>T, NM_199326.1:c.130G>T, XM_047442004.1:c.844G>T, XM_047442001.1:c.1327G>T, XM_047442724.1:c.1243G>T, XM_047442728.1:c.1243G>T, XM_047442727.1:c.844G>T, XM_047442725.1:c.844G>T, XM_047442726.1:c.844G>T, XM_047442723.1:c.1327G>T, XM_047442890.1:c.1327G>T, XM_047442889.1:c.1327G>T, NP_037371.2:p.Asp443Tyr, XP_011543932.1:p.Asp443Tyr, XP_047298680.1:p.Asp415Tyr, XP_047298684.1:p.Asp415Tyr, XP_047298683.1:p.Asp282Tyr, XP_047298681.1:p.Asp282Tyr, XP_047298682.1:p.Asp282Tyr, XP_047298679.1:p.Asp443Tyr

Select item 148173429711.

rs1481734297 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: Y:386617 (GRCh38)
Y:297352 (GRCh37)
Canonical SPDI:: NC_000024.10:386616:C:A
Gene:: PPP2R3B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant
HGVS:: NC_000024.10:g.386617C>A, NC_000024.9:g.297352C>A, NG_013257.1:g.5276G>T, NM_013239.5:c.75G>T, NM_013239.4:c.75G>T, NC_000023.11:g.386617C>A, NC_000023.10:g.347352C>A, NT_187634.1:g.69970C>A, NT_187667.1:g.59110C>A, XM_011546177.4:c.75G>T, XM_011546177.3:c.75G>T, XM_011546177.2:c.75G>T, XM_011546177.1:c.75G>T, XM_011545630.4:c.75G>T, XM_011545630.3:c.75G>T, XM_011545630.2:c.75G>T, XM_011545630.1:c.75G>T, XM_047442005.1:c.-551G>T, XM_047442004.1:c.-487G>T, XM_047442001.1:c.75G>T, XM_047442726.1:c.-487G>T, XM_047442723.1:c.75G>T, XM_047442727.1:c.-551G>T, XM_047442890.1:c.75G>T, XM_047442956.1:c.75G>T, XM_047442953.1:c.75G>T, XM_047442957.1:c.75G>T, XM_047442955.1:c.75G>T, XM_047442889.1:c.75G>T, NP_037371.2:p.Glu25Asp, XP_011543932.1:p.Glu25Asp, XP_047298679.1:p.Glu25Asp

Select item 148173375612.

rs1481733756 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: Y:386501 (GRCh38)
Y:297236 (GRCh37)
Canonical SPDI:: NC_000024.10:386500:G:A,NC_000024.10:386500:G:C
Gene:: PPP2R3B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
C=0.000208/1 (1000Genomes)
HGVS:: NC_000024.10:g.386501G>A, NC_000024.10:g.386501G>C, NC_000024.9:g.297236G>A, NC_000024.9:g.297236G>C, NG_013257.1:g.5392C>T, NG_013257.1:g.5392C>G, NM_013239.5:c.191C>T, NM_013239.5:c.191C>G, NM_013239.4:c.191C>T, NM_013239.4:c.191C>G, NC_000023.11:g.386501G>A, NC_000023.11:g.386501G>C, NC_000023.10:g.347236G>A, NC_000023.10:g.347236G>C, NT_187634.1:g.69854G>A, NT_187634.1:g.69854G>C, NT_187667.1:g.58994G>A, NT_187667.1:g.58994G>C, XM_011546177.4:c.191C>T, XM_011546177.4:c.191C>G, XM_011546177.3:c.191C>T, XM_011546177.3:c.191C>G, XM_011546177.2:c.191C>T, XM_011546177.2:c.191C>G, XM_011546177.1:c.191C>T, XM_011546177.1:c.191C>G, XM_011545630.4:c.191C>T, XM_011545630.4:c.191C>G, XM_011545630.3:c.191C>T, XM_011545630.3:c.191C>G, XM_011545630.2:c.191C>T, XM_011545630.2:c.191C>G, XM_011545630.1:c.191C>T, XM_011545630.1:c.191C>G, XM_047442005.1:c.-435C>T, XM_047442005.1:c.-435C>G, XM_047442004.1:c.-371C>T, XM_047442004.1:c.-371C>G, XM_047442727.1:c.-435C>T, XM_047442727.1:c.-435C>G, XM_047442726.1:c.-371C>T, XM_047442726.1:c.-371C>G, XM_047442723.1:c.191C>T, XM_047442723.1:c.191C>G, XM_047442001.1:c.191C>T, XM_047442001.1:c.191C>G, XM_047442890.1:c.191C>T, XM_047442890.1:c.191C>G, XM_047442956.1:c.191C>T, XM_047442956.1:c.191C>G, XM_047442953.1:c.191C>T, XM_047442953.1:c.191C>G, XM_047442957.1:c.191C>T, XM_047442957.1:c.191C>G, XM_047442955.1:c.191C>T, XM_047442955.1:c.191C>G, XM_047442889.1:c.191C>T, XM_047442889.1:c.191C>G, NP_037371.2:p.Ala64Val, NP_037371.2:p.Ala64Gly, XP_011543932.1:p.Ala64Val, XP_011543932.1:p.Ala64Gly, XP_047298679.1:p.Ala64Val, XP_047298679.1:p.Ala64Gly

Select item 148028273513.

rs1480282735 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTC>- [Show Flanks]
Chromosome:: Y:338657 (GRCh38)
Y:249392 (GRCh37)
Canonical SPDI:: NC_000024.10:338653:CTCCTC:CTC
Gene:: PPP2R3B (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000024.10:g.338654CTC[1], NC_000024.9:g.249389CTC[1], NG_013257.1:g.53234GAG[1], NM_013239.5:c.1522GAG[1], NM_013239.4:c.1522GAG[1], NC_000023.11:g.338654CTC[1], NC_000023.10:g.299389CTC[1], NT_187634.1:g.21850CTC[1], NT_187667.1:g.11476CTC[1], XM_011546177.4:c.1522GAG[1], XM_011546177.3:c.1522GAG[1], XM_011546177.2:c.1522GAG[1], XM_011546177.1:c.1522GAG[1], XM_011545630.4:c.1522GAG[1], XM_011545630.3:c.1522GAG[1], XM_011545630.2:c.1522GAG[1], XM_011545630.1:c.1522GAG[1], XM_047442002.1:c.1438GAG[1], XM_047442006.1:c.1438GAG[1], XM_047442005.1:c.1039GAG[1], XM_047442003.1:c.1039GAG[1], XM_047442004.1:c.1039GAG[1], XM_047442001.1:c.1522GAG[1], NM_199326.1:c.325GAG[1], XM_047442724.1:c.1438GAG[1], XM_047442728.1:c.1438GAG[1], XM_047442727.1:c.1039GAG[1], XM_047442725.1:c.1039GAG[1], XM_047442726.1:c.1039GAG[1], XM_047442723.1:c.1522GAG[1], XM_047442954.1:c.1438GAG[1], XM_047442960.1:c.1438GAG[1], XM_047442890.1:c.1522GAG[1], XM_047442956.1:c.1522GAG[1], XM_047442958.1:c.1039GAG[1], XM_047442953.1:c.1522GAG[1], XM_047442959.1:c.1039GAG[1], XM_047442957.1:c.1522GAG[1], XM_047442955.1:c.1522GAG[1], XM_047442889.1:c.1522GAG[1], NP_037371.2:p.Glu509del, XP_011543932.1:p.Glu509del, XP_047298680.1:p.Glu481del, XP_047298684.1:p.Glu481del, XP_047298683.1:p.Glu348del, XP_047298681.1:p.Glu348del, XP_047298682.1:p.Glu348del, XP_047298679.1:p.Glu509del

Select item 148010071914.

rs1480100719 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: Y:346209 (GRCh38)
Y:256944 (GRCh37)
Canonical SPDI:: NC_000024.10:346208:T:C
Gene:: PPP2R3B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000024.10:g.346209T>C, NC_000024.9:g.256944T>C, NG_013257.1:g.45684A>G, NM_013239.5:c.844A>G, NM_013239.4:c.844A>G, NC_000023.11:g.346209T>C, NC_000023.10:g.306944T>C, NT_187634.1:g.29355T>C, NT_187667.1:g.18729T>C, XM_011546177.4:c.844A>G, XM_011546177.3:c.844A>G, XM_011546177.2:c.844A>G, XM_011546177.1:c.844A>G, XM_011545630.4:c.844A>G, XM_011545630.3:c.844A>G, XM_011545630.2:c.844A>G, XM_011545630.1:c.844A>G, XM_047442002.1:c.760A>G, XM_047442006.1:c.760A>G, XM_047442001.1:c.844A>G, XM_047442724.1:c.760A>G, XM_047442728.1:c.760A>G, XM_047442727.1:c.361A>G, XM_047442725.1:c.361A>G, XM_047442726.1:c.361A>G, XM_047442723.1:c.844A>G, XM_047442004.1:c.361A>G, XM_047442005.1:c.361A>G, XM_047442003.1:c.361A>G, XM_047442954.1:c.760A>G, XM_047442960.1:c.760A>G, XM_047442890.1:c.844A>G, XM_047442956.1:c.844A>G, XM_047442958.1:c.361A>G, XM_047442953.1:c.844A>G, XM_047442959.1:c.361A>G, XM_047442957.1:c.844A>G, XM_047442955.1:c.844A>G, XM_047442889.1:c.844A>G, NP_037371.2:p.Thr282Ala, XP_011543932.1:p.Thr282Ala, XP_047298680.1:p.Thr254Ala, XP_047298684.1:p.Thr254Ala, XP_047298683.1:p.Thr121Ala, XP_047298681.1:p.Thr121Ala, XP_047298682.1:p.Thr121Ala, XP_047298679.1:p.Thr282Ala

Select item 147960180715.

rs1479601807 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: Y:338824 (GRCh38)
Y:249559 (GRCh37)
Canonical SPDI:: NC_000024.10:338823:T:C
Gene:: PPP2R3B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
HGVS:: NC_000024.10:g.338824T>C, NC_000024.9:g.249559T>C, NG_013257.1:g.53069A>G, NM_013239.5:c.1424A>G, NM_013239.4:c.1424A>G, NC_000023.11:g.338824T>C, NC_000023.10:g.299559T>C, NT_187634.1:g.22020T>C, NT_187667.1:g.11646T>C, XM_011546177.4:c.1424A>G, XM_011546177.3:c.1424A>G, XM_011546177.2:c.1424A>G, XM_011546177.1:c.1424A>G, XM_011545630.4:c.1424A>G, XM_011545630.3:c.1424A>G, XM_011545630.2:c.1424A>G, XM_011545630.1:c.1424A>G, XM_047442002.1:c.1340A>G, XM_047442006.1:c.1340A>G, XM_047442005.1:c.941A>G, XM_047442003.1:c.941A>G, XM_047442004.1:c.941A>G, XM_047442001.1:c.1424A>G, NM_199326.1:c.227A>G, XM_047442724.1:c.1340A>G, XM_047442728.1:c.1340A>G, XM_047442727.1:c.941A>G, XM_047442725.1:c.941A>G, XM_047442726.1:c.941A>G, XM_047442723.1:c.1424A>G, XM_047442954.1:c.1340A>G, XM_047442960.1:c.1340A>G, XM_047442890.1:c.1424A>G, XM_047442956.1:c.1424A>G, XM_047442958.1:c.941A>G, XM_047442953.1:c.1424A>G, XM_047442959.1:c.941A>G, XM_047442957.1:c.1424A>G, XM_047442955.1:c.1424A>G, XM_047442889.1:c.1424A>G, NP_037371.2:p.Glu475Gly, XP_011543932.1:p.Glu475Gly, XP_047298680.1:p.Glu447Gly, XP_047298684.1:p.Glu447Gly, XP_047298683.1:p.Glu314Gly, XP_047298681.1:p.Glu314Gly, XP_047298682.1:p.Glu314Gly, XP_047298679.1:p.Glu475Gly

Select item 147909090216.

rs1479090902 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: Y:347633 (GRCh38)
Y:258368 (GRCh37)
Canonical SPDI:: NC_000024.10:347632:T:C
Gene:: PPP2R3B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/2 (GnomAD_exomes)
C=0.000019/5 (TOPMED)
HGVS:: NC_000024.10:g.347633T>C, NC_000024.9:g.258368T>C, NG_013257.1:g.44260A>G, NM_013239.5:c.571A>G, NM_013239.4:c.571A>G, NC_000023.11:g.347633T>C, NC_000023.10:g.308368T>C, NT_187634.1:g.30779T>C, NT_187667.1:g.20121T>C, XM_011546177.4:c.571A>G, XM_011546177.3:c.571A>G, XM_011546177.2:c.571A>G, XM_011546177.1:c.571A>G, XM_011545630.4:c.571A>G, XM_011545630.3:c.571A>G, XM_011545630.2:c.571A>G, XM_011545630.1:c.571A>G, XM_047442002.1:c.487A>G, XM_047442006.1:c.487A>G, XM_047442001.1:c.571A>G, XM_047442724.1:c.487A>G, XM_047442728.1:c.487A>G, XM_047442727.1:c.88A>G, XM_047442725.1:c.88A>G, XM_047442726.1:c.88A>G, XM_047442723.1:c.571A>G, XM_047442004.1:c.88A>G, XM_047442005.1:c.88A>G, XM_047442003.1:c.88A>G, XM_047442954.1:c.487A>G, XM_047442960.1:c.487A>G, XM_047442890.1:c.571A>G, XM_047442956.1:c.571A>G, XM_047442958.1:c.88A>G, XM_047442953.1:c.571A>G, XM_047442959.1:c.88A>G, XM_047442957.1:c.571A>G, XM_047442955.1:c.571A>G, XM_047442889.1:c.571A>G, NP_037371.2:p.Thr191Ala, XP_011543932.1:p.Thr191Ala, XP_047298680.1:p.Thr163Ala, XP_047298684.1:p.Thr163Ala, XP_047298683.1:p.Thr30Ala, XP_047298681.1:p.Thr30Ala, XP_047298682.1:p.Thr30Ala, XP_047298679.1:p.Thr191Ala

Select item 147879645817.

rs1478796458 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: Y:361437 (GRCh38)
Y:272172 (GRCh37)
Canonical SPDI:: NC_000024.10:361436:C:A,NC_000024.10:361436:C:T
Gene:: PPP2R3B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_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_000024.10:g.361437C>A, NC_000024.10:g.361437C>T, NC_000024.9:g.272172C>A, NC_000024.9:g.272172C>T, NG_013257.1:g.30456G>T, NG_013257.1:g.30456G>A, NM_013239.5:c.478G>T, NM_013239.5:c.478G>A, NM_013239.4:c.478G>T, NM_013239.4:c.478G>A, NC_000023.11:g.361437C>A, NC_000023.11:g.361437C>T, NC_000023.10:g.322172C>A, NC_000023.10:g.322172C>T, NT_187634.1:g.44790C>A, NT_187634.1:g.44790C>T, NT_187667.1:g.33930C>A, NT_187667.1:g.33930C>T, XM_011546177.4:c.478G>T, XM_011546177.4:c.478G>A, XM_011546177.3:c.478G>T, XM_011546177.3:c.478G>A, XM_011546177.2:c.478G>T, XM_011546177.2:c.478G>A, XM_011546177.1:c.478G>T, XM_011546177.1:c.478G>A, XM_011545630.4:c.478G>T, XM_011545630.4:c.478G>A, XM_011545630.3:c.478G>T, XM_011545630.3:c.478G>A, XM_011545630.2:c.478G>T, XM_011545630.2:c.478G>A, XM_011545630.1:c.478G>T, XM_011545630.1:c.478G>A, XM_047442002.1:c.394G>T, XM_047442002.1:c.394G>A, XM_047442006.1:c.394G>T, XM_047442006.1:c.394G>A, XM_047442001.1:c.478G>T, XM_047442001.1:c.478G>A, XM_047442724.1:c.394G>T, XM_047442724.1:c.394G>A, XM_047442728.1:c.394G>T, XM_047442728.1:c.394G>A, XM_047442727.1:c.-6G>T, XM_047442727.1:c.-6G>A, XM_047442725.1:c.-6G>T, XM_047442725.1:c.-6G>A, XM_047442726.1:c.-6G>T, XM_047442726.1:c.-6G>A, XM_047442723.1:c.478G>T, XM_047442723.1:c.478G>A, XM_047442004.1:c.-6G>T, XM_047442004.1:c.-6G>A, XM_047442005.1:c.-6G>T, XM_047442005.1:c.-6G>A, XM_047442003.1:c.-6G>T, XM_047442003.1:c.-6G>A, XM_047442954.1:c.394G>T, XM_047442954.1:c.394G>A, XM_047442960.1:c.394G>T, XM_047442960.1:c.394G>A, XM_047442890.1:c.478G>T, XM_047442890.1:c.478G>A, XM_047442956.1:c.478G>T, XM_047442956.1:c.478G>A, XM_047442958.1:c.-6G>T, XM_047442958.1:c.-6G>A, XM_047442953.1:c.478G>T, XM_047442953.1:c.478G>A, XM_047442959.1:c.-6G>T, XM_047442959.1:c.-6G>A, XM_047442957.1:c.478G>T, XM_047442957.1:c.478G>A, XM_047442955.1:c.478G>T, XM_047442955.1:c.478G>A, XM_047442889.1:c.478G>T, XM_047442889.1:c.478G>A, NP_037371.2:p.Ala160Ser, NP_037371.2:p.Ala160Thr, XP_011543932.1:p.Ala160Ser, XP_011543932.1:p.Ala160Thr, XP_047298680.1:p.Ala132Ser, XP_047298680.1:p.Ala132Thr, XP_047298684.1:p.Ala132Ser, XP_047298684.1:p.Ala132Thr, XP_047298679.1:p.Ala160Ser, XP_047298679.1:p.Ala160Thr

Select item 147832441518.

rs1478324415 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: Y:386443 (GRCh38)
Y:297178 (GRCh37)
Canonical SPDI:: NC_000024.10:386442:C:A
Gene:: PPP2R3B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000024.10:g.386443C>A, NC_000024.9:g.297178C>A, NG_013257.1:g.5450G>T, NM_013239.5:c.249G>T, NM_013239.4:c.249G>T, NC_000023.11:g.386443C>A, NC_000023.10:g.347178C>A, NT_187634.1:g.69796C>A, NT_187667.1:g.58936C>A, XM_011546177.4:c.249G>T, XM_011546177.3:c.249G>T, XM_011546177.2:c.249G>T, XM_011546177.1:c.249G>T, XM_011545630.4:c.249G>T, XM_011545630.3:c.249G>T, XM_011545630.2:c.249G>T, XM_011545630.1:c.249G>T, XM_047442005.1:c.-377G>T, XM_047442004.1:c.-313G>T, XM_047442727.1:c.-377G>T, XM_047442726.1:c.-313G>T, XM_047442723.1:c.249G>T, XM_047442001.1:c.249G>T, XM_047442890.1:c.249G>T, XM_047442956.1:c.249G>T, XM_047442953.1:c.249G>T, XM_047442957.1:c.249G>T, XM_047442955.1:c.249G>T, XM_047442889.1:c.249G>T

Select item 147554026719.

rs1475540267 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: Y:347244 (GRCh38)
Y:257979 (GRCh37)
Canonical SPDI:: NC_000024.10:347243:G:A
Gene:: PPP2R3B (Varview)
Functional Consequence:: 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_000024.10:g.347244G>A, NC_000024.9:g.257979G>A, NG_013257.1:g.44649C>T, NM_013239.5:c.707C>T, NM_013239.4:c.707C>T, NC_000023.11:g.347244G>A, NC_000023.10:g.307979G>A, NT_187634.1:g.30390G>A, NT_187667.1:g.19732G>A, XM_011546177.4:c.707C>T, XM_011546177.3:c.707C>T, XM_011546177.2:c.707C>T, XM_011546177.1:c.707C>T, XM_011545630.4:c.707C>T, XM_011545630.3:c.707C>T, XM_011545630.2:c.707C>T, XM_011545630.1:c.707C>T, XM_047442002.1:c.623C>T, XM_047442006.1:c.623C>T, XM_047442001.1:c.707C>T, XM_047442724.1:c.623C>T, XM_047442728.1:c.623C>T, XM_047442727.1:c.224C>T, XM_047442725.1:c.224C>T, XM_047442726.1:c.224C>T, XM_047442723.1:c.707C>T, XM_047442004.1:c.224C>T, XM_047442005.1:c.224C>T, XM_047442003.1:c.224C>T, XM_047442954.1:c.623C>T, XM_047442960.1:c.623C>T, XM_047442890.1:c.707C>T, XM_047442956.1:c.707C>T, XM_047442958.1:c.224C>T, XM_047442953.1:c.707C>T, XM_047442959.1:c.224C>T, XM_047442957.1:c.707C>T, XM_047442955.1:c.707C>T, XM_047442889.1:c.707C>T, NP_037371.2:p.Pro236Leu, XP_011543932.1:p.Pro236Leu, XP_047298680.1:p.Pro208Leu, XP_047298684.1:p.Pro208Leu, XP_047298683.1:p.Pro75Leu, XP_047298681.1:p.Pro75Leu, XP_047298682.1:p.Pro75Leu, XP_047298679.1:p.Pro236Leu

Select item 147463284020.

rs1474632840 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: Y:386679 (GRCh38)
Y:297414 (GRCh37)
Canonical SPDI:: NC_000024.10:386678:T:C
Gene:: PPP2R3B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant
HGVS:: NC_000024.10:g.386679T>C, NC_000024.9:g.297414T>C, NG_013257.1:g.5214A>G, NM_013239.5:c.13A>G, NM_013239.4:c.13A>G, NC_000023.11:g.386679T>C, NC_000023.10:g.347414T>C, NT_187634.1:g.70032T>C, NT_187667.1:g.59172T>C, XM_011546177.4:c.13A>G, XM_011546177.3:c.13A>G, XM_011546177.2:c.13A>G, XM_011546177.1:c.13A>G, XM_011545630.4:c.13A>G, XM_011545630.3:c.13A>G, XM_011545630.2:c.13A>G, XM_011545630.1:c.13A>G, XM_047442005.1:c.-613A>G, XM_047442004.1:c.-549A>G, XM_047442727.1:c.-613A>G, XM_047442726.1:c.-549A>G, XM_047442723.1:c.13A>G, XM_047442001.1:c.13A>G, XM_047442890.1:c.13A>G, XM_047442956.1:c.13A>G, XM_047442953.1:c.13A>G, XM_047442957.1:c.13A>G, XM_047442955.1:c.13A>G, XM_047442889.1:c.13A>G, NP_037371.2:p.Lys5Glu, XP_011543932.1:p.Lys5Glu, XP_047298679.1:p.Lys5Glu

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