SNP Links for Protein (Select 13376253) - SNP

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Links from Protein

Items: 1 to 20 of 193

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Select item 14906449191.

rs1490644919 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:30345224 (GRCh38)
6:30313001 (GRCh37)
Canonical SPDI:: NC_000006.12:30345223:A:C
Gene:: RPP21 (Varview), TRIM39-RPP21 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.30345224A>C, NC_000006.11:g.30313001A>C, NT_113891.3:g.1824905A>C, NT_113891.2:g.1825011A>C, NT_167248.2:g.1600306A>C, NT_167248.1:g.1605902A>C, NT_167245.2:g.1601070A>C, NT_167245.1:g.1606655A>C, NT_167249.2:g.1643681A>C, NT_167249.1:g.1642979A>C, NT_167246.2:g.1655458A>C, NT_167246.1:g.1661078A>C, NT_167244.2:g.1674720A>C, NT_167244.1:g.1624636A>C, NM_024839.4:c.53A>C, NM_024839.3:c.53A>C, NM_024839.2:c.53A>C, NM_001199120.3:c.53A>C, NM_001199120.2:c.53A>C, NM_001199120.1:c.53A>C, NM_001199121.3:c.53A>C, NM_001199121.2:c.53A>C, NM_001199121.1:c.53A>C, NP_079115.1:p.Tyr18Ser, NP_001186049.1:p.Tyr18Ser, NP_001186050.1:p.Tyr18Ser

Select item 14899393132.

rs1489939313 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:30345191 (GRCh38)
6:30312968 (GRCh37)
Canonical SPDI:: NC_000006.12:30345190:A:G
Gene:: RPP21 (Varview), TRIM39-RPP21 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_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_000006.12:g.30345191A>G, NC_000006.11:g.30312968A>G, NT_113891.3:g.1824872A>G, NT_113891.2:g.1824978A>G, NT_167248.2:g.1600273A>G, NT_167248.1:g.1605869A>G, NT_167245.2:g.1601037A>G, NT_167245.1:g.1606622A>G, NT_167249.2:g.1643648A>G, NT_167249.1:g.1642946A>G, NT_167246.2:g.1655425A>G, NT_167246.1:g.1661045A>G, NT_167244.2:g.1674687A>G, NT_167244.1:g.1624603A>G, NM_024839.4:c.20A>G, NM_024839.3:c.20A>G, NM_024839.2:c.20A>G, NM_001199120.3:c.20A>G, NM_001199120.2:c.20A>G, NM_001199120.1:c.20A>G, NM_001199121.3:c.20A>G, NM_001199121.2:c.20A>G, NM_001199121.1:c.20A>G, NP_079115.1:p.Asp7Gly, NP_001186049.1:p.Asp7Gly, NP_001186050.1:p.Asp7Gly

Select item 14849241743.

rs1484924174 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:30346435 (GRCh38)
6:30314212 (GRCh37)
Canonical SPDI:: NC_000006.12:30346434:G:T
Gene:: RPP21 (Varview), TRIM39-RPP21 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30346435G>T, NC_000006.11:g.30314212G>T, NT_113891.3:g.1826116G>T, NT_113891.2:g.1826222G>T, NT_167248.2:g.1601517G>T, NT_167248.1:g.1607113G>T, NT_167245.2:g.1602281G>T, NT_167245.1:g.1607866G>T, NT_167249.2:g.1644892G>T, NT_167249.1:g.1644190G>T, NT_167246.2:g.1656669G>T, NT_167246.1:g.1662289G>T, NT_167244.2:g.1675931G>T, NT_167244.1:g.1625847G>T, NM_024839.4:c.245G>T, NM_024839.3:c.245G>T, NM_024839.2:c.245G>T, NM_001199120.3:c.269G>T, NM_001199120.2:c.269G>T, NM_001199120.1:c.269G>T, NM_001199121.3:c.245G>T, NM_001199121.2:c.245G>T, NM_001199121.1:c.245G>T, NM_001199119.1:c.1292G>T, NP_079115.1:p.Cys82Phe, NP_001186049.1:p.Cys90Phe, NP_001186050.1:p.Cys82Phe, NP_001186048.1:p.Cys431Phe

Select item 14819598074.

rs1481959807 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:30345528 (GRCh38)
6:30313305 (GRCh37)
Canonical SPDI:: NC_000006.12:30345527:T:A
Gene:: RPP21 (Varview), TRIM39-RPP21 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000006.12:g.30345528T>A, NC_000006.11:g.30313305T>A, NT_113891.3:g.1825209T>A, NT_113891.2:g.1825315T>A, NT_167248.2:g.1600610T>A, NT_167248.1:g.1606206T>A, NT_167245.2:g.1601374T>A, NT_167245.1:g.1606959T>A, NT_167249.2:g.1643985T>A, NT_167249.1:g.1643283T>A, NT_167246.2:g.1655762T>A, NT_167246.1:g.1661382T>A, NT_167244.2:g.1675024T>A, NT_167244.1:g.1624940T>A, NM_024839.4:c.196T>A, NM_024839.3:c.196T>A, NM_024839.2:c.196T>A, NM_001199120.3:c.220T>A, NM_001199120.2:c.220T>A, NM_001199120.1:c.220T>A, NM_001199121.3:c.196T>A, NM_001199121.2:c.196T>A, NM_001199121.1:c.196T>A, NM_001199119.1:c.1243T>A, NP_079115.1:p.Ser66Thr, NP_001186049.1:p.Ser74Thr, NP_001186050.1:p.Ser66Thr, NP_001186048.1:p.Ser415Thr

Select item 14815596065.

rs1481559606 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:30346436 (GRCh38)
6:30314213 (GRCh37)
Canonical SPDI:: NC_000006.12:30346435:C:T
Gene:: RPP21 (Varview), TRIM39-RPP21 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.30346436C>T, NC_000006.11:g.30314213C>T, NT_113891.3:g.1826117C>T, NT_113891.2:g.1826223C>T, NT_167248.2:g.1601518C>T, NT_167248.1:g.1607114C>T, NT_167245.2:g.1602282C>T, NT_167245.1:g.1607867C>T, NT_167249.2:g.1644893C>T, NT_167249.1:g.1644191C>T, NT_167246.2:g.1656670C>T, NT_167246.1:g.1662290C>T, NT_167244.2:g.1675932C>T, NT_167244.1:g.1625848C>T, NM_024839.4:c.246C>T, NM_024839.3:c.246C>T, NM_024839.2:c.246C>T, NM_001199120.3:c.270C>T, NM_001199120.2:c.270C>T, NM_001199120.1:c.270C>T, NM_001199121.3:c.246C>T, NM_001199121.2:c.246C>T, NM_001199121.1:c.246C>T, NM_001199119.1:c.1293C>T

Select item 14705689276.

rs1470568927 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:30345496 (GRCh38)
6:30313273 (GRCh37)
Canonical SPDI:: NC_000006.12:30345495:C:A,NC_000006.12:30345495:C:T
Gene:: RPP21 (Varview), TRIM39-RPP21 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.30345496C>A, NC_000006.12:g.30345496C>T, NC_000006.11:g.30313273C>A, NC_000006.11:g.30313273C>T, NT_113891.3:g.1825177C>A, NT_113891.3:g.1825177C>T, NT_113891.2:g.1825283C>A, NT_113891.2:g.1825283C>T, NT_167248.2:g.1600578C>A, NT_167248.2:g.1600578C>T, NT_167248.1:g.1606174C>A, NT_167248.1:g.1606174C>T, NT_167245.2:g.1601342C>A, NT_167245.2:g.1601342C>T, NT_167245.1:g.1606927C>A, NT_167245.1:g.1606927C>T, NT_167249.2:g.1643953C>A, NT_167249.2:g.1643953C>T, NT_167249.1:g.1643251C>A, NT_167249.1:g.1643251C>T, NT_167246.2:g.1655730C>A, NT_167246.2:g.1655730C>T, NT_167246.1:g.1661350C>A, NT_167246.1:g.1661350C>T, NT_167244.2:g.1674992C>A, NT_167244.2:g.1674992C>T, NT_167244.1:g.1624908C>A, NT_167244.1:g.1624908C>T, NM_024839.4:c.164C>A, NM_024839.4:c.164C>T, NM_024839.3:c.164C>A, NM_024839.3:c.164C>T, NM_024839.2:c.164C>A, NM_024839.2:c.164C>T, NM_001199120.3:c.188C>A, NM_001199120.3:c.188C>T, NM_001199120.2:c.188C>A, NM_001199120.2:c.188C>T, NM_001199120.1:c.188C>A, NM_001199120.1:c.188C>T, NM_001199121.3:c.164C>A, NM_001199121.3:c.164C>T, NM_001199121.2:c.164C>A, NM_001199121.2:c.164C>T, NM_001199121.1:c.164C>A, NM_001199121.1:c.164C>T, NM_001199119.1:c.1211C>A, NM_001199119.1:c.1211C>T, NP_079115.1:p.Pro55His, NP_079115.1:p.Pro55Leu, NP_001186049.1:p.Pro63His, NP_001186049.1:p.Pro63Leu, NP_001186050.1:p.Pro55His, NP_001186050.1:p.Pro55Leu, NP_001186048.1:p.Pro404His, NP_001186048.1:p.Pro404Leu

Select item 14631629227.

rs1463162922 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:30345334 (GRCh38)
6:30313111 (GRCh37)
Canonical SPDI:: NC_000006.12:30345333:C:T
Gene:: RPP21 (Varview), TRIM39-RPP21 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.30345334C>T, NC_000006.11:g.30313111C>T, NT_113891.3:g.1825015C>T, NT_113891.2:g.1825121C>T, NT_167248.2:g.1600416C>T, NT_167248.1:g.1606012C>T, NT_167245.2:g.1601180C>T, NT_167245.1:g.1606765C>T, NT_167249.2:g.1643791C>T, NT_167249.1:g.1643089C>T, NT_167246.2:g.1655568C>T, NT_167246.1:g.1661188C>T, NT_167244.2:g.1674830C>T, NT_167244.1:g.1624746C>T, NM_024839.4:c.94C>T, NM_024839.3:c.94C>T, NM_024839.2:c.94C>T, NM_001199120.3:c.94C>T, NM_001199120.2:c.94C>T, NM_001199120.1:c.94C>T, NM_001199121.3:c.94C>T, NM_001199121.2:c.94C>T, NM_001199121.1:c.94C>T, NM_001199119.1:c.1141C>T, NP_079115.1:p.Gln32Ter, NP_001186049.1:p.Gln32Ter, NP_001186050.1:p.Gln32Ter, NP_001186048.1:p.Gln381Ter

Select item 14526589158.

rs1452658915 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:30345573 (GRCh38)
6:30313350 (GRCh37)
Canonical SPDI:: NC_000006.12:30345572:C:T
Gene:: RPP21 (Varview), TRIM39-RPP21 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000012/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30345573C>T, NC_000006.11:g.30313350C>T, NT_113891.3:g.1825254C>T, NT_113891.2:g.1825360C>T, NT_167248.2:g.1600655C>T, NT_167248.1:g.1606251C>T, NT_167245.2:g.1601419C>T, NT_167245.1:g.1607004C>T, NT_167249.2:g.1644030C>T, NT_167249.1:g.1643328C>T, NT_167246.2:g.1655807C>T, NT_167246.1:g.1661427C>T, NT_167244.2:g.1675069C>T, NT_167244.1:g.1624985C>T, NM_024839.4:c.241C>T, NM_024839.3:c.241C>T, NM_024839.2:c.241C>T, NM_001199120.3:c.265C>T, NM_001199120.2:c.265C>T, NM_001199120.1:c.265C>T, NM_001199121.3:c.241C>T, NM_001199121.2:c.241C>T, NM_001199121.1:c.241C>T, NM_001199119.1:c.1288C>T, NP_079115.1:p.Arg81Cys, NP_001186049.1:p.Arg89Cys, NP_001186050.1:p.Arg81Cys, NP_001186048.1:p.Arg430Cys

Select item 14459142059.

rs1445914205 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAA [Show Flanks]
Chromosome:: 6:30346794 (GRCh38)
6:30314572 (GRCh37)
Canonical SPDI:: NC_000006.12:30346794::AAA
Gene:: RPP21 (Varview), TRIM39-RPP21 (Varview)
Functional Consequence:: 3_prime_UTR_variant,inframe_insertion,coding_sequence_variant
Validated:: by frequency
MAF:: AAA=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30346794_30346795insAAA, NC_000006.11:g.30314571_30314572insAAA, NT_113891.3:g.1826475_1826476insAAA, NT_113891.2:g.1826581_1826582insAAA, NT_167248.2:g.1601876_1601877insAAA, NT_167248.1:g.1607472_1607473insAAA, NT_167245.2:g.1602640_1602641insAAA, NT_167245.1:g.1608225_1608226insAAA, NT_167249.2:g.1645251_1645252insAAA, NT_167249.1:g.1644549_1644550insAAA, NT_167246.2:g.1657028_1657029insAAA, NT_167246.1:g.1662648_1662649insAAA, NT_167244.2:g.1676290_1676291insAAA, NT_167244.1:g.1626206_1626207insAAA, NM_024839.4:c.449_450insAAA, NM_024839.3:c.449_450insAAA, NM_024839.2:c.449_450insAAA, NM_001199120.3:c.473_474insAAA, NM_001199120.2:c.473_474insAAA, NM_001199120.1:c.473_474insAAA, NM_001199121.3:c.*21_*22insAAA, NM_001199121.2:c.*21_*22insAAA, NM_001199121.1:c.*21_*22insAAA, NM_001199119.1:c.1496_1497insAAA, NP_079115.1:p.Ser151_Ser152insAsn, NP_001186049.1:p.Ser159_Ser160insAsn, NP_001186048.1:p.Ser500_Ser501insAsn

Select item 144102356610.

rs1441023566 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:30345373 (GRCh38)
6:30313150 (GRCh37)
Canonical SPDI:: NC_000006.12:30345372:A:G
Gene:: RPP21 (Varview), TRIM39-RPP21 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.30345373A>G, NC_000006.11:g.30313150A>G, NT_113891.3:g.1825054A>G, NT_113891.2:g.1825160A>G, NT_167248.2:g.1600455A>G, NT_167248.1:g.1606051A>G, NT_167245.2:g.1601219A>G, NT_167245.1:g.1606804A>G, NT_167249.2:g.1643830A>G, NT_167249.1:g.1643128A>G, NT_167246.2:g.1655607A>G, NT_167246.1:g.1661227A>G, NT_167244.2:g.1674869A>G, NT_167244.1:g.1624785A>G, NM_024839.4:c.133A>G, NM_024839.3:c.133A>G, NM_024839.2:c.133A>G, NM_001199120.3:c.133A>G, NM_001199120.2:c.133A>G, NM_001199120.1:c.133A>G, NM_001199121.3:c.133A>G, NM_001199121.2:c.133A>G, NM_001199121.1:c.133A>G, NM_001199119.1:c.1180A>G, NP_079115.1:p.Ile45Val, NP_001186049.1:p.Ile45Val, NP_001186050.1:p.Ile45Val, NP_001186048.1:p.Ile394Val

Select item 143013244311.

rs1430132443 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:30345210 (GRCh38)
6:30312987 (GRCh37)
Canonical SPDI:: NC_000006.12:30345209:G:A
Gene:: RPP21 (Varview), TRIM39-RPP21 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.30345210G>A, NC_000006.11:g.30312987G>A, NT_113891.3:g.1824891G>A, NT_113891.2:g.1824997G>A, NT_167248.2:g.1600292G>A, NT_167248.1:g.1605888G>A, NT_167245.2:g.1601056G>A, NT_167245.1:g.1606641G>A, NT_167249.2:g.1643667G>A, NT_167249.1:g.1642965G>A, NT_167246.2:g.1655444G>A, NT_167246.1:g.1661064G>A, NT_167244.2:g.1674706G>A, NT_167244.1:g.1624622G>A, NM_024839.4:c.39G>A, NM_024839.3:c.39G>A, NM_024839.2:c.39G>A, NM_001199120.3:c.39G>A, NM_001199120.2:c.39G>A, NM_001199120.1:c.39G>A, NM_001199121.3:c.39G>A, NM_001199121.2:c.39G>A, NM_001199121.1:c.39G>A

Select item 142909261912.

rs1429092619 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:30346791 (GRCh38)
6:30314568 (GRCh37)
Canonical SPDI:: NC_000006.12:30346790:A:G
Gene:: RPP21 (Varview), TRIM39-RPP21 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.30346791A>G, NC_000006.11:g.30314568A>G, NT_113891.3:g.1826472A>G, NT_113891.2:g.1826578A>G, NT_167248.2:g.1601873A>G, NT_167248.1:g.1607469A>G, NT_167245.2:g.1602637A>G, NT_167245.1:g.1608222A>G, NT_167249.2:g.1645248A>G, NT_167249.1:g.1644546A>G, NT_167246.2:g.1657025A>G, NT_167246.1:g.1662645A>G, NT_167244.2:g.1676287A>G, NT_167244.1:g.1626203A>G, NM_024839.4:c.446A>G, NM_024839.3:c.446A>G, NM_024839.2:c.446A>G, NM_001199120.3:c.470A>G, NM_001199120.2:c.470A>G, NM_001199120.1:c.470A>G, NM_001199121.3:c.*18A>G, NM_001199121.2:c.*18A>G, NM_001199121.1:c.*18A>G, NM_001199119.1:c.1493A>G, NP_079115.1:p.Gln149Arg, NP_001186049.1:p.Gln157Arg, NP_001186048.1:p.Gln498Arg

Select item 142779902913.

rs1427799029 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:30346782 (GRCh38)
6:30314559 (GRCh37)
Canonical SPDI:: NC_000006.12:30346781:T:G
Gene:: RPP21 (Varview), TRIM39-RPP21 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_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_000006.12:g.30346782T>G, NC_000006.11:g.30314559T>G, NT_113891.3:g.1826463T>G, NT_113891.2:g.1826569T>G, NT_167248.2:g.1601864T>G, NT_167248.1:g.1607460T>G, NT_167245.2:g.1602628T>G, NT_167245.1:g.1608213T>G, NT_167249.2:g.1645239T>G, NT_167249.1:g.1644537T>G, NT_167246.2:g.1657016T>G, NT_167246.1:g.1662636T>G, NT_167244.2:g.1676278T>G, NT_167244.1:g.1626194T>G, NM_024839.4:c.437T>G, NM_024839.3:c.437T>G, NM_024839.2:c.437T>G, NM_001199120.3:c.461T>G, NM_001199120.2:c.461T>G, NM_001199120.1:c.461T>G, NM_001199121.3:c.*9T>G, NM_001199121.2:c.*9T>G, NM_001199121.1:c.*9T>G, NM_001199119.1:c.1484T>G, NP_079115.1:p.Met146Arg, NP_001186049.1:p.Met154Arg, NP_001186048.1:p.Met495Arg

Select item 142716241414.

rs1427162414 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:30345508 (GRCh38)
6:30313285 (GRCh37)
Canonical SPDI:: NC_000006.12:30345507:G:A
Gene:: RPP21 (Varview), TRIM39-RPP21 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by cluster
HGVS:: NC_000006.12:g.30345508G>A, NC_000006.11:g.30313285G>A, NT_113891.3:g.1825189G>A, NT_113891.2:g.1825295G>A, NT_167248.2:g.1600590G>A, NT_167248.1:g.1606186G>A, NT_167245.2:g.1601354G>A, NT_167245.1:g.1606939G>A, NT_167249.2:g.1643965G>A, NT_167249.1:g.1643263G>A, NT_167246.2:g.1655742G>A, NT_167246.1:g.1661362G>A, NT_167244.2:g.1675004G>A, NT_167244.1:g.1624920G>A, NM_024839.4:c.176G>A, NM_024839.3:c.176G>A, NM_024839.2:c.176G>A, NM_001199120.3:c.200G>A, NM_001199120.2:c.200G>A, NM_001199120.1:c.200G>A, NM_001199121.3:c.176G>A, NM_001199121.2:c.176G>A, NM_001199121.1:c.176G>A, NM_001199119.1:c.1223G>A, NP_079115.1:p.Arg59Lys, NP_001186049.1:p.Arg67Lys, NP_001186050.1:p.Arg59Lys, NP_001186048.1:p.Arg408Lys

Select item 142150405115.

rs1421504051 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:30345328 (GRCh38)
6:30313105 (GRCh37)
Canonical SPDI:: NC_000006.12:30345327:G:A
Gene:: RPP21 (Varview), TRIM39-RPP21 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.30345328G>A, NC_000006.11:g.30313105G>A, NT_113891.3:g.1825009G>A, NT_113891.2:g.1825115G>A, NT_167248.2:g.1600410G>A, NT_167248.1:g.1606006G>A, NT_167245.2:g.1601174G>A, NT_167245.1:g.1606759G>A, NT_167249.2:g.1643785G>A, NT_167249.1:g.1643083G>A, NT_167246.2:g.1655562G>A, NT_167246.1:g.1661182G>A, NT_167244.2:g.1674824G>A, NT_167244.1:g.1624740G>A, NM_024839.4:c.88G>A, NM_024839.3:c.88G>A, NM_024839.2:c.88G>A, NM_001199120.3:c.88G>A, NM_001199120.2:c.88G>A, NM_001199120.1:c.88G>A, NM_001199121.3:c.88G>A, NM_001199121.2:c.88G>A, NM_001199121.1:c.88G>A, NM_001199119.1:c.1135G>A, NP_079115.1:p.Glu30Lys, NP_001186049.1:p.Glu30Lys, NP_001186050.1:p.Glu30Lys, NP_001186048.1:p.Glu379Lys

Select item 141034658216.

rs1410346582 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:30345338 (GRCh38)
6:30313115 (GRCh37)
Canonical SPDI:: NC_000006.12:30345337:C:G,NC_000006.12:30345337:C:T
Gene:: RPP21 (Varview), TRIM39-RPP21 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30345338C>G, NC_000006.12:g.30345338C>T, NC_000006.11:g.30313115C>G, NC_000006.11:g.30313115C>T, NT_113891.3:g.1825019C>G, NT_113891.3:g.1825019C>T, NT_113891.2:g.1825125C>G, NT_113891.2:g.1825125C>T, NT_167248.2:g.1600420C>G, NT_167248.2:g.1600420C>T, NT_167248.1:g.1606016C>G, NT_167248.1:g.1606016C>T, NT_167245.2:g.1601184C>G, NT_167245.2:g.1601184C>T, NT_167245.1:g.1606769C>G, NT_167245.1:g.1606769C>T, NT_167249.2:g.1643795C>G, NT_167249.2:g.1643795C>T, NT_167249.1:g.1643093C>G, NT_167249.1:g.1643093C>T, NT_167246.2:g.1655572C>G, NT_167246.2:g.1655572C>T, NT_167246.1:g.1661192C>G, NT_167246.1:g.1661192C>T, NT_167244.2:g.1674834C>G, NT_167244.2:g.1674834C>T, NT_167244.1:g.1624750C>G, NT_167244.1:g.1624750C>T, NM_024839.4:c.98C>G, NM_024839.4:c.98C>T, NM_024839.3:c.98C>G, NM_024839.3:c.98C>T, NM_024839.2:c.98C>G, NM_024839.2:c.98C>T, NM_001199120.3:c.98C>G, NM_001199120.3:c.98C>T, NM_001199120.2:c.98C>G, NM_001199120.2:c.98C>T, NM_001199120.1:c.98C>G, NM_001199120.1:c.98C>T, NM_001199121.3:c.98C>G, NM_001199121.3:c.98C>T, NM_001199121.2:c.98C>G, NM_001199121.2:c.98C>T, NM_001199121.1:c.98C>G, NM_001199121.1:c.98C>T, NM_001199119.1:c.1145C>G, NM_001199119.1:c.1145C>T, NP_079115.1:p.Ala33Gly, NP_079115.1:p.Ala33Val, NP_001186049.1:p.Ala33Gly, NP_001186049.1:p.Ala33Val, NP_001186050.1:p.Ala33Gly, NP_001186050.1:p.Ala33Val, NP_001186048.1:p.Ala382Gly, NP_001186048.1:p.Ala382Val

Select item 141026220217.

rs1410262202 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:30346753 (GRCh38)
6:30314530 (GRCh37)
Canonical SPDI:: NC_000006.12:30346752:C:A
Gene:: RPP21 (Varview), TRIM39-RPP21 (Varview)
Functional Consequence:: synonymous_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)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30346753C>A, NC_000006.11:g.30314530C>A, NT_113891.3:g.1826434C>A, NT_113891.2:g.1826540C>A, NT_167248.2:g.1601835C>A, NT_167248.1:g.1607431C>A, NT_167245.2:g.1602599C>A, NT_167245.1:g.1608184C>A, NT_167249.2:g.1645210C>A, NT_167249.1:g.1644508C>A, NT_167246.2:g.1656987C>A, NT_167246.1:g.1662607C>A, NT_167244.2:g.1676249C>A, NT_167244.1:g.1626165C>A, NM_024839.4:c.408C>A, NM_024839.3:c.408C>A, NM_024839.2:c.408C>A, NM_001199120.3:c.432C>A, NM_001199120.2:c.432C>A, NM_001199120.1:c.432C>A, NM_001199121.3:c.415C>A, NM_001199121.2:c.415C>A, NM_001199121.1:c.415C>A, NM_001199119.1:c.1455C>A, NP_001186050.1:p.His139Asn

Select item 140935205818.

rs1409352058 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:30345194 (GRCh38)
6:30312971 (GRCh37)
Canonical SPDI:: NC_000006.12:30345193:G:A,NC_000006.12:30345193:G:T
Gene:: RPP21 (Varview), TRIM39-RPP21 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000006.12:g.30345194G>A, NC_000006.12:g.30345194G>T, NC_000006.11:g.30312971G>A, NC_000006.11:g.30312971G>T, NT_113891.3:g.1824875G>A, NT_113891.3:g.1824875G>T, NT_113891.2:g.1824981G>A, NT_113891.2:g.1824981G>T, NT_167248.2:g.1600276G>A, NT_167248.2:g.1600276G>T, NT_167248.1:g.1605872G>A, NT_167248.1:g.1605872G>T, NT_167245.2:g.1601040G>A, NT_167245.2:g.1601040G>T, NT_167245.1:g.1606625G>A, NT_167245.1:g.1606625G>T, NT_167249.2:g.1643651G>A, NT_167249.2:g.1643651G>T, NT_167249.1:g.1642949G>A, NT_167249.1:g.1642949G>T, NT_167246.2:g.1655428G>A, NT_167246.2:g.1655428G>T, NT_167246.1:g.1661048G>A, NT_167246.1:g.1661048G>T, NT_167244.2:g.1674690G>A, NT_167244.2:g.1674690G>T, NT_167244.1:g.1624606G>A, NT_167244.1:g.1624606G>T, NM_024839.4:c.23G>A, NM_024839.4:c.23G>T, NM_024839.3:c.23G>A, NM_024839.3:c.23G>T, NM_024839.2:c.23G>A, NM_024839.2:c.23G>T, NM_001199120.3:c.23G>A, NM_001199120.3:c.23G>T, NM_001199120.2:c.23G>A, NM_001199120.2:c.23G>T, NM_001199120.1:c.23G>A, NM_001199120.1:c.23G>T, NM_001199121.3:c.23G>A, NM_001199121.3:c.23G>T, NM_001199121.2:c.23G>A, NM_001199121.2:c.23G>T, NM_001199121.1:c.23G>A, NM_001199121.1:c.23G>T, NP_079115.1:p.Arg8His, NP_079115.1:p.Arg8Leu, NP_001186049.1:p.Arg8His, NP_001186049.1:p.Arg8Leu, NP_001186050.1:p.Arg8His, NP_001186050.1:p.Arg8Leu

Select item 140900791019.

rs1409007910 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:30345205 (GRCh38)
6:30312982 (GRCh37)
Canonical SPDI:: NC_000006.12:30345204:C:T
Gene:: RPP21 (Varview), TRIM39-RPP21 (Varview)
Functional Consequence:: intron_variant,stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30345205C>T, NC_000006.11:g.30312982C>T, NT_113891.3:g.1824886C>T, NT_113891.2:g.1824992C>T, NT_167248.2:g.1600287C>T, NT_167248.1:g.1605883C>T, NT_167245.2:g.1601051C>T, NT_167245.1:g.1606636C>T, NT_167249.2:g.1643662C>T, NT_167249.1:g.1642960C>T, NT_167246.2:g.1655439C>T, NT_167246.1:g.1661059C>T, NT_167244.2:g.1674701C>T, NT_167244.1:g.1624617C>T, NM_024839.4:c.34C>T, NM_024839.3:c.34C>T, NM_024839.2:c.34C>T, NM_001199120.3:c.34C>T, NM_001199120.2:c.34C>T, NM_001199120.1:c.34C>T, NM_001199121.3:c.34C>T, NM_001199121.2:c.34C>T, NM_001199121.1:c.34C>T, NP_079115.1:p.Gln12Ter, NP_001186049.1:p.Gln12Ter, NP_001186050.1:p.Gln12Ter

Select item 140527314720.

rs1405273147 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:30346543 (GRCh38)
6:30314320 (GRCh37)
Canonical SPDI:: NC_000006.12:30346542:T:C
Gene:: RPP21 (Varview), TRIM39-RPP21 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30346543T>C, NC_000006.11:g.30314320T>C, NT_113891.3:g.1826224T>C, NT_113891.2:g.1826330T>C, NT_167248.2:g.1601625T>C, NT_167248.1:g.1607221T>C, NT_167245.2:g.1602389T>C, NT_167245.1:g.1607974T>C, NT_167249.2:g.1645000T>C, NT_167249.1:g.1644298T>C, NT_167246.2:g.1656777T>C, NT_167246.1:g.1662397T>C, NT_167244.2:g.1676039T>C, NT_167244.1:g.1625955T>C, NM_024839.4:c.353T>C, NM_024839.3:c.353T>C, NM_024839.2:c.353T>C, NM_001199120.3:c.377T>C, NM_001199120.2:c.377T>C, NM_001199120.1:c.377T>C, NM_001199121.3:c.353T>C, NM_001199121.2:c.353T>C, NM_001199121.1:c.353T>C, NM_001199119.1:c.1400T>C, NP_079115.1:p.Leu118Pro, NP_001186049.1:p.Leu126Pro, NP_001186050.1:p.Leu118Pro, NP_001186048.1:p.Leu467Pro

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