SNP Links for Protein (Select 301171605) - SNP

Links from Protein

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Select item 14789210791.

rs1478921079 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:14878903 (GRCh38)
10:14920902 (GRCh37)
Canonical SPDI:: NC_000010.11:14878902:G:A
Gene:: SUV39H2 (Varview), LOC124902382 (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.14878903G>A, NC_000010.10:g.14920902G>A, NM_024670.4:c.-228G>A, NM_024670.3:c.-228G>A, XM_011519662.3:c.-747G>A, NM_001193425.2:c.-207G>A, NM_001193425.1:c.-207G>A, NM_001193424.2:c.15G>A, NM_001193424.1:c.15G>A, NR_034181.2:n.38G>A, NR_034181.1:n.121G>A, NM_001193427.2:c.-207G>A, NM_001193427.1:c.-207G>A, NM_001193426.2:c.15G>A, NM_001193426.1:c.15G>A, XM_047425741.1:c.-780G>A

Select item 14706925352.

rs1470692535 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:14881543 (GRCh38)
10:14923542 (GRCh37)
Canonical SPDI:: NC_000010.11:14881542:A:G
Gene:: SUV39H2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.14881543A>G, NC_000010.10:g.14923542A>G, XM_011519662.3:c.-106A>G, XM_011519662.2:c.-106A>G, XM_011519662.1:c.-106A>G, NM_001193425.2:c.-106A>G, NM_001193425.1:c.-106A>G, NM_001193424.2:c.75A>G, NM_001193424.1:c.75A>G, NM_001193427.2:c.-106A>G, NM_001193427.1:c.-106A>G, NM_001193426.2:c.75A>G, NM_001193426.1:c.75A>G, XM_047425741.1:c.-106A>G

Select item 14702311673.

rs1470231167 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 10:14901158 (GRCh38)
10:14943157 (GRCh37)
Canonical SPDI:: NC_000010.11:14901157:A:G,NC_000010.11:14901157:A:T
Gene:: DCLRE1C (Varview), SUV39H2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.14901158A>G, NC_000010.11:g.14901158A>T, NC_000010.10:g.14943157A>G, NC_000010.10:g.14943157A>T, NM_024670.4:c.842A>G, NM_024670.4:c.842A>T, NM_024670.3:c.842A>G, NM_024670.3:c.842A>T, XM_011519662.3:c.842A>G, XM_011519662.3:c.842A>T, XM_011519662.2:c.842A>G, XM_011519662.2:c.842A>T, XM_011519662.1:c.842A>G, XM_011519662.1:c.842A>T, NM_001193425.2:c.842A>G, NM_001193425.2:c.842A>T, NM_001193425.1:c.842A>G, NM_001193425.1:c.842A>T, NM_001193424.2:c.1022A>G, NM_001193424.2:c.1022A>T, NM_001193424.1:c.1022A>G, NM_001193424.1:c.1022A>T, NR_034181.2:n.899A>G, NR_034181.2:n.899A>T, NR_034181.1:n.982A>G, NR_034181.1:n.982A>T, NM_001193427.2:c.302A>G, NM_001193427.2:c.302A>T, NM_001193427.1:c.302A>G, NM_001193427.1:c.302A>T, NM_001193426.2:c.482A>G, NM_001193426.2:c.482A>T, NM_001193426.1:c.482A>G, NM_001193426.1:c.482A>T, XM_047425741.1:c.842A>G, XM_047425741.1:c.842A>T, NP_078946.1:p.Asn281Ser, NP_078946.1:p.Asn281Ile, XP_011517964.1:p.Asn281Ser, XP_011517964.1:p.Asn281Ile, NP_001180354.1:p.Asn281Ser, NP_001180354.1:p.Asn281Ile, NP_001180353.1:p.Asn341Ser, NP_001180353.1:p.Asn341Ile, NP_001180356.1:p.Asn101Ser, NP_001180356.1:p.Asn101Ile, NP_001180355.1:p.Asn161Ser, NP_001180355.1:p.Asn161Ile, XP_047281697.1:p.Asn281Ser, XP_047281697.1:p.Asn281Ile

Select item 14619181554.

rs1461918155 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 10:14899539 (GRCh38)
10:14941538 (GRCh37)
Canonical SPDI:: NC_000010.11:14899538:G:A,NC_000010.11:14899538:G:T
Gene:: DCLRE1C (Varview), SUV39H2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.14899539G>A, NC_000010.11:g.14899539G>T, NC_000010.10:g.14941538G>A, NC_000010.10:g.14941538G>T, NM_024670.4:c.670G>A, NM_024670.4:c.670G>T, NM_024670.3:c.670G>A, NM_024670.3:c.670G>T, XM_011519662.3:c.670G>A, XM_011519662.3:c.670G>T, XM_011519662.2:c.670G>A, XM_011519662.2:c.670G>T, XM_011519662.1:c.670G>A, XM_011519662.1:c.670G>T, NM_001193425.2:c.670G>A, NM_001193425.2:c.670G>T, NM_001193425.1:c.670G>A, NM_001193425.1:c.670G>T, NM_001193424.2:c.850G>A, NM_001193424.2:c.850G>T, NM_001193424.1:c.850G>A, NM_001193424.1:c.850G>T, NR_034181.2:n.727G>A, NR_034181.2:n.727G>T, NR_034181.1:n.810G>A, NR_034181.1:n.810G>T, NM_001193427.2:c.130G>A, NM_001193427.2:c.130G>T, NM_001193427.1:c.130G>A, NM_001193427.1:c.130G>T, NM_001193426.2:c.310G>A, NM_001193426.2:c.310G>T, NM_001193426.1:c.310G>A, NM_001193426.1:c.310G>T, XM_047425741.1:c.670G>A, XM_047425741.1:c.670G>T, NP_078946.1:p.Val224Ile, NP_078946.1:p.Val224Leu, XP_011517964.1:p.Val224Ile, XP_011517964.1:p.Val224Leu, NP_001180354.1:p.Val224Ile, NP_001180354.1:p.Val224Leu, NP_001180353.1:p.Val284Ile, NP_001180353.1:p.Val284Leu, NP_001180356.1:p.Val44Ile, NP_001180356.1:p.Val44Leu, NP_001180355.1:p.Val104Ile, NP_001180355.1:p.Val104Leu, XP_047281697.1:p.Val224Ile, XP_047281697.1:p.Val224Leu

Select item 14608937725.

rs1460893772 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:14896889 (GRCh38)
10:14938888 (GRCh37)
Canonical SPDI:: NC_000010.11:14896888:C:T
Gene:: DCLRE1C (Varview), SUV39H2 (Varview)
Functional Consequence:: 500B_downstream_variant,coding_sequence_variant,non_coding_transcript_variant,downstream_transcript_variant,missense_variant
HGVS:: NC_000010.11:g.14896889C>T, NC_000010.10:g.14938888C>T, NM_024670.4:c.41C>T, NM_024670.3:c.41C>T, XM_011519662.3:c.41C>T, XM_011519662.2:c.41C>T, XM_011519662.1:c.41C>T, NM_001193425.2:c.41C>T, NM_001193425.1:c.41C>T, NM_001193424.2:c.221C>T, NM_001193424.1:c.221C>T, NR_034181.2:n.98C>T, NR_034181.1:n.181C>T, NM_001193427.2:c.41C>T, NM_001193427.1:c.41C>T, NM_001193426.2:c.221C>T, NM_001193426.1:c.221C>T, XM_047425741.1:c.41C>T, NP_078946.1:p.Ser14Phe, XP_011517964.1:p.Ser14Phe, NP_001180354.1:p.Ser14Phe, NP_001180353.1:p.Ser74Phe, NP_001180356.1:p.Ser14Phe, NP_001180355.1:p.Ser74Phe, XP_047281697.1:p.Ser14Phe

Select item 14561418866.

rs1456141886 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:14902508 (GRCh38)
10:14944507 (GRCh37)
Canonical SPDI:: NC_000010.11:14902507:A:G
Gene:: DCLRE1C (Varview), SUV39H2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000010.11:g.14902508A>G, NC_000010.10:g.14944507A>G, NM_024670.4:c.1049A>G, NM_024670.3:c.1049A>G, XM_011519662.3:c.1049A>G, XM_011519662.2:c.1049A>G, XM_011519662.1:c.1049A>G, NM_001193425.2:c.1049A>G, NM_001193425.1:c.1049A>G, NM_001193424.2:c.1229A>G, NM_001193424.1:c.1229A>G, NR_034181.2:n.1106A>G, NR_034181.1:n.1189A>G, NM_001193427.2:c.509A>G, NM_001193427.1:c.509A>G, NM_001193426.2:c.689A>G, NM_001193426.1:c.689A>G, XM_047425741.1:c.1049A>G, NP_078946.1:p.Asn350Ser, XP_011517964.1:p.Asn350Ser, NP_001180354.1:p.Asn350Ser, NP_001180353.1:p.Asn410Ser, NP_001180356.1:p.Asn170Ser, NP_001180355.1:p.Asn230Ser, XP_047281697.1:p.Asn350Ser

Select item 14451059117.

rs1445105911 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:14878906 (GRCh38)
10:14920905 (GRCh37)
Canonical SPDI:: NC_000010.11:14878905:C:A,NC_000010.11:14878905:C:T
Gene:: SUV39H2 (Varview), LOC124902382 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.14878906C>A, NC_000010.11:g.14878906C>T, NC_000010.10:g.14920905C>A, NC_000010.10:g.14920905C>T, NM_024670.4:c.-225C>A, NM_024670.4:c.-225C>T, NM_024670.3:c.-225C>A, NM_024670.3:c.-225C>T, XM_011519662.3:c.-744C>A, XM_011519662.3:c.-744C>T, NM_001193425.2:c.-204C>A, NM_001193425.2:c.-204C>T, NM_001193425.1:c.-204C>A, NM_001193425.1:c.-204C>T, NM_001193424.2:c.18C>A, NM_001193424.2:c.18C>T, NM_001193424.1:c.18C>A, NM_001193424.1:c.18C>T, NR_034181.2:n.41C>A, NR_034181.2:n.41C>T, NR_034181.1:n.124C>A, NR_034181.1:n.124C>T, NM_001193427.2:c.-204C>A, NM_001193427.2:c.-204C>T, NM_001193427.1:c.-204C>A, NM_001193427.1:c.-204C>T, NM_001193426.2:c.18C>A, NM_001193426.2:c.18C>T, NM_001193426.1:c.18C>A, NM_001193426.1:c.18C>T, XM_047425741.1:c.-777C>A, XM_047425741.1:c.-777C>T

Select item 14406568508.

rs1440656850 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:14896933 (GRCh38)
10:14938932 (GRCh37)
Canonical SPDI:: NC_000010.11:14896932:C:A
Gene:: DCLRE1C (Varview), SUV39H2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant,coding_sequence_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)
HGVS:: NC_000010.11:g.14896933C>A, NC_000010.10:g.14938932C>A, NM_024670.4:c.85C>A, NM_024670.3:c.85C>A, XM_011519662.3:c.85C>A, XM_011519662.2:c.85C>A, XM_011519662.1:c.85C>A, NM_001193425.2:c.85C>A, NM_001193425.1:c.85C>A, NM_001193424.2:c.265C>A, NM_001193424.1:c.265C>A, NR_034181.2:n.142C>A, NR_034181.1:n.225C>A, NM_001193427.2:c.85C>A, NM_001193427.1:c.85C>A, NM_001193426.2:c.265C>A, NM_001193426.1:c.265C>A, XM_047425741.1:c.85C>A, NP_078946.1:p.Leu29Met, XP_011517964.1:p.Leu29Met, NP_001180354.1:p.Leu29Met, NP_001180353.1:p.Leu89Met, NP_001180356.1:p.Leu29Met, NP_001180355.1:p.Leu89Met, XP_047281697.1:p.Leu29Met

Select item 14391552219.

rs1439155221 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:14878911 (GRCh38)
10:14920910 (GRCh37)
Canonical SPDI:: NC_000010.11:14878910:C:G,NC_000010.11:14878910:C:T
Gene:: SUV39H2 (Varview), LOC124902382 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00056/1 (Korea1K)
HGVS:: NC_000010.11:g.14878911C>G, NC_000010.11:g.14878911C>T, NC_000010.10:g.14920910C>G, NC_000010.10:g.14920910C>T, NM_024670.4:c.-220C>G, NM_024670.4:c.-220C>T, NM_024670.3:c.-220C>G, NM_024670.3:c.-220C>T, XM_011519662.3:c.-739C>G, XM_011519662.3:c.-739C>T, NM_001193425.2:c.-199C>G, NM_001193425.2:c.-199C>T, NM_001193425.1:c.-199C>G, NM_001193425.1:c.-199C>T, NM_001193424.2:c.23C>G, NM_001193424.2:c.23C>T, NM_001193424.1:c.23C>G, NM_001193424.1:c.23C>T, NR_034181.2:n.46C>G, NR_034181.2:n.46C>T, NR_034181.1:n.129C>G, NR_034181.1:n.129C>T, NM_001193427.2:c.-199C>G, NM_001193427.2:c.-199C>T, NM_001193427.1:c.-199C>G, NM_001193427.1:c.-199C>T, NM_001193426.2:c.23C>G, NM_001193426.2:c.23C>T, NM_001193426.1:c.23C>G, NM_001193426.1:c.23C>T, XM_047425741.1:c.-772C>G, XM_047425741.1:c.-772C>T, NP_001180353.1:p.Ala8Gly, NP_001180353.1:p.Ala8Val, NP_001180355.1:p.Ala8Gly, NP_001180355.1:p.Ala8Val

Select item 143756619610.

rs1437566196 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:14902415 (GRCh38)
10:14944414 (GRCh37)
Canonical SPDI:: NC_000010.11:14902414:A:G
Gene:: DCLRE1C (Varview), SUV39H2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.14902415A>G, NC_000010.10:g.14944414A>G, NM_024670.4:c.956A>G, NM_024670.3:c.956A>G, XM_011519662.3:c.956A>G, XM_011519662.2:c.956A>G, XM_011519662.1:c.956A>G, NM_001193425.2:c.956A>G, NM_001193425.1:c.956A>G, NM_001193424.2:c.1136A>G, NM_001193424.1:c.1136A>G, NR_034181.2:n.1013A>G, NR_034181.1:n.1096A>G, NM_001193427.2:c.416A>G, NM_001193427.1:c.416A>G, NM_001193426.2:c.596A>G, NM_001193426.1:c.596A>G, XM_047425741.1:c.956A>G, NP_078946.1:p.Asp319Gly, XP_011517964.1:p.Asp319Gly, NP_001180354.1:p.Asp319Gly, NP_001180353.1:p.Asp379Gly, NP_001180356.1:p.Asp139Gly, NP_001180355.1:p.Asp199Gly, XP_047281697.1:p.Asp319Gly

Select item 143484352511.

rs1434843525 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:14896888 (GRCh38)
10:14938887 (GRCh37)
Canonical SPDI:: NC_000010.11:14896887:T:C
Gene:: DCLRE1C (Varview), SUV39H2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.14896888T>C, NC_000010.10:g.14938887T>C, NM_024670.4:c.40T>C, NM_024670.3:c.40T>C, XM_011519662.3:c.40T>C, XM_011519662.2:c.40T>C, XM_011519662.1:c.40T>C, NM_001193425.2:c.40T>C, NM_001193425.1:c.40T>C, NM_001193424.2:c.220T>C, NM_001193424.1:c.220T>C, NR_034181.2:n.97T>C, NR_034181.1:n.180T>C, NM_001193427.2:c.40T>C, NM_001193427.1:c.40T>C, NM_001193426.2:c.220T>C, NM_001193426.1:c.220T>C, XM_047425741.1:c.40T>C, NP_078946.1:p.Ser14Pro, XP_011517964.1:p.Ser14Pro, NP_001180354.1:p.Ser14Pro, NP_001180353.1:p.Ser74Pro, NP_001180356.1:p.Ser14Pro, NP_001180355.1:p.Ser74Pro, XP_047281697.1:p.Ser14Pro

Select item 141851766312.

rs1418517663 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:14881597 (GRCh38)
10:14923596 (GRCh37)
Canonical SPDI:: NC_000010.11:14881596:T:C
Gene:: SUV39H2 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.14881597T>C, NC_000010.10:g.14923596T>C, XM_011519662.3:c.-52T>C, XM_011519662.2:c.-52T>C, XM_011519662.1:c.-52T>C, NM_001193425.2:c.-52T>C, NM_001193425.1:c.-52T>C, NM_001193424.2:c.129T>C, NM_001193424.1:c.129T>C, NM_001193427.2:c.-52T>C, NM_001193427.1:c.-52T>C, NM_001193426.2:c.129T>C, NM_001193426.1:c.129T>C, XM_047425741.1:c.-52T>C

Select item 140603694513.

rs1406036945 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:14881511 (GRCh38)
10:14923510 (GRCh37)
Canonical SPDI:: NC_000010.11:14881510:C:A
Gene:: SUV39H2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.14881511C>A, NC_000010.10:g.14923510C>A, XM_011519662.3:c.-138C>A, XM_011519662.2:c.-138C>A, XM_011519662.1:c.-138C>A, NM_001193425.2:c.-138C>A, NM_001193425.1:c.-138C>A, NM_001193424.2:c.43C>A, NM_001193424.1:c.43C>A, NM_001193427.2:c.-138C>A, NM_001193427.1:c.-138C>A, NM_001193426.2:c.43C>A, NM_001193426.1:c.43C>A, XM_047425741.1:c.-138C>A, NP_001180353.1:p.Pro15Thr, NP_001180355.1:p.Pro15Thr

Select item 140546811714.

rs1405468117 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:14878918 (GRCh38)
10:14920917 (GRCh37)
Canonical SPDI:: NC_000010.11:14878917:A:T
Gene:: SUV39H2 (Varview), LOC124902382 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant,synonymous_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.14878918A>T, NC_000010.10:g.14920917A>T, NM_024670.4:c.-213A>T, NM_024670.3:c.-213A>T, XM_011519662.3:c.-732A>T, NM_001193425.2:c.-192A>T, NM_001193425.1:c.-192A>T, NM_001193424.2:c.30A>T, NM_001193424.1:c.30A>T, NR_034181.2:n.53A>T, NR_034181.1:n.136A>T, NM_001193427.2:c.-192A>T, NM_001193427.1:c.-192A>T, NM_001193426.2:c.30A>T, NM_001193426.1:c.30A>T, XM_047425741.1:c.-765A>T

Select item 138362467515.

rs1383624675 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:14896850 (GRCh38)
10:14938849 (GRCh37)
Canonical SPDI:: NC_000010.11:14896849:T:C
Gene:: SUV39H2 (Varview)
Functional Consequence:: initiator_codon_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000010.11:g.14896850T>C, NC_000010.10:g.14938849T>C, NM_024670.4:c.2T>C, NM_024670.3:c.2T>C, XM_011519662.3:c.2T>C, XM_011519662.2:c.2T>C, XM_011519662.1:c.2T>C, NM_001193425.2:c.2T>C, NM_001193425.1:c.2T>C, NM_001193424.2:c.182T>C, NM_001193424.1:c.182T>C, NR_034181.2:n.59T>C, NR_034181.1:n.142T>C, NM_001193427.2:c.2T>C, NM_001193427.1:c.2T>C, NM_001193426.2:c.182T>C, NM_001193426.1:c.182T>C, XM_047425741.1:c.2T>C, NP_078946.1:p.Met1Thr, XP_011517964.1:p.Met1Thr, NP_001180354.1:p.Met1Thr, NP_001180353.1:p.Met61Thr, NP_001180356.1:p.Met1Thr, NP_001180355.1:p.Met61Thr, XP_047281697.1:p.Met1Thr

Select item 138014932916.

rs1380149329 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:14896930 (GRCh38)
10:14938929 (GRCh37)
Canonical SPDI:: NC_000010.11:14896929:T:C
Gene:: DCLRE1C (Varview), SUV39H2 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,downstream_transcript_variant,coding_sequence_variant,500B_downstream_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.14896930T>C, NC_000010.10:g.14938929T>C, NM_024670.4:c.82T>C, NM_024670.3:c.82T>C, XM_011519662.3:c.82T>C, XM_011519662.2:c.82T>C, XM_011519662.1:c.82T>C, NM_001193425.2:c.82T>C, NM_001193425.1:c.82T>C, NM_001193424.2:c.262T>C, NM_001193424.1:c.262T>C, NR_034181.2:n.139T>C, NR_034181.1:n.222T>C, NM_001193427.2:c.82T>C, NM_001193427.1:c.82T>C, NM_001193426.2:c.262T>C, NM_001193426.1:c.262T>C, XM_047425741.1:c.82T>C

Select item 137501169117.

rs1375011691 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:14902445 (GRCh38)
10:14944444 (GRCh37)
Canonical SPDI:: NC_000010.11:14902444:C:A
Gene:: DCLRE1C (Varview), SUV39H2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.14902445C>A, NC_000010.10:g.14944444C>A, NM_024670.4:c.986C>A, NM_024670.3:c.986C>A, XM_011519662.3:c.986C>A, XM_011519662.2:c.986C>A, XM_011519662.1:c.986C>A, NM_001193425.2:c.986C>A, NM_001193425.1:c.986C>A, NM_001193424.2:c.1166C>A, NM_001193424.1:c.1166C>A, NR_034181.2:n.1043C>A, NR_034181.1:n.1126C>A, NM_001193427.2:c.446C>A, NM_001193427.1:c.446C>A, NM_001193426.2:c.626C>A, NM_001193426.1:c.626C>A, XM_047425741.1:c.986C>A, NP_078946.1:p.Pro329Gln, XP_011517964.1:p.Pro329Gln, NP_001180354.1:p.Pro329Gln, NP_001180353.1:p.Pro389Gln, NP_001180356.1:p.Pro149Gln, NP_001180355.1:p.Pro209Gln, XP_047281697.1:p.Pro329Gln

Select item 136460680118.

rs1364606801 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:14901185 (GRCh38)
10:14943184 (GRCh37)
Canonical SPDI:: NC_000010.11:14901184:G:A
Gene:: DCLRE1C (Varview), SUV39H2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_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_000010.11:g.14901185G>A, NC_000010.10:g.14943184G>A, NM_024670.4:c.869G>A, NM_024670.3:c.869G>A, XM_011519662.3:c.869G>A, XM_011519662.2:c.869G>A, XM_011519662.1:c.869G>A, NM_001193425.2:c.869G>A, NM_001193425.1:c.869G>A, NM_001193424.2:c.1049G>A, NM_001193424.1:c.1049G>A, NR_034181.2:n.926G>A, NR_034181.1:n.1009G>A, NM_001193427.2:c.329G>A, NM_001193427.1:c.329G>A, NM_001193426.2:c.509G>A, NM_001193426.1:c.509G>A, XM_047425741.1:c.869G>A, NP_078946.1:p.Arg290His, XP_011517964.1:p.Arg290His, NP_001180354.1:p.Arg290His, NP_001180353.1:p.Arg350His, NP_001180356.1:p.Arg110His, NP_001180355.1:p.Arg170His, XP_047281697.1:p.Arg290His

Select item 136403213519.

rs1364032135 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:14902504 (GRCh38)
10:14944503 (GRCh37)
Canonical SPDI:: NC_000010.11:14902503:C:G
Gene:: DCLRE1C (Varview), SUV39H2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000010.11:g.14902504C>G, NC_000010.10:g.14944503C>G, NM_024670.4:c.1045C>G, NM_024670.3:c.1045C>G, XM_011519662.3:c.1045C>G, XM_011519662.2:c.1045C>G, XM_011519662.1:c.1045C>G, NM_001193425.2:c.1045C>G, NM_001193425.1:c.1045C>G, NM_001193424.2:c.1225C>G, NM_001193424.1:c.1225C>G, NR_034181.2:n.1102C>G, NR_034181.1:n.1185C>G, NM_001193427.2:c.505C>G, NM_001193427.1:c.505C>G, NM_001193426.2:c.685C>G, NM_001193426.1:c.685C>G, XM_047425741.1:c.1045C>G, NP_078946.1:p.Leu349Val, XP_011517964.1:p.Leu349Val, NP_001180354.1:p.Leu349Val, NP_001180353.1:p.Leu409Val, NP_001180356.1:p.Leu169Val, NP_001180355.1:p.Leu229Val, XP_047281697.1:p.Leu349Val

Select item 135805570020.

rs1358055700 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:14881563 (GRCh38)
10:14923562 (GRCh37)
Canonical SPDI:: NC_000010.11:14881562:T:C
Gene:: SUV39H2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant,intron_variant
HGVS:: NC_000010.11:g.14881563T>C, NC_000010.10:g.14923562T>C, XM_011519662.3:c.-86T>C, XM_011519662.2:c.-86T>C, XM_011519662.1:c.-86T>C, NM_001193425.2:c.-86T>C, NM_001193425.1:c.-86T>C, NM_001193424.2:c.95T>C, NM_001193424.1:c.95T>C, NM_001193427.2:c.-86T>C, NM_001193427.1:c.-86T>C, NM_001193426.2:c.95T>C, NM_001193426.1:c.95T>C, XM_047425741.1:c.-86T>C, NP_001180353.1:p.Leu32Pro, NP_001180355.1:p.Leu32Pro

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