SNP Links for Protein (Select 116805327) - SNP

Links from Protein

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Select item 14908555041.

rs1490855504 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:183099377 (GRCh38)
3:182817165 (GRCh37)
Canonical SPDI:: NC_000003.12:183099376:G:A
Gene:: MCCC1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.183099377G>A, NC_000003.11:g.182817165G>A, NG_008100.1:g.5201C>T, NM_020166.5:c.64C>T, NM_020166.4:c.64C>T, NM_020166.3:c.64C>T, NM_001293273.2:c.-29C>T, NM_001293273.1:c.-29C>T, NR_120639.2:n.120C>T, NR_120639.1:n.211C>T, NM_001363880.1:c.-127C>T, XR_007095707.1:n.211C>T, XM_047448587.1:c.64C>T, XM_047448590.1:c.64C>T, NP_064551.3:p.Leu22Phe, XP_047304543.1:p.Leu22Phe, XP_047304546.1:p.Leu22Phe

Select item 14903665272.

rs1490366527 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:183071240 (GRCh38)
3:182789028 (GRCh37)
Canonical SPDI:: NC_000003.12:183071239:C:A
Gene:: MCCC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_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.183071240C>A, NC_000003.11:g.182789028C>A, NG_008100.1:g.33338G>T, NM_020166.5:c.609G>T, NM_020166.4:c.609G>T, NM_020166.3:c.609G>T, NR_120640.2:n.1276G>T, NR_120640.1:n.1276G>T, NM_001293273.2:c.258G>T, NM_001293273.1:c.258G>T, NR_120639.2:n.432G>T, NR_120639.1:n.523G>T, NM_001363880.1:c.282G>T, XM_011512992.3:c.495G>T, XM_011512992.2:c.495G>T, XM_011512992.1:c.495G>T, XM_047448586.1:c.558G>T, XM_047448588.1:c.282G>T, XM_047448589.1:c.282G>T, XM_047448591.1:c.558G>T, XR_007095707.1:n.756G>T, XM_047448587.1:c.609G>T, XM_047448590.1:c.609G>T, NP_064551.3:p.Met203Ile, NP_001280202.1:p.Met86Ile, NP_001350809.1:p.Met94Ile, XP_011511294.1:p.Met165Ile, XP_047304542.1:p.Met186Ile, XP_047304544.1:p.Met94Ile, XP_047304545.1:p.Met94Ile, XP_047304547.1:p.Met186Ile, XP_047304543.1:p.Met203Ile, XP_047304546.1:p.Met203Ile

Select item 14870441343.

rs1487044134 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:183057397 (GRCh38)
3:182775185 (GRCh37)
Canonical SPDI:: NC_000003.12:183057396:C:T
Gene:: MCCC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000003.12:g.183057397C>T, NC_000003.11:g.182775185C>T, NG_008100.1:g.47181G>A, NM_020166.5:c.787G>A, NM_020166.4:c.787G>A, NM_020166.3:c.787G>A, NR_120640.2:n.1454G>A, NR_120640.1:n.1454G>A, NM_001293273.2:c.436G>A, NM_001293273.1:c.436G>A, NR_120639.2:n.610G>A, NR_120639.1:n.701G>A, NM_001363880.1:c.460G>A, XM_011512992.3:c.673G>A, XM_011512992.2:c.673G>A, XM_011512992.1:c.673G>A, XM_047448586.1:c.736G>A, XM_047448588.1:c.460G>A, XM_047448589.1:c.460G>A, XM_047448591.1:c.736G>A, XR_007095707.1:n.934G>A, XM_047448587.1:c.787G>A, XM_047448590.1:c.787G>A, NP_064551.3:p.Asp263Asn, NP_001280202.1:p.Asp146Asn, NP_001350809.1:p.Asp154Asn, XP_011511294.1:p.Asp225Asn, XP_047304542.1:p.Asp246Asn, XP_047304544.1:p.Asp154Asn, XP_047304545.1:p.Asp154Asn, XP_047304547.1:p.Asp246Asn, XP_047304543.1:p.Asp263Asn, XP_047304546.1:p.Asp263Asn

Select item 14862405384.

rs1486240538 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 3:183072422 (GRCh38)
3:182790210 (GRCh37)
Canonical SPDI:: NC_000003.12:183072421:TT:T
Gene:: MCCC1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,frameshift_variant
Clinical significance:: pathogenic
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.183072423del, NC_000003.11:g.182790211del, NG_008100.1:g.32156del, NM_020166.5:c.435del, NM_020166.4:c.435del, NM_020166.3:c.435del, NR_120640.2:n.1102del, NR_120640.1:n.1102del, NR_120639.2:n.258del, NR_120639.1:n.349del, NM_001363880.1:c.108del, XM_011512992.3:c.321del, XM_011512992.2:c.321del, XM_011512992.1:c.321del, XM_047448586.1:c.384del, XM_047448588.1:c.108del, XM_047448589.1:c.108del, XM_047448591.1:c.384del, XR_007095707.1:n.582del, XM_047448587.1:c.435del, XM_047448590.1:c.435del, NP_064551.3:p.Gly146fs, NP_001350809.1:p.Gly37fs, XP_011511294.1:p.Gly108fs, XP_047304542.1:p.Gly129fs, XP_047304544.1:p.Gly37fs, XP_047304545.1:p.Gly37fs, XP_047304547.1:p.Gly129fs, XP_047304543.1:p.Gly146fs, XP_047304546.1:p.Gly146fs

Select item 14861311085.

rs1486131108 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:183025757 (GRCh38)
3:182743545 (GRCh37)
Canonical SPDI:: NC_000003.12:183025756:G:C
Gene:: MCCC1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.183025757G>C, NC_000003.11:g.182743545G>C, NG_008100.1:g.78821C>G, NM_020166.5:c.1729C>G, NM_020166.4:c.1729C>G, NM_020166.3:c.1729C>G, NR_120640.2:n.2276C>G, NR_120640.1:n.2276C>G, NM_001293273.2:c.1378C>G, NM_001293273.1:c.1378C>G, NM_001363880.1:c.1402C>G, XM_011512992.3:c.1615C>G, XM_011512992.2:c.1615C>G, XM_011512992.1:c.1615C>G, XM_047448586.1:c.1678C>G, XM_047448588.1:c.1402C>G, XM_047448589.1:c.1402C>G, XR_007095707.1:n.1973C>G, NP_064551.3:p.Gln577Glu, NP_001280202.1:p.Gln460Glu, NP_001350809.1:p.Gln468Glu, XP_011511294.1:p.Gln539Glu, XP_047304542.1:p.Gln560Glu, XP_047304544.1:p.Gln468Glu, XP_047304545.1:p.Gln468Glu

Select item 14851574656.

rs1485157465 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:183092435 (GRCh38)
3:182810223 (GRCh37)
Canonical SPDI:: NC_000003.12:183092434:C:G,NC_000003.12:183092434:C:T
Gene:: MCCC1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.183092435C>G, NC_000003.12:g.183092435C>T, NC_000003.11:g.182810223C>G, NC_000003.11:g.182810223C>T, NG_008100.1:g.12143G>C, NG_008100.1:g.12143G>A, NM_020166.5:c.247G>C, NM_020166.5:c.247G>A, NM_020166.4:c.247G>C, NM_020166.4:c.247G>A, NM_020166.3:c.247G>C, NM_020166.3:c.247G>A, NR_120640.2:n.914G>C, NR_120640.2:n.914G>A, NR_120640.1:n.914G>C, NR_120640.1:n.914G>A, XM_011512992.3:c.133G>C, XM_011512992.3:c.133G>A, XM_011512992.2:c.133G>C, XM_011512992.2:c.133G>A, XM_011512992.1:c.133G>C, XM_011512992.1:c.133G>A, XM_047448586.1:c.196G>C, XM_047448586.1:c.196G>A, XM_047448591.1:c.196G>C, XM_047448591.1:c.196G>A, XR_007095707.1:n.394G>C, XR_007095707.1:n.394G>A, XM_047448587.1:c.247G>C, XM_047448587.1:c.247G>A, XM_047448590.1:c.247G>C, XM_047448590.1:c.247G>A, NP_064551.3:p.Asp83His, NP_064551.3:p.Asp83Asn, XP_011511294.1:p.Asp45His, XP_011511294.1:p.Asp45Asn, XP_047304542.1:p.Asp66His, XP_047304542.1:p.Asp66Asn, XP_047304547.1:p.Asp66His, XP_047304547.1:p.Asp66Asn, XP_047304543.1:p.Asp83His, XP_047304543.1:p.Asp83Asn, XP_047304546.1:p.Asp83His, XP_047304546.1:p.Asp83Asn

Select item 14843479247.

rs1484347924 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:183041609 (GRCh38)
3:182759397 (GRCh37)
Canonical SPDI:: NC_000003.12:183041608:G:A,NC_000003.12:183041608:G:C
Gene:: MCCC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,stop_gained
Clinical significance:: uncertain-significance,pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
A=0.001027/3 (KOREAN)
HGVS:: NC_000003.12:g.183041609G>A, NC_000003.12:g.183041609G>C, NC_000003.11:g.182759397G>A, NC_000003.11:g.182759397G>C, NG_008100.1:g.62969C>T, NG_008100.1:g.62969C>G, NM_020166.5:c.1225C>T, NM_020166.5:c.1225C>G, NM_020166.4:c.1225C>T, NM_020166.4:c.1225C>G, NM_020166.3:c.1225C>T, NM_020166.3:c.1225C>G, NR_120640.2:n.1892C>T, NR_120640.2:n.1892C>G, NR_120640.1:n.1892C>T, NR_120640.1:n.1892C>G, NM_001293273.2:c.874C>T, NM_001293273.2:c.874C>G, NM_001293273.1:c.874C>T, NM_001293273.1:c.874C>G, NR_120639.2:n.1048C>T, NR_120639.2:n.1048C>G, NR_120639.1:n.1139C>T, NR_120639.1:n.1139C>G, NM_001363880.1:c.898C>T, NM_001363880.1:c.898C>G, XM_011512992.3:c.1111C>T, XM_011512992.3:c.1111C>G, XM_011512992.2:c.1111C>T, XM_011512992.2:c.1111C>G, XM_011512992.1:c.1111C>T, XM_011512992.1:c.1111C>G, XM_047448586.1:c.1174C>T, XM_047448586.1:c.1174C>G, XM_047448588.1:c.898C>T, XM_047448588.1:c.898C>G, XM_047448589.1:c.898C>T, XM_047448589.1:c.898C>G, XM_047448591.1:c.1174C>T, XM_047448591.1:c.1174C>G, XR_007095707.1:n.1372C>T, XR_007095707.1:n.1372C>G, XM_047448587.1:c.1225C>T, XM_047448587.1:c.1225C>G, XM_047448590.1:c.1225C>T, XM_047448590.1:c.1225C>G, NP_064551.3:p.Arg409Ter, NP_064551.3:p.Arg409Gly, NP_001280202.1:p.Arg292Ter, NP_001280202.1:p.Arg292Gly, NP_001350809.1:p.Arg300Ter, NP_001350809.1:p.Arg300Gly, XP_011511294.1:p.Arg371Ter, XP_011511294.1:p.Arg371Gly, XP_047304542.1:p.Arg392Ter, XP_047304542.1:p.Arg392Gly, XP_047304544.1:p.Arg300Ter, XP_047304544.1:p.Arg300Gly, XP_047304545.1:p.Arg300Ter, XP_047304545.1:p.Arg300Gly, XP_047304547.1:p.Arg392Ter, XP_047304547.1:p.Arg392Gly, XP_047304543.1:p.Arg409Ter, XP_047304543.1:p.Arg409Gly, XP_047304546.1:p.Arg409Ter, XP_047304546.1:p.Arg409Gly

Select item 14827639408.

rs1482763940 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:183071003 (GRCh38)
3:182788791 (GRCh37)
Canonical SPDI:: NC_000003.12:183071002:G:A
Gene:: MCCC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_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_000003.12:g.183071003G>A, NC_000003.11:g.182788791G>A, NG_008100.1:g.33575C>T, NM_020166.5:c.757C>T, NM_020166.4:c.757C>T, NM_020166.3:c.757C>T, NR_120640.2:n.1424C>T, NR_120640.1:n.1424C>T, NM_001293273.2:c.406C>T, NM_001293273.1:c.406C>T, NR_120639.2:n.580C>T, NR_120639.1:n.671C>T, NM_001363880.1:c.430C>T, XM_011512992.3:c.643C>T, XM_011512992.2:c.643C>T, XM_011512992.1:c.643C>T, XM_047448586.1:c.706C>T, XM_047448588.1:c.430C>T, XM_047448589.1:c.430C>T, XM_047448591.1:c.706C>T, XR_007095707.1:n.904C>T, XM_047448587.1:c.757C>T, XM_047448590.1:c.757C>T, NP_064551.3:p.Pro253Ser, NP_001280202.1:p.Pro136Ser, NP_001350809.1:p.Pro144Ser, XP_011511294.1:p.Pro215Ser, XP_047304542.1:p.Pro236Ser, XP_047304544.1:p.Pro144Ser, XP_047304545.1:p.Pro144Ser, XP_047304547.1:p.Pro236Ser, XP_047304543.1:p.Pro253Ser, XP_047304546.1:p.Pro253Ser

Select item 14772297209.

rs1477229720 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:183020161 (GRCh38)
3:182737949 (GRCh37)
Canonical SPDI:: NC_000003.12:183020160:G:A
Gene:: MCCC1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000003.12:g.183020161G>A, NC_000003.11:g.182737949G>A, NG_008100.1:g.84417C>T, NM_020166.5:c.1946C>T, NM_020166.4:c.1946C>T, NM_020166.3:c.1946C>T, NR_120640.2:n.2493C>T, NR_120640.1:n.2493C>T, NM_001293273.2:c.1595C>T, NM_001293273.1:c.1595C>T, NR_120639.2:n.1719C>T, NR_120639.1:n.1810C>T, NM_001363880.1:c.1619C>T, XM_011512992.3:c.1832C>T, XM_011512992.2:c.1832C>T, XM_011512992.1:c.1832C>T, XM_047448586.1:c.1895C>T, XM_047448588.1:c.1619C>T, XM_047448589.1:c.1619C>T, NP_064551.3:p.Pro649Leu, NP_001280202.1:p.Pro532Leu, NP_001350809.1:p.Pro540Leu, XP_011511294.1:p.Pro611Leu, XP_047304542.1:p.Pro632Leu, XP_047304544.1:p.Pro540Leu, XP_047304545.1:p.Pro540Leu

Select item 147604348110.

rs1476043481 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:183071270 (GRCh38)
3:182789058 (GRCh37)
Canonical SPDI:: NC_000003.12:183071269:T:C
Gene:: MCCC1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.183071270T>C, NC_000003.11:g.182789058T>C, NG_008100.1:g.33308A>G, NM_020166.5:c.579A>G, NM_020166.4:c.579A>G, NM_020166.3:c.579A>G, NR_120640.2:n.1246A>G, NR_120640.1:n.1246A>G, NM_001293273.2:c.228A>G, NM_001293273.1:c.228A>G, NR_120639.2:n.402A>G, NR_120639.1:n.493A>G, NM_001363880.1:c.252A>G, XM_011512992.3:c.465A>G, XM_011512992.2:c.465A>G, XM_011512992.1:c.465A>G, XM_047448586.1:c.528A>G, XM_047448588.1:c.252A>G, XM_047448589.1:c.252A>G, XM_047448591.1:c.528A>G, XR_007095707.1:n.726A>G, XM_047448587.1:c.579A>G, XM_047448590.1:c.579A>G

Select item 147579779811.

rs1475797798 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:183034027 (GRCh38)
3:182751815 (GRCh37)
Canonical SPDI:: NC_000003.12:183034026:A:G
Gene:: MCCC1 (Varview), LOC124906309 (Varview)
Functional Consequence:: upstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.183034027A>G, NC_000003.11:g.182751815A>G, NG_008100.1:g.70551T>C, NM_020166.5:c.1645T>C, NM_020166.4:c.1645T>C, NM_020166.3:c.1645T>C, NR_120640.2:n.2095T>C, NR_120640.1:n.2095T>C, NM_001293273.2:c.1294T>C, NM_001293273.1:c.1294T>C, NR_120639.2:n.1468T>C, NR_120639.1:n.1559T>C, NM_001363880.1:c.1318T>C, XM_011512992.3:c.1531T>C, XM_011512992.2:c.1531T>C, XM_011512992.1:c.1531T>C, XM_047448586.1:c.1594T>C, XM_047448588.1:c.1318T>C, XM_047448589.1:c.1318T>C, XM_047448591.1:c.*9T>C, XR_007095707.1:n.1792T>C, XM_047448587.1:c.1645T>C, XM_047448590.1:c.*9T>C, NP_064551.3:p.Tyr549His, NP_001280202.1:p.Tyr432His, NP_001350809.1:p.Tyr440His, XP_011511294.1:p.Tyr511His, XP_047304542.1:p.Tyr532His, XP_047304544.1:p.Tyr440His, XP_047304545.1:p.Tyr440His, XP_047304543.1:p.Tyr549His

Select item 147416032812.

rs1474160328 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:183037408 (GRCh38)
3:182755196 (GRCh37)
Canonical SPDI:: NC_000003.12:183037407:G:A,NC_000003.12:183037407:G:T
Gene:: MCCC1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,non_coding_transcript_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.183037408G>A, NC_000003.12:g.183037408G>T, NC_000003.11:g.182755196G>A, NC_000003.11:g.182755196G>T, NG_008100.1:g.67170C>T, NG_008100.1:g.67170C>A, NM_020166.5:c.1404C>T, NM_020166.5:c.1404C>A, NM_020166.4:c.1404C>T, NM_020166.4:c.1404C>A, NM_020166.3:c.1404C>T, NM_020166.3:c.1404C>A, NM_001293273.2:c.1053C>T, NM_001293273.2:c.1053C>A, NM_001293273.1:c.1053C>T, NM_001293273.1:c.1053C>A, NR_120639.2:n.1227C>T, NR_120639.2:n.1227C>A, NR_120639.1:n.1318C>T, NR_120639.1:n.1318C>A, NM_001363880.1:c.1077C>T, NM_001363880.1:c.1077C>A, XM_011512992.3:c.1290C>T, XM_011512992.3:c.1290C>A, XM_011512992.2:c.1290C>T, XM_011512992.2:c.1290C>A, XM_011512992.1:c.1290C>T, XM_011512992.1:c.1290C>A, XM_047448586.1:c.1353C>T, XM_047448586.1:c.1353C>A, XM_047448588.1:c.1077C>T, XM_047448588.1:c.1077C>A, XM_047448589.1:c.1077C>T, XM_047448589.1:c.1077C>A, XR_007095707.1:n.1551C>T, XR_007095707.1:n.1551C>A, XM_047448587.1:c.1404C>T, XM_047448587.1:c.1404C>A, NP_064551.3:p.Asp468Glu, NP_001280202.1:p.Asp351Glu, NP_001350809.1:p.Asp359Glu, XP_011511294.1:p.Asp430Glu, XP_047304542.1:p.Asp451Glu, XP_047304544.1:p.Asp359Glu, XP_047304545.1:p.Asp359Glu, XP_047304543.1:p.Asp468Glu

Select item 147333904313.

rs1473339043 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:183041615 (GRCh38)
3:182759403 (GRCh37)
Canonical SPDI:: NC_000003.12:183041614:T:C
Gene:: MCCC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.183041615T>C, NC_000003.11:g.182759403T>C, NG_008100.1:g.62963A>G, NM_020166.5:c.1219A>G, NM_020166.4:c.1219A>G, NM_020166.3:c.1219A>G, NR_120640.2:n.1886A>G, NR_120640.1:n.1886A>G, NM_001293273.2:c.868A>G, NM_001293273.1:c.868A>G, NR_120639.2:n.1042A>G, NR_120639.1:n.1133A>G, NM_001363880.1:c.892A>G, XM_011512992.3:c.1105A>G, XM_011512992.2:c.1105A>G, XM_011512992.1:c.1105A>G, XM_047448586.1:c.1168A>G, XM_047448588.1:c.892A>G, XM_047448589.1:c.892A>G, XM_047448591.1:c.1168A>G, XR_007095707.1:n.1366A>G, XM_047448587.1:c.1219A>G, XM_047448590.1:c.1219A>G, NP_064551.3:p.Thr407Ala, NP_001280202.1:p.Thr290Ala, NP_001350809.1:p.Thr298Ala, XP_011511294.1:p.Thr369Ala, XP_047304542.1:p.Thr390Ala, XP_047304544.1:p.Thr298Ala, XP_047304545.1:p.Thr298Ala, XP_047304547.1:p.Thr390Ala, XP_047304543.1:p.Thr407Ala, XP_047304546.1:p.Thr407Ala

Select item 147186744914.

rs1471867449 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:183092461 (GRCh38)
3:182810249 (GRCh37)
Canonical SPDI:: NC_000003.12:183092460:T:G
Gene:: MCCC1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant,missense_variant,upstream_transcript_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)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.183092461T>G, NC_000003.11:g.182810249T>G, NG_008100.1:g.12117A>C, NM_020166.5:c.221A>C, NM_020166.4:c.221A>C, NM_020166.3:c.221A>C, NR_120640.2:n.888A>C, NR_120640.1:n.888A>C, XM_011512992.3:c.107A>C, XM_011512992.2:c.107A>C, XM_011512992.1:c.107A>C, XM_047448586.1:c.170A>C, XM_047448591.1:c.170A>C, XR_007095707.1:n.368A>C, XM_047448587.1:c.221A>C, XM_047448590.1:c.221A>C, NP_064551.3:p.Gln74Pro, XP_011511294.1:p.Gln36Pro, XP_047304542.1:p.Gln57Pro, XP_047304547.1:p.Gln57Pro, XP_047304543.1:p.Gln74Pro, XP_047304546.1:p.Gln74Pro

Select item 147186647315.

rs1471866473 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:183057352 (GRCh38)
3:182775140 (GRCh37)
Canonical SPDI:: NC_000003.12:183057351:C:T
Gene:: MCCC1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.0003/1 (KOREAN)
HGVS:: NC_000003.12:g.183057352C>T, NC_000003.11:g.182775140C>T, NG_008100.1:g.47226G>A, NM_020166.5:c.832G>A, NM_020166.4:c.832G>A, NM_020166.3:c.832G>A, NR_120640.2:n.1499G>A, NR_120640.1:n.1499G>A, NM_001293273.2:c.481G>A, NM_001293273.1:c.481G>A, NR_120639.2:n.655G>A, NR_120639.1:n.746G>A, NM_001363880.1:c.505G>A, XM_011512992.3:c.718G>A, XM_011512992.2:c.718G>A, XM_011512992.1:c.718G>A, XM_047448586.1:c.781G>A, XM_047448588.1:c.505G>A, XM_047448589.1:c.505G>A, XM_047448591.1:c.781G>A, XR_007095707.1:n.979G>A, XM_047448587.1:c.832G>A, XM_047448590.1:c.832G>A, NP_064551.3:p.Val278Met, NP_001280202.1:p.Val161Met, NP_001350809.1:p.Val169Met, XP_011511294.1:p.Val240Met, XP_047304542.1:p.Val261Met, XP_047304544.1:p.Val169Met, XP_047304545.1:p.Val169Met, XP_047304547.1:p.Val261Met, XP_047304543.1:p.Val278Met, XP_047304546.1:p.Val278Met

Select item 147180474416.

rs1471804744 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:183022423 (GRCh38)
3:182740211 (GRCh37)
Canonical SPDI:: NC_000003.12:183022422:A:T
Gene:: MCCC1 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.183022423A>T, NC_000003.11:g.182740211A>T, NG_008100.1:g.82155T>A, NM_020166.5:c.1863T>A, NM_020166.4:c.1863T>A, NM_020166.3:c.1863T>A, NR_120640.2:n.2410T>A, NR_120640.1:n.2410T>A, NM_001293273.2:c.1512T>A, NM_001293273.1:c.1512T>A, NR_120639.2:n.1636T>A, NR_120639.1:n.1727T>A, NM_001363880.1:c.1536T>A, XM_011512992.3:c.1749T>A, XM_011512992.2:c.1749T>A, XM_011512992.1:c.1749T>A, XM_047448586.1:c.1812T>A, XM_047448588.1:c.1536T>A, XM_047448589.1:c.1536T>A, XM_047448587.1:c.*127T>A, NP_064551.3:p.Phe621Leu, NP_001280202.1:p.Phe504Leu, NP_001350809.1:p.Phe512Leu, XP_011511294.1:p.Phe583Leu, XP_047304542.1:p.Phe604Leu, XP_047304544.1:p.Phe512Leu, XP_047304545.1:p.Phe512Leu

Select item 146050749317.

rs1460507493 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:183099437 (GRCh38)
3:182817225 (GRCh37)
Canonical SPDI:: NC_000003.12:183099436:C:T
Gene:: MCCC1 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant,intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000003.12:g.183099437C>T, NC_000003.11:g.182817225C>T, NG_008100.1:g.5141G>A, NM_020166.5:c.4G>A, NM_020166.4:c.4G>A, NM_020166.3:c.4G>A, NM_001293273.2:c.-89G>A, NM_001293273.1:c.-89G>A, NR_120639.2:n.60G>A, NR_120639.1:n.151G>A, NM_001363880.1:c.-187G>A, XR_007095707.1:n.151G>A, XM_047448587.1:c.4G>A, XM_047448590.1:c.4G>A, NP_064551.3:p.Ala2Thr, XP_047304543.1:p.Ala2Thr, XP_047304546.1:p.Ala2Thr

Select item 146013304718.

rs1460133047 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 3:183045495 (GRCh38)
3:182763283 (GRCh37)
Canonical SPDI:: NC_000003.12:183045494:A:C,NC_000003.12:183045494:A:G
Gene:: MCCC1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.183045495A>C, NC_000003.12:g.183045495A>G, NC_000003.11:g.182763283A>C, NC_000003.11:g.182763283A>G, NG_008100.1:g.59083T>G, NG_008100.1:g.59083T>C, NM_020166.5:c.1001T>G, NM_020166.5:c.1001T>C, NM_020166.4:c.1001T>G, NM_020166.4:c.1001T>C, NM_020166.3:c.1001T>G, NM_020166.3:c.1001T>C, NR_120640.2:n.1668T>G, NR_120640.2:n.1668T>C, NR_120640.1:n.1668T>G, NR_120640.1:n.1668T>C, NM_001293273.2:c.650T>G, NM_001293273.2:c.650T>C, NM_001293273.1:c.650T>G, NM_001293273.1:c.650T>C, NR_120639.2:n.824T>G, NR_120639.2:n.824T>C, NR_120639.1:n.915T>G, NR_120639.1:n.915T>C, NM_001363880.1:c.674T>G, NM_001363880.1:c.674T>C, XM_011512992.3:c.887T>G, XM_011512992.3:c.887T>C, XM_011512992.2:c.887T>G, XM_011512992.2:c.887T>C, XM_011512992.1:c.887T>G, XM_011512992.1:c.887T>C, XM_047448586.1:c.950T>G, XM_047448586.1:c.950T>C, XM_047448588.1:c.674T>G, XM_047448588.1:c.674T>C, XM_047448589.1:c.674T>G, XM_047448589.1:c.674T>C, XM_047448591.1:c.950T>G, XM_047448591.1:c.950T>C, XR_007095707.1:n.1148T>G, XR_007095707.1:n.1148T>C, XM_047448587.1:c.1001T>G, XM_047448587.1:c.1001T>C, XM_047448590.1:c.1001T>G, XM_047448590.1:c.1001T>C, NP_064551.3:p.Met334Arg, NP_064551.3:p.Met334Thr, NP_001280202.1:p.Met217Arg, NP_001280202.1:p.Met217Thr, NP_001350809.1:p.Met225Arg, NP_001350809.1:p.Met225Thr, XP_011511294.1:p.Met296Arg, XP_011511294.1:p.Met296Thr, XP_047304542.1:p.Met317Arg, XP_047304542.1:p.Met317Thr, XP_047304544.1:p.Met225Arg, XP_047304544.1:p.Met225Thr, XP_047304545.1:p.Met225Arg, XP_047304545.1:p.Met225Thr, XP_047304547.1:p.Met317Arg, XP_047304547.1:p.Met317Thr, XP_047304543.1:p.Met334Arg, XP_047304543.1:p.Met334Thr, XP_047304546.1:p.Met334Arg, XP_047304546.1:p.Met334Thr

Select item 145968895819.

rs1459688958 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:183037345 (GRCh38)
3:182755133 (GRCh37)
Canonical SPDI:: NC_000003.12:183037344:G:A
Gene:: MCCC1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.183037345G>A, NC_000003.11:g.182755133G>A, NG_008100.1:g.67233C>T, NM_020166.5:c.1467C>T, NM_020166.4:c.1467C>T, NM_020166.3:c.1467C>T, NM_001293273.2:c.1116C>T, NM_001293273.1:c.1116C>T, NR_120639.2:n.1290C>T, NR_120639.1:n.1381C>T, NM_001363880.1:c.1140C>T, XM_011512992.3:c.1353C>T, XM_011512992.2:c.1353C>T, XM_011512992.1:c.1353C>T, XM_047448586.1:c.1416C>T, XM_047448588.1:c.1140C>T, XM_047448589.1:c.1140C>T, XR_007095707.1:n.1614C>T, XM_047448587.1:c.1467C>T

Select item 145877487720.

rs1458774877 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:183015441 (GRCh38)
3:182733229 (GRCh37)
Canonical SPDI:: NC_000003.12:183015440:T:C
Gene:: MCCC1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.183015441T>C, NC_000003.11:g.182733229T>C, NG_008100.1:g.89137A>G, NM_020166.5:c.2175A>G, NM_020166.4:c.2175A>G, NM_020166.3:c.2175A>G, NR_120640.2:n.2722A>G, NR_120640.1:n.2722A>G, NM_001293273.2:c.1824A>G, NM_001293273.1:c.1824A>G, NR_120639.2:n.1948A>G, NR_120639.1:n.2039A>G, NM_001363880.1:c.1848A>G, XM_011512992.3:c.2061A>G, XM_011512992.2:c.2061A>G, XM_011512992.1:c.2061A>G, XM_047448586.1:c.2124A>G, XM_047448588.1:c.1848A>G, XM_047448589.1:c.1848A>G

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