SNP Links for Protein (Select 974141082) - SNP

Links from Protein

Items: 1 to 20 of 290

<< First< Prev

Page of 15

Next >Last >>

Select item 14909495921.

rs1490949592 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 6:42963660 (GRCh38)
6:42931398 (GRCh37)
Canonical SPDI:: NC_000006.12:42963659:C:A,NC_000006.12:42963659:C:G
Gene:: PEX6 (Varview), GNMT (Varview), CNPY3-GNMT (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0.000028/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.42963660C>A, NC_000006.12:g.42963660C>G, NC_000006.11:g.42931398C>A, NC_000006.11:g.42931398C>G, NG_008370.1:g.20584G>T, NG_008370.1:g.20584G>C, NG_008396.1:g.7899C>A, NG_008396.1:g.7899C>G, NM_018960.6:c.842C>A, NM_018960.6:c.842C>G, NM_018960.5:c.842C>A, NM_018960.5:c.842C>G, NM_018960.4:c.842C>A, NM_018960.4:c.842C>G, NM_001318865.2:c.785C>A, NM_001318865.2:c.785C>G, NM_001318865.1:c.785C>A, NM_001318865.1:c.785C>G, NR_134899.2:n.713C>A, NR_134899.2:n.713C>G, NR_134899.1:n.713C>A, NR_134899.1:n.713C>G, NM_001318856.2:c.644C>A, NM_001318856.2:c.644C>G, NM_001318856.1:c.644C>A, NM_001318856.1:c.644C>G, NM_001318857.2:c.659C>A, NM_001318857.2:c.659C>G, NM_001318857.1:c.659C>A, NM_001318857.1:c.659C>G, NR_134892.2:n.735C>A, NR_134892.2:n.735C>G, NR_134892.1:n.1085C>A, NR_134892.1:n.1085C>G, NR_134890.2:n.704C>A, NR_134890.2:n.704C>G, NR_134890.1:n.1054C>A, NR_134890.1:n.1054C>G, NM_001318858.2:c.551C>A, NM_001318858.2:c.551C>G, NM_001318858.1:c.551C>A, NM_001318858.1:c.551C>G, NR_134891.2:n.607C>A, NR_134891.2:n.607C>G, NR_134891.1:n.957C>A, NR_134891.1:n.957C>G, NP_061833.1:p.Thr281Asn, NP_061833.1:p.Thr281Ser, NP_001305794.1:p.Thr262Asn, NP_001305794.1:p.Thr262Ser, NP_001305785.1:p.Thr215Asn, NP_001305785.1:p.Thr215Ser, NP_001305786.1:p.Thr220Asn, NP_001305786.1:p.Thr220Ser, NP_001305787.1:p.Thr184Asn, NP_001305787.1:p.Thr184Ser

Select item 14620501552.

rs1462050155 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:42963338 (GRCh38)
6:42931076 (GRCh37)
Canonical SPDI:: NC_000006.12:42963337:C:T
Gene:: GNMT (Varview), CNPY3-GNMT (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.42963338C>T, NC_000006.11:g.42931076C>T, NG_008370.1:g.20906G>A, NG_008396.1:g.7577C>T, NM_018960.6:c.605C>T, NM_018960.5:c.605C>T, NM_018960.4:c.605C>T, NM_001318865.2:c.548C>T, NM_001318865.1:c.548C>T, NR_134899.2:n.476C>T, NR_134899.1:n.476C>T, NM_001318856.2:c.407C>T, NM_001318856.1:c.407C>T, NM_001318857.2:c.422C>T, NM_001318857.1:c.422C>T, NR_134892.2:n.498C>T, NR_134892.1:n.848C>T, NR_134890.2:n.467C>T, NR_134890.1:n.817C>T, NM_001318858.2:c.314C>T, NM_001318858.1:c.314C>T, NR_134891.2:n.370C>T, NR_134891.1:n.720C>T, NP_061833.1:p.Thr202Ile, NP_001305794.1:p.Thr183Ile, NP_001305785.1:p.Thr136Ile, NP_001305786.1:p.Thr141Ile, NP_001305787.1:p.Thr105Ile

Select item 14594956413.

rs1459495641 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:42963541 (GRCh38)
6:42931279 (GRCh37)
Canonical SPDI:: NC_000006.12:42963540:C:G
Gene:: PEX6 (Varview), GNMT (Varview), CNPY3-GNMT (Varview)
Functional Consequence:: 500B_downstream_variant,non_coding_transcript_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.42963541C>G, NC_000006.11:g.42931279C>G, NG_008370.1:g.20703G>C, NG_008396.1:g.7780C>G, NM_018960.6:c.723C>G, NM_018960.5:c.723C>G, NM_018960.4:c.723C>G, NM_001318865.2:c.666C>G, NM_001318865.1:c.666C>G, NR_134899.2:n.594C>G, NR_134899.1:n.594C>G, NM_001318856.2:c.525C>G, NM_001318856.1:c.525C>G, NM_001318857.2:c.540C>G, NM_001318857.1:c.540C>G, NR_134892.2:n.616C>G, NR_134892.1:n.966C>G, NR_134890.2:n.585C>G, NR_134890.1:n.935C>G, NM_001318858.2:c.432C>G, NM_001318858.1:c.432C>G, NR_134891.2:n.488C>G, NR_134891.1:n.838C>G, NP_061833.1:p.Phe241Leu, NP_001305794.1:p.Phe222Leu, NP_001305785.1:p.Phe175Leu, NP_001305786.1:p.Phe180Leu, NP_001305787.1:p.Phe144Leu

Select item 14582754594.

rs1458275459 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:42960910 (GRCh38)
6:42928648 (GRCh37)
Canonical SPDI:: NC_000006.12:42960909:G:A
Gene:: GNMT (Varview), CNPY3-GNMT (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,intron_variant,stop_gained
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.42960910G>A, NC_000006.11:g.42928648G>A, NG_008396.1:g.5149G>A, NM_018960.6:c.143G>A, NM_018960.5:c.143G>A, NM_018960.4:c.143G>A, NM_001318865.2:c.143G>A, NM_001318865.1:c.143G>A, NR_134899.2:n.157G>A, NR_134899.1:n.157G>A, NP_061833.1:p.Trp48Ter, NP_001305794.1:p.Trp48Ter

Select item 14562625405.

rs1456262540 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:42960897 (GRCh38)
6:42928635 (GRCh37)
Canonical SPDI:: NC_000006.12:42960896:G:A
Gene:: GNMT (Varview), CNPY3-GNMT (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by cluster
HGVS:: NC_000006.12:g.42960897G>A, NC_000006.11:g.42928635G>A, NG_008396.1:g.5136G>A, NM_018960.6:c.130G>A, NM_018960.5:c.130G>A, NM_018960.4:c.130G>A, NM_001318865.2:c.130G>A, NM_001318865.1:c.130G>A, NR_134899.2:n.144G>A, NR_134899.1:n.144G>A, NP_061833.1:p.Glu44Lys, NP_001305794.1:p.Glu44Lys

Select item 14536345856.

rs1453634585 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:42960941 (GRCh38)
6:42928679 (GRCh37)
Canonical SPDI:: NC_000006.12:42960940:C:G
Gene:: GNMT (Varview), CNPY3-GNMT (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.42960941C>G, NC_000006.11:g.42928679C>G, NG_008396.1:g.5180C>G, NM_018960.6:c.174C>G, NM_018960.5:c.174C>G, NM_018960.4:c.174C>G, NM_001318865.2:c.174C>G, NM_001318865.1:c.174C>G, NR_134899.2:n.188C>G, NR_134899.1:n.188C>G, NP_061833.1:p.Cys58Trp, NP_001305794.1:p.Cys58Trp

Select item 14437517827.

rs1443751782 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:42960932 (GRCh38)
6:42928670 (GRCh37)
Canonical SPDI:: NC_000006.12:42960931:G:A
Gene:: GNMT (Varview), CNPY3-GNMT (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000006.12:g.42960932G>A, NC_000006.11:g.42928670G>A, NG_008396.1:g.5171G>A, NM_018960.6:c.165G>A, NM_018960.5:c.165G>A, NM_018960.4:c.165G>A, NM_001318865.2:c.165G>A, NM_001318865.1:c.165G>A, NR_134899.2:n.179G>A, NR_134899.1:n.179G>A

Select item 14430619268.

rs1443061926 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:42962286 (GRCh38)
6:42930024 (GRCh37)
Canonical SPDI:: NC_000006.12:42962285:A:T
Gene:: GNMT (Varview), CNPY3-GNMT (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.42962286A>T, NC_000006.11:g.42930024A>T, NG_008370.1:g.21958T>A, NG_008396.1:g.6525A>T, NM_018960.6:c.281A>T, NM_018960.5:c.281A>T, NM_018960.4:c.281A>T, NM_001318865.2:c.281A>T, NM_001318865.1:c.281A>T, NR_134899.2:n.295A>T, NR_134899.1:n.295A>T, NM_001318856.2:c.83A>T, NM_001318856.1:c.83A>T, NR_134892.2:n.317A>T, NR_134892.1:n.667A>T, NP_061833.1:p.Tyr94Phe, NP_001305794.1:p.Tyr94Phe, NP_001305785.1:p.Tyr28Phe

Select item 14403850059.

rs1440385005 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:42960847 (GRCh38)
6:42928585 (GRCh37)
Canonical SPDI:: NC_000006.12:42960846:C:A
Gene:: GNMT (Varview), CNPY3-GNMT (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000006.12:g.42960847C>A, NC_000006.11:g.42928585C>A, NG_008396.1:g.5086C>A, NM_018960.6:c.80C>A, NM_018960.5:c.80C>A, NM_018960.4:c.80C>A, NM_001318865.2:c.80C>A, NM_001318865.1:c.80C>A, NR_134899.2:n.94C>A, NR_134899.1:n.94C>A, NP_061833.1:p.Ala27Glu, NP_001305794.1:p.Ala27Glu

Select item 143945204110.

rs1439452041 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:42963582 (GRCh38)
6:42931320 (GRCh37)
Canonical SPDI:: NC_000006.12:42963581:A:G
Gene:: PEX6 (Varview), GNMT (Varview), CNPY3-GNMT (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.42963582A>G, NC_000006.11:g.42931320A>G, NG_008370.1:g.20662T>C, NG_008396.1:g.7821A>G, NM_018960.6:c.764A>G, NM_018960.5:c.764A>G, NM_018960.4:c.764A>G, NM_001318865.2:c.707A>G, NM_001318865.1:c.707A>G, NR_134899.2:n.635A>G, NR_134899.1:n.635A>G, NM_001318856.2:c.566A>G, NM_001318856.1:c.566A>G, NM_001318857.2:c.581A>G, NM_001318857.1:c.581A>G, NR_134892.2:n.657A>G, NR_134892.1:n.1007A>G, NR_134890.2:n.626A>G, NR_134890.1:n.976A>G, NM_001318858.2:c.473A>G, NM_001318858.1:c.473A>G, NR_134891.2:n.529A>G, NR_134891.1:n.879A>G, NP_061833.1:p.Glu255Gly, NP_001305794.1:p.Glu236Gly, NP_001305785.1:p.Glu189Gly, NP_001305786.1:p.Glu194Gly, NP_001305787.1:p.Glu158Gly

Select item 143852701211.

rs1438527012 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:42962248 (GRCh38)
6:42929986 (GRCh37)
Canonical SPDI:: NC_000006.12:42962247:T:C
Gene:: GNMT (Varview), CNPY3-GNMT (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.42962248T>C, NC_000006.11:g.42929986T>C, NG_008370.1:g.21996A>G, NG_008396.1:g.6487T>C, NM_018960.6:c.243T>C, NM_018960.5:c.243T>C, NM_018960.4:c.243T>C, NM_001318865.2:c.243T>C, NM_001318865.1:c.243T>C, NR_134899.2:n.257T>C, NR_134899.1:n.257T>C, NM_001318856.2:c.45T>C, NM_001318856.1:c.45T>C, NR_134892.2:n.279T>C, NR_134892.1:n.629T>C

Select item 143699078312.

rs1436990783 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:42963554 (GRCh38)
6:42931292 (GRCh37)
Canonical SPDI:: NC_000006.12:42963553:T:C
Gene:: PEX6 (Varview), GNMT (Varview), CNPY3-GNMT (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.42963554T>C, NC_000006.11:g.42931292T>C, NG_008370.1:g.20690A>G, NG_008396.1:g.7793T>C, NM_018960.6:c.736T>C, NM_018960.5:c.736T>C, NM_018960.4:c.736T>C, NM_001318865.2:c.679T>C, NM_001318865.1:c.679T>C, NR_134899.2:n.607T>C, NR_134899.1:n.607T>C, NM_001318856.2:c.538T>C, NM_001318856.1:c.538T>C, NM_001318857.2:c.553T>C, NM_001318857.1:c.553T>C, NR_134892.2:n.629T>C, NR_134892.1:n.979T>C, NR_134890.2:n.598T>C, NR_134890.1:n.948T>C, NM_001318858.2:c.445T>C, NM_001318858.1:c.445T>C, NR_134891.2:n.501T>C, NR_134891.1:n.851T>C, NP_061833.1:p.Tyr246His, NP_001305794.1:p.Tyr227His, NP_001305785.1:p.Tyr180His, NP_001305786.1:p.Tyr185His, NP_001305787.1:p.Tyr149His

Select item 143667874313.

rs1436678743 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:42960786 (GRCh38)
6:42928524 (GRCh37)
Canonical SPDI:: NC_000006.12:42960785:C:T
Gene:: GNMT (Varview), CNPY3-GNMT (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.42960786C>T, NC_000006.11:g.42928524C>T, NG_008396.1:g.5025C>T, NM_018960.6:c.19C>T, NM_018960.5:c.19C>T, NM_018960.4:c.19C>T, NM_001318865.2:c.19C>T, NM_001318865.1:c.19C>T, NR_134899.2:n.33C>T, NR_134899.1:n.33C>T, NP_061833.1:p.Arg7Trp, NP_001305794.1:p.Arg7Trp

Select item 143500478214.

rs1435004782 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:42963186 (GRCh38)
6:42930924 (GRCh37)
Canonical SPDI:: NC_000006.12:42963185:C:T
Gene:: GNMT (Varview), CNPY3-GNMT (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.00005/1 (ALFA)
HGVS:: NC_000006.12:g.42963186C>T, NC_000006.11:g.42930924C>T, NG_008370.1:g.21058G>A, NG_008396.1:g.7425C>T, NM_018960.6:c.566C>T, NM_018960.5:c.566C>T, NM_018960.4:c.566C>T, NM_001318865.2:c.509C>T, NM_001318865.1:c.509C>T, NM_001318856.2:c.368C>T, NM_001318856.1:c.368C>T, NM_001318857.2:c.383C>T, NM_001318857.1:c.383C>T, NM_001318858.2:c.275C>T, NM_001318858.1:c.275C>T, NP_061833.1:p.Ala189Val, NP_001305794.1:p.Ala170Val, NP_001305785.1:p.Ala123Val, NP_001305786.1:p.Ala128Val, NP_001305787.1:p.Ala92Val

Select item 143165696515.

rs1431656965 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:42963641 (GRCh38)
6:42931379 (GRCh37)
Canonical SPDI:: NC_000006.12:42963640:C:A,NC_000006.12:42963640:C:T
Gene:: PEX6 (Varview), GNMT (Varview), CNPY3-GNMT (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.42963641C>A, NC_000006.12:g.42963641C>T, NC_000006.11:g.42931379C>A, NC_000006.11:g.42931379C>T, NG_008370.1:g.20603G>T, NG_008370.1:g.20603G>A, NG_008396.1:g.7880C>A, NG_008396.1:g.7880C>T, NM_018960.6:c.823C>A, NM_018960.6:c.823C>T, NM_018960.5:c.823C>A, NM_018960.5:c.823C>T, NM_018960.4:c.823C>A, NM_018960.4:c.823C>T, NM_001318865.2:c.766C>A, NM_001318865.2:c.766C>T, NM_001318865.1:c.766C>A, NM_001318865.1:c.766C>T, NR_134899.2:n.694C>A, NR_134899.2:n.694C>T, NR_134899.1:n.694C>A, NR_134899.1:n.694C>T, NM_001318856.2:c.625C>A, NM_001318856.2:c.625C>T, NM_001318856.1:c.625C>A, NM_001318856.1:c.625C>T, NM_001318857.2:c.640C>A, NM_001318857.2:c.640C>T, NM_001318857.1:c.640C>A, NM_001318857.1:c.640C>T, NR_134892.2:n.716C>A, NR_134892.2:n.716C>T, NR_134892.1:n.1066C>A, NR_134892.1:n.1066C>T, NR_134890.2:n.685C>A, NR_134890.2:n.685C>T, NR_134890.1:n.1035C>A, NR_134890.1:n.1035C>T, NM_001318858.2:c.532C>A, NM_001318858.2:c.532C>T, NM_001318858.1:c.532C>A, NM_001318858.1:c.532C>T, NR_134891.2:n.588C>A, NR_134891.2:n.588C>T, NR_134891.1:n.938C>A, NR_134891.1:n.938C>T, NP_061833.1:p.Pro275Thr, NP_061833.1:p.Pro275Ser, NP_001305794.1:p.Pro256Thr, NP_001305794.1:p.Pro256Ser, NP_001305785.1:p.Pro209Thr, NP_001305785.1:p.Pro209Ser, NP_001305786.1:p.Pro214Thr, NP_001305786.1:p.Pro214Ser, NP_001305787.1:p.Pro178Thr, NP_001305787.1:p.Pro178Ser

Select item 142968580216.

rs1429685802 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:42963199 (GRCh38)
6:42930937 (GRCh37)
Canonical SPDI:: NC_000006.12:42963198:G:A
Gene:: GNMT (Varview), CNPY3-GNMT (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.42963199G>A, NC_000006.11:g.42930937G>A, NG_008370.1:g.21045C>T, NG_008396.1:g.7438G>A, NM_018960.6:c.579G>A, NM_018960.5:c.579G>A, NM_018960.4:c.579G>A, NM_001318865.2:c.522G>A, NM_001318865.1:c.522G>A, NM_001318856.2:c.381G>A, NM_001318856.1:c.381G>A, NM_001318857.2:c.396G>A, NM_001318857.1:c.396G>A, NM_001318858.2:c.288G>A, NM_001318858.1:c.288G>A

Select item 142888417817.

rs1428884178 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:42962797 (GRCh38)
6:42930535 (GRCh37)
Canonical SPDI:: NC_000006.12:42962796:G:C
Gene:: GNMT (Varview), CNPY3-GNMT (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.42962797G>C, NC_000006.11:g.42930535G>C, NG_008370.1:g.21447C>G, NG_008396.1:g.7036G>C, NM_018960.6:c.370G>C, NM_018960.5:c.370G>C, NM_018960.4:c.370G>C, NM_001318865.2:c.370G>C, NM_001318865.1:c.370G>C, NR_134899.2:n.384G>C, NR_134899.1:n.384G>C, NM_001318856.2:c.172G>C, NM_001318856.1:c.172G>C, NM_001318857.2:c.187G>C, NM_001318857.1:c.187G>C, NR_134892.2:n.406G>C, NR_134892.1:n.756G>C, NR_134890.2:n.375G>C, NR_134890.1:n.725G>C, NM_001318858.2:c.187G>C, NM_001318858.1:c.187G>C, NR_134891.2:n.278G>C, NR_134891.1:n.628G>C, NP_061833.1:p.Asp124His, NP_001305794.1:p.Asp124His, NP_001305785.1:p.Asp58His, NP_001305786.1:p.Asp63His, NP_001305787.1:p.Asp63His

Select item 142669778018.

rs1426697780 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:42962283 (GRCh38)
6:42930021 (GRCh37)
Canonical SPDI:: NC_000006.12:42962282:A:C
Gene:: GNMT (Varview), CNPY3-GNMT (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.42962283A>C, NC_000006.11:g.42930021A>C, NG_008370.1:g.21961T>G, NG_008396.1:g.6522A>C, NM_018960.6:c.278A>C, NM_018960.5:c.278A>C, NM_018960.4:c.278A>C, NM_001318865.2:c.278A>C, NM_001318865.1:c.278A>C, NR_134899.2:n.292A>C, NR_134899.1:n.292A>C, NM_001318856.2:c.80A>C, NM_001318856.1:c.80A>C, NR_134892.2:n.314A>C, NR_134892.1:n.664A>C, NP_061833.1:p.Lys93Thr, NP_001305794.1:p.Lys93Thr, NP_001305785.1:p.Lys27Thr

Select item 142324569019.

rs1423245690 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:42962763 (GRCh38)
6:42930501 (GRCh37)
Canonical SPDI:: NC_000006.12:42962762:C:T
Gene:: GNMT (Varview), CNPY3-GNMT (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.42962763C>T, NC_000006.11:g.42930501C>T, NG_008370.1:g.21481G>A, NG_008396.1:g.7002C>T, NM_018960.6:c.336C>T, NM_018960.5:c.336C>T, NM_018960.4:c.336C>T, NM_001318865.2:c.336C>T, NM_001318865.1:c.336C>T, NR_134899.2:n.350C>T, NR_134899.1:n.350C>T, NM_001318856.2:c.138C>T, NM_001318856.1:c.138C>T, NM_001318857.2:c.153C>T, NM_001318857.1:c.153C>T, NR_134892.2:n.372C>T, NR_134892.1:n.722C>T, NR_134890.2:n.341C>T, NR_134890.1:n.691C>T, NM_001318858.2:c.153C>T, NM_001318858.1:c.153C>T, NR_134891.2:n.244C>T, NR_134891.1:n.594C>T

Select item 142197547720.

rs1421975477 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 6:42962254 (GRCh38)
6:42929993 (GRCh37)
Canonical SPDI:: NC_000006.12:42962254:A:AA
Gene:: GNMT (Varview), CNPY3-GNMT (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.42962255dup, NC_000006.11:g.42929993dup, NG_008370.1:g.21989dup, NG_008396.1:g.6494dup, NM_018960.6:c.250dup, NM_018960.5:c.250dup, NM_018960.4:c.250dup, NM_001318865.2:c.250dup, NM_001318865.1:c.250dup, NR_134899.2:n.264dup, NR_134899.1:n.264dup, NM_001318856.2:c.52dup, NM_001318856.1:c.52dup, NR_134892.2:n.286dup, NR_134892.1:n.636dup, NP_061833.1:p.Ser84fs, NP_001305794.1:p.Ser84fs, NP_001305785.1:p.Ser18fs

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 290

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity