SNP Links for Protein (Select 117938326) - SNP

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:196515171 (GRCh38)
3:196242042 (GRCh37)
Canonical SPDI:: NC_000003.12:196515170:C:T
Gene:: SMCO1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.196515171C>T, NC_000003.11:g.196242042C>T, NM_001077657.3:c.39G>A, NM_001077657.2:c.39G>A, NM_001077657.1:c.39G>A, NM_001320473.2:c.-42G>A, NM_001320473.1:c.-42G>A

Select item 14553894178.

rs1455389417 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:196509654 (GRCh38)
3:196236525 (GRCh37)
Canonical SPDI:: NC_000003.12:196509653:G:A
Gene:: SMCO1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000003.12:g.196509654G>A, NC_000003.11:g.196236525G>A, NM_001077657.3:c.66C>T, NM_001077657.2:c.66C>T, NM_001077657.1:c.66C>T, XM_024453435.2:c.60C>T, XM_024453435.1:c.60C>T, NM_001320473.2:c.42C>T, NM_001320473.1:c.42C>T

Select item 14516007239.

rs1451600723 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:196508018 (GRCh38)
3:196234889 (GRCh37)
Canonical SPDI:: NC_000003.12:196508017:T:C
Gene:: SMCO1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000003.12:g.196508018T>C, NC_000003.11:g.196234889T>C, NG_023425.1:g.751A>G, NM_001077657.3:c.514A>G, NM_001077657.2:c.514A>G, NM_001077657.1:c.514A>G, XM_024453435.2:c.508A>G, XM_024453435.1:c.508A>G, NM_001320473.2:c.490A>G, NM_001320473.1:c.490A>G, NP_001071125.1:p.Met172Val, XP_024309203.1:p.Met170Val, NP_001307402.1:p.Met164Val

Select item 144962125510.

rs1449621255 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:196509582 (GRCh38)
3:196236453 (GRCh37)
Canonical SPDI:: NC_000003.12:196509581:A:G
Gene:: SMCO1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000023/6 (TOPMED)
G=0.000212/4 (TOMMO)
HGVS:: NC_000003.12:g.196509582A>G, NC_000003.11:g.196236453A>G, NM_001077657.3:c.138T>C, NM_001077657.2:c.138T>C, NM_001077657.1:c.138T>C, XM_024453435.2:c.132T>C, XM_024453435.1:c.132T>C, NM_001320473.2:c.114T>C, NM_001320473.1:c.114T>C

Select item 144609616011.

rs1446096160 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:196509591 (GRCh38)
3:196236462 (GRCh37)
Canonical SPDI:: NC_000003.12:196509590:G:A
Gene:: SMCO1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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.196509591G>A, NC_000003.11:g.196236462G>A, NM_001077657.3:c.129C>T, NM_001077657.2:c.129C>T, NM_001077657.1:c.129C>T, XM_024453435.2:c.123C>T, XM_024453435.1:c.123C>T, NM_001320473.2:c.105C>T, NM_001320473.1:c.105C>T

Select item 144030560112.

rs1440305601 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:196508321 (GRCh38)
3:196235192 (GRCh37)
Canonical SPDI:: NC_000003.12:196508320:T:C
Gene:: SMCO1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.196508321T>C, NC_000003.11:g.196235192T>C, NG_023425.1:g.448A>G, NM_001077657.3:c.211A>G, NM_001077657.2:c.211A>G, NM_001077657.1:c.211A>G, XM_024453435.2:c.205A>G, XM_024453435.1:c.205A>G, NM_001320473.2:c.187A>G, NM_001320473.1:c.187A>G, NP_001071125.1:p.Met71Val, XP_024309203.1:p.Met69Val, NP_001307402.1:p.Met63Val

Select item 143379839713.

rs1433798397 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:196509525 (GRCh38)
3:196236396 (GRCh37)
Canonical SPDI:: NC_000003.12:196509524:T:C
Gene:: SMCO1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.196509525T>C, NC_000003.11:g.196236396T>C, NM_001077657.3:c.195A>G, NM_001077657.2:c.195A>G, NM_001077657.1:c.195A>G, XM_024453435.2:c.189A>G, XM_024453435.1:c.189A>G, NM_001320473.2:c.171A>G, NM_001320473.1:c.171A>G

Select item 143006304314.

rs1430063043 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:196509605 (GRCh38)
3:196236476 (GRCh37)
Canonical SPDI:: NC_000003.12:196509604:G:A
Gene:: SMCO1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000003.12:g.196509605G>A, NC_000003.11:g.196236476G>A, NM_001077657.3:c.115C>T, NM_001077657.2:c.115C>T, NM_001077657.1:c.115C>T, XM_024453435.2:c.109C>T, XM_024453435.1:c.109C>T, NM_001320473.2:c.91C>T, NM_001320473.1:c.91C>T

Select item 142757781115.

rs1427577811 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:196507890 (GRCh38)
3:196234761 (GRCh37)
Canonical SPDI:: NC_000003.12:196507889:G:A,NC_000003.12:196507889:G:C
Gene:: SMCO1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.196507890G>A, NC_000003.12:g.196507890G>C, NC_000003.11:g.196234761G>A, NC_000003.11:g.196234761G>C, NG_023425.1:g.879C>T, NG_023425.1:g.879C>G, NM_001077657.3:c.642C>T, NM_001077657.3:c.642C>G, NM_001077657.2:c.642C>T, NM_001077657.2:c.642C>G, NM_001077657.1:c.642C>T, NM_001077657.1:c.642C>G, XM_024453435.2:c.636C>T, XM_024453435.2:c.636C>G, XM_024453435.1:c.636C>T, XM_024453435.1:c.636C>G, NM_001320473.2:c.618C>T, NM_001320473.2:c.618C>G, NM_001320473.1:c.618C>T, NM_001320473.1:c.618C>G, NP_001071125.1:p.Asn214Lys, XP_024309203.1:p.Asn212Lys, NP_001307402.1:p.Asn206Lys

Select item 142125551916.

rs1421255519 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:196508305 (GRCh38)
3:196235176 (GRCh37)
Canonical SPDI:: NC_000003.12:196508304:A:G
Gene:: SMCO1 (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=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.196508305A>G, NC_000003.11:g.196235176A>G, NG_023425.1:g.464T>C, NM_001077657.3:c.227T>C, NM_001077657.2:c.227T>C, NM_001077657.1:c.227T>C, XM_024453435.2:c.221T>C, XM_024453435.1:c.221T>C, NM_001320473.2:c.203T>C, NM_001320473.1:c.203T>C, NP_001071125.1:p.Leu76Ser, XP_024309203.1:p.Leu74Ser, NP_001307402.1:p.Leu68Ser

Select item 141886571317.

rs1418865713 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:196507984 (GRCh38)
3:196234855 (GRCh37)
Canonical SPDI:: NC_000003.12:196507983:A:C
Gene:: SMCO1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.196507984A>C, NC_000003.11:g.196234855A>C, NG_023425.1:g.785T>G, NM_001077657.3:c.548T>G, NM_001077657.2:c.548T>G, NM_001077657.1:c.548T>G, XM_024453435.2:c.542T>G, XM_024453435.1:c.542T>G, NM_001320473.2:c.524T>G, NM_001320473.1:c.524T>G, NP_001071125.1:p.Leu183Arg, XP_024309203.1:p.Leu181Arg, NP_001307402.1:p.Leu175Arg

Select item 141674482418.

rs1416744824 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:196508319 (GRCh38)
3:196235190 (GRCh37)
Canonical SPDI:: NC_000003.12:196508318:C:T
Gene:: SMCO1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000013/3 (GnomAD_exomes)
HGVS:: NC_000003.12:g.196508319C>T, NC_000003.11:g.196235190C>T, NG_023425.1:g.450G>A, NM_001077657.3:c.213G>A, NM_001077657.2:c.213G>A, NM_001077657.1:c.213G>A, XM_024453435.2:c.207G>A, XM_024453435.1:c.207G>A, NM_001320473.2:c.189G>A, NM_001320473.1:c.189G>A, NP_001071125.1:p.Met71Ile, XP_024309203.1:p.Met69Ile, NP_001307402.1:p.Met63Ile

Select item 141483618219.

rs1414836182 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:196515173 (GRCh38)
3:196242044 (GRCh37)
Canonical SPDI:: NC_000003.12:196515172:C:G
Gene:: SMCO1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (KOREAN)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.196515173C>G, NC_000003.11:g.196242044C>G, NM_001077657.3:c.37G>C, NM_001077657.2:c.37G>C, NM_001077657.1:c.37G>C, NM_001320473.2:c.-44G>C, NM_001320473.1:c.-44G>C, NP_001071125.1:p.Glu13Gln

Select item 141385571920.

rs1413855719 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:196515160 (GRCh38)
3:196242031 (GRCh37)
Canonical SPDI:: NC_000003.12:196515159:C:T
Gene:: SMCO1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.196515160C>T, NC_000003.11:g.196242031C>T, NM_001077657.3:c.50G>A, NM_001077657.2:c.50G>A, NM_001077657.1:c.50G>A, NM_001320473.2:c.-31G>A, NM_001320473.1:c.-31G>A, NP_001071125.1:p.Arg17Lys

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