SNP Links for Protein (Select 5174669) - SNP

Links from Protein

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Select item 14908826971.

rs1490882697 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:18246582 (GRCh38)
X:18264702 (GRCh37)
Canonical SPDI:: NC_000023.11:18246581:C:T
Gene:: SCML2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.18246582C>T, NC_000023.10:g.18264702C>T, NG_021431.2:g.113143G>A, NM_006089.3:c.1817G>A, NM_006089.2:c.1817G>A, NR_033717.2:n.1938G>A, NR_033717.1:n.1974G>A, XM_017029220.3:c.1817G>A, XM_017029220.2:c.1817G>A, XM_017029220.1:c.1817G>A, XM_017029222.2:c.1025G>A, XM_017029222.1:c.1025G>A, XM_017029219.2:c.1817G>A, XM_017029219.1:c.1817G>A, XM_006724458.1:c.1817G>A, NP_006080.1:p.Ser606Asn, XP_016884709.1:p.Ser606Asn, XP_016884711.1:p.Ser342Asn, XP_016884708.1:p.Ser606Asn, XP_006724521.1:p.Ser606Asn

Select item 14881898132.

rs1488189813 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:18241311 (GRCh38)
X:18259431 (GRCh37)
Canonical SPDI:: NC_000023.11:18241310:C:A
Gene:: SCML2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.18241311C>A, NC_000023.10:g.18259431C>A, NG_021431.2:g.118414G>T, NM_006089.3:c.2043G>T, NM_006089.2:c.2043G>T, NR_033717.2:n.2164G>T, NR_033717.1:n.2200G>T, XM_017029220.3:c.2043G>T, XM_017029220.2:c.2043G>T, XM_017029220.1:c.2043G>T, XM_017029222.2:c.1251G>T, XM_017029222.1:c.1251G>T, XM_017029219.2:c.2043G>T, XM_017029219.1:c.2043G>T, XM_006724458.1:c.*61G>T

Select item 14880114663.

rs1488011466 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:18265723 (GRCh38)
X:18283843 (GRCh37)
Canonical SPDI:: NC_000023.11:18265722:T:C
Gene:: SCML2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.18265723T>C, NC_000023.10:g.18283843T>C, NG_021431.2:g.94002A>G, NM_006089.3:c.810A>G, NM_006089.2:c.810A>G, NR_033717.2:n.931A>G, NR_033717.1:n.967A>G, XM_017029220.3:c.810A>G, XM_017029220.2:c.810A>G, XM_017029220.1:c.810A>G, XM_017029222.2:c.18A>G, XM_017029222.1:c.18A>G, XM_017029219.2:c.810A>G, XM_017029219.1:c.810A>G, XM_006724458.1:c.810A>G

Select item 14835856184.

rs1483585618 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:18305138 (GRCh38)
X:18323258 (GRCh37)
Canonical SPDI:: NC_000023.11:18305137:G:A
Gene:: SCML2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.18305138G>A, NC_000023.10:g.18323258G>A, NG_021431.2:g.54587C>T, NM_006089.3:c.564C>T, NM_006089.2:c.564C>T, NR_033717.2:n.685C>T, NR_033717.1:n.721C>T, XM_017029220.3:c.564C>T, XM_017029220.2:c.564C>T, XM_017029220.1:c.564C>T, XM_017029219.2:c.564C>T, XM_017029219.1:c.564C>T, XM_006724458.1:c.564C>T

Select item 14820129735.

rs1482012973 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:18256948 (GRCh38)
X:18275068 (GRCh37)
Canonical SPDI:: NC_000023.11:18256947:G:T
Gene:: SCML2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.18256948G>T, NC_000023.10:g.18275068G>T, NG_021431.2:g.102777C>A, NM_006089.3:c.1356C>A, NM_006089.2:c.1356C>A, NR_033717.2:n.1477C>A, NR_033717.1:n.1513C>A, XM_017029220.3:c.1356C>A, XM_017029220.2:c.1356C>A, XM_017029220.1:c.1356C>A, XM_017029222.2:c.564C>A, XM_017029222.1:c.564C>A, XM_017029219.2:c.1356C>A, XM_017029219.1:c.1356C>A, XM_006724458.1:c.1356C>A, NP_006080.1:p.Phe452Leu, XP_016884709.1:p.Phe452Leu, XP_016884711.1:p.Phe188Leu, XP_016884708.1:p.Phe452Leu, XP_006724521.1:p.Phe452Leu

Select item 14812929006.

rs1481292900 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:18256880 (GRCh38)
X:18275000 (GRCh37)
Canonical SPDI:: NC_000023.11:18256879:T:C
Gene:: SCML2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.18256880T>C, NC_000023.10:g.18275000T>C, NG_021431.2:g.102845A>G, NM_006089.3:c.1424A>G, NM_006089.2:c.1424A>G, NR_033717.2:n.1545A>G, NR_033717.1:n.1581A>G, XM_017029220.3:c.1424A>G, XM_017029220.2:c.1424A>G, XM_017029220.1:c.1424A>G, XM_017029222.2:c.632A>G, XM_017029222.1:c.632A>G, XM_017029219.2:c.1424A>G, XM_017029219.1:c.1424A>G, XM_006724458.1:c.1424A>G, NP_006080.1:p.His475Arg, XP_016884709.1:p.His475Arg, XP_016884711.1:p.His211Arg, XP_016884708.1:p.His475Arg, XP_006724521.1:p.His475Arg

Select item 14812060257.

rs1481206025 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:18246747 (GRCh38)
X:18264867 (GRCh37)
Canonical SPDI:: NC_000023.11:18246746:G:A
Gene:: SCML2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.18246747G>A, NC_000023.10:g.18264867G>A, NG_021431.2:g.112978C>T, NM_006089.3:c.1652C>T, NM_006089.2:c.1652C>T, NR_033717.2:n.1773C>T, NR_033717.1:n.1809C>T, XM_017029220.3:c.1652C>T, XM_017029220.2:c.1652C>T, XM_017029220.1:c.1652C>T, XM_017029222.2:c.860C>T, XM_017029222.1:c.860C>T, XM_017029219.2:c.1652C>T, XM_017029219.1:c.1652C>T, XM_006724458.1:c.1652C>T, NP_006080.1:p.Ser551Leu, XP_016884709.1:p.Ser551Leu, XP_016884711.1:p.Ser287Leu, XP_016884708.1:p.Ser551Leu, XP_006724521.1:p.Ser551Leu

Select item 14797246938.

rs1479724693 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:18246716 (GRCh38)
X:18264836 (GRCh37)
Canonical SPDI:: NC_000023.11:18246715:A:G
Gene:: SCML2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.18246716A>G, NC_000023.10:g.18264836A>G, NG_021431.2:g.113009T>C, NM_006089.3:c.1683T>C, NM_006089.2:c.1683T>C, NR_033717.2:n.1804T>C, NR_033717.1:n.1840T>C, XM_017029220.3:c.1683T>C, XM_017029220.2:c.1683T>C, XM_017029220.1:c.1683T>C, XM_017029222.2:c.891T>C, XM_017029222.1:c.891T>C, XM_017029219.2:c.1683T>C, XM_017029219.1:c.1683T>C, XM_006724458.1:c.1683T>C

Select item 14783818709.

rs1478381870 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:18242477 (GRCh38)
X:18260597 (GRCh37)
Canonical SPDI:: NC_000023.11:18242476:G:A
Gene:: SCML2 (Varview)
Functional Consequence:: intron_variant,stop_gained,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.18242477G>A, NC_000023.10:g.18260597G>A, NG_021431.2:g.117248C>T, NM_006089.3:c.1936C>T, NM_006089.2:c.1936C>T, NR_033717.2:n.2057C>T, NR_033717.1:n.2093C>T, XM_017029220.3:c.1936C>T, XM_017029220.2:c.1936C>T, XM_017029220.1:c.1936C>T, XM_017029222.2:c.1144C>T, XM_017029222.1:c.1144C>T, XM_017029219.2:c.1936C>T, XM_017029219.1:c.1936C>T, NP_006080.1:p.Gln646Ter, XP_016884709.1:p.Gln646Ter, XP_016884711.1:p.Gln382Ter, XP_016884708.1:p.Gln646Ter

Select item 147621075610.

rs1476210756 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:18246673 (GRCh38)
X:18264793 (GRCh37)
Canonical SPDI:: NC_000023.11:18246672:T:C
Gene:: SCML2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.18246673T>C, NC_000023.10:g.18264793T>C, NG_021431.2:g.113052A>G, NM_006089.3:c.1726A>G, NM_006089.2:c.1726A>G, NR_033717.2:n.1847A>G, NR_033717.1:n.1883A>G, XM_017029220.3:c.1726A>G, XM_017029220.2:c.1726A>G, XM_017029220.1:c.1726A>G, XM_017029222.2:c.934A>G, XM_017029222.1:c.934A>G, XM_017029219.2:c.1726A>G, XM_017029219.1:c.1726A>G, XM_006724458.1:c.1726A>G, NP_006080.1:p.Ser576Gly, XP_016884709.1:p.Ser576Gly, XP_016884711.1:p.Ser312Gly, XP_016884708.1:p.Ser576Gly, XP_006724521.1:p.Ser576Gly

Select item 147576123411.

rs1475761234 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:18258242 (GRCh38)
X:18276362 (GRCh37)
Canonical SPDI:: NC_000023.11:18258241:C:A
Gene:: SCML2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000023.11:g.18258242C>A, NC_000023.10:g.18276362C>A, NG_021431.2:g.101483G>T, NM_006089.3:c.1075G>T, NM_006089.2:c.1075G>T, NR_033717.2:n.1196G>T, NR_033717.1:n.1232G>T, XM_017029220.3:c.1075G>T, XM_017029220.2:c.1075G>T, XM_017029220.1:c.1075G>T, XM_017029222.2:c.283G>T, XM_017029222.1:c.283G>T, XM_017029219.2:c.1075G>T, XM_017029219.1:c.1075G>T, XM_006724458.1:c.1075G>T, NP_006080.1:p.Val359Phe, XP_016884709.1:p.Val359Phe, XP_016884711.1:p.Val95Phe, XP_016884708.1:p.Val359Phe, XP_006724521.1:p.Val359Phe

Select item 147061310312.

rs1470613103 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:18246607 (GRCh38)
X:18264727 (GRCh37)
Canonical SPDI:: NC_000023.11:18246606:C:G
Gene:: SCML2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.18246607C>G, NC_000023.10:g.18264727C>G, NG_021431.2:g.113118G>C, NM_006089.3:c.1792G>C, NM_006089.2:c.1792G>C, NR_033717.2:n.1913G>C, NR_033717.1:n.1949G>C, XM_017029220.3:c.1792G>C, XM_017029220.2:c.1792G>C, XM_017029220.1:c.1792G>C, XM_017029222.2:c.1000G>C, XM_017029222.1:c.1000G>C, XM_017029219.2:c.1792G>C, XM_017029219.1:c.1792G>C, XM_006724458.1:c.1792G>C, NP_006080.1:p.Val598Leu, XP_016884709.1:p.Val598Leu, XP_016884711.1:p.Val334Leu, XP_016884708.1:p.Val598Leu, XP_006724521.1:p.Val598Leu

Select item 146088812013.

rs1460888120 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:18265595 (GRCh38)
X:18283715 (GRCh37)
Canonical SPDI:: NC_000023.11:18265594:G:A
Gene:: SCML2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.18265595G>A, NC_000023.10:g.18283715G>A, NG_021431.2:g.94130C>T, NM_006089.3:c.938C>T, NM_006089.2:c.938C>T, NR_033717.2:n.1059C>T, NR_033717.1:n.1095C>T, XM_017029220.3:c.938C>T, XM_017029220.2:c.938C>T, XM_017029220.1:c.938C>T, XM_017029222.2:c.146C>T, XM_017029222.1:c.146C>T, XM_017029219.2:c.938C>T, XM_017029219.1:c.938C>T, XM_006724458.1:c.938C>T, NP_006080.1:p.Ser313Leu, XP_016884709.1:p.Ser313Leu, XP_016884711.1:p.Ser49Leu, XP_016884708.1:p.Ser313Leu, XP_006724521.1:p.Ser313Leu

Select item 145998088914.

rs1459980889 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: X:18246762 (GRCh38)
X:18264882 (GRCh37)
Canonical SPDI:: NC_000023.11:18246761:C:A,NC_000023.11:18246761:C:G
Gene:: SCML2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.18246762C>A, NC_000023.11:g.18246762C>G, NC_000023.10:g.18264882C>A, NC_000023.10:g.18264882C>G, NG_021431.2:g.112963G>T, NG_021431.2:g.112963G>C, NM_006089.3:c.1637G>T, NM_006089.3:c.1637G>C, NM_006089.2:c.1637G>T, NM_006089.2:c.1637G>C, NR_033717.2:n.1758G>T, NR_033717.2:n.1758G>C, NR_033717.1:n.1794G>T, NR_033717.1:n.1794G>C, XM_017029220.3:c.1637G>T, XM_017029220.3:c.1637G>C, XM_017029220.2:c.1637G>T, XM_017029220.2:c.1637G>C, XM_017029220.1:c.1637G>T, XM_017029220.1:c.1637G>C, XM_017029222.2:c.845G>T, XM_017029222.2:c.845G>C, XM_017029222.1:c.845G>T, XM_017029222.1:c.845G>C, XM_017029219.2:c.1637G>T, XM_017029219.2:c.1637G>C, XM_017029219.1:c.1637G>T, XM_017029219.1:c.1637G>C, XM_006724458.1:c.1637G>T, XM_006724458.1:c.1637G>C, NP_006080.1:p.Ser546Ile, NP_006080.1:p.Ser546Thr, XP_016884709.1:p.Ser546Ile, XP_016884709.1:p.Ser546Thr, XP_016884711.1:p.Ser282Ile, XP_016884711.1:p.Ser282Thr, XP_016884708.1:p.Ser546Ile, XP_016884708.1:p.Ser546Thr, XP_006724521.1:p.Ser546Ile, XP_006724521.1:p.Ser546Thr

Select item 145857861715.

rs1458578617 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:18265740 (GRCh38)
X:18283860 (GRCh37)
Canonical SPDI:: NC_000023.11:18265739:T:C
Gene:: SCML2 (Varview)
Functional Consequence:: non_coding_transcript_variant,initiator_codon_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.18265740T>C, NC_000023.10:g.18283860T>C, NG_021431.2:g.93985A>G, NM_006089.3:c.793A>G, NM_006089.2:c.793A>G, NR_033717.2:n.914A>G, NR_033717.1:n.950A>G, XM_017029220.3:c.793A>G, XM_017029220.2:c.793A>G, XM_017029220.1:c.793A>G, XM_017029222.2:c.1A>G, XM_017029222.1:c.1A>G, XM_017029219.2:c.793A>G, XM_017029219.1:c.793A>G, XM_006724458.1:c.793A>G, NP_006080.1:p.Met265Val, XP_016884709.1:p.Met265Val, XP_016884711.1:p.Met1Val, XP_016884708.1:p.Met265Val, XP_006724521.1:p.Met265Val

Select item 145502534116.

rs1455025341 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:18260192 (GRCh38)
X:18278312 (GRCh37)
Canonical SPDI:: NC_000023.11:18260191:A:G
Gene:: SCML2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000006/1 (GnomAD_exomes)
G=0.00001/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.18260192A>G, NC_000023.10:g.18278312A>G, NG_021431.2:g.99533T>C, NM_006089.3:c.1048T>C, NM_006089.2:c.1048T>C, NR_033717.2:n.1169T>C, NR_033717.1:n.1205T>C, XM_017029220.3:c.1048T>C, XM_017029220.2:c.1048T>C, XM_017029220.1:c.1048T>C, XM_017029222.2:c.256T>C, XM_017029222.1:c.256T>C, XM_017029219.2:c.1048T>C, XM_017029219.1:c.1048T>C, XM_006724458.1:c.1048T>C, NP_006080.1:p.Cys350Arg, XP_016884709.1:p.Cys350Arg, XP_016884711.1:p.Cys86Arg, XP_016884708.1:p.Cys350Arg, XP_006724521.1:p.Cys350Arg

Select item 145011675517.

rs1450116755 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:18260240 (GRCh38)
X:18278360 (GRCh37)
Canonical SPDI:: NC_000023.11:18260239:G:A
Gene:: SCML2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.18260240G>A, NC_000023.10:g.18278360G>A, NG_021431.2:g.99485C>T, NM_006089.3:c.1000C>T, NM_006089.2:c.1000C>T, NR_033717.2:n.1121C>T, NR_033717.1:n.1157C>T, XM_017029220.3:c.1000C>T, XM_017029220.2:c.1000C>T, XM_017029220.1:c.1000C>T, XM_017029222.2:c.208C>T, XM_017029222.1:c.208C>T, XM_017029219.2:c.1000C>T, XM_017029219.1:c.1000C>T, XM_006724458.1:c.1000C>T

Select item 144873607018.

rs1448736070 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:18305191 (GRCh38)
X:18323311 (GRCh37)
Canonical SPDI:: NC_000023.11:18305190:T:A
Gene:: SCML2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.18305191T>A, NC_000023.10:g.18323311T>A, NG_021431.2:g.54534A>T, NM_006089.3:c.511A>T, NM_006089.2:c.511A>T, NR_033717.2:n.632A>T, NR_033717.1:n.668A>T, XM_017029220.3:c.511A>T, XM_017029220.2:c.511A>T, XM_017029220.1:c.511A>T, XM_017029219.2:c.511A>T, XM_017029219.1:c.511A>T, XM_006724458.1:c.511A>T, NP_006080.1:p.Asn171Tyr, XP_016884709.1:p.Asn171Tyr, XP_016884708.1:p.Asn171Tyr, XP_006724521.1:p.Asn171Tyr

Select item 144664554819.

rs1446645548 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:18323944 (GRCh38)
X:18342064 (GRCh37)
Canonical SPDI:: NC_000023.11:18323943:A:G
Gene:: SCML2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
G=0.000016/3 (GnomAD_exomes)
HGVS:: NC_000023.11:g.18323944A>G, NC_000023.10:g.18342064A>G, NG_021431.2:g.35781T>C, NM_006089.3:c.312T>C, NM_006089.2:c.312T>C, NR_033717.2:n.433T>C, NR_033717.1:n.469T>C, XM_017029220.3:c.312T>C, XM_017029220.2:c.312T>C, XM_017029220.1:c.312T>C, XM_017029219.2:c.312T>C, XM_017029219.1:c.312T>C, XM_006724458.1:c.312T>C

Select item 144662229420.

rs1446622294 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:18305092 (GRCh38)
X:18323212 (GRCh37)
Canonical SPDI:: NC_000023.11:18305091:T:C
Gene:: SCML2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.18305092T>C, NC_000023.10:g.18323212T>C, NG_021431.2:g.54633A>G, NM_006089.3:c.610A>G, NM_006089.2:c.610A>G, NR_033717.2:n.731A>G, NR_033717.1:n.767A>G, XM_017029220.3:c.610A>G, XM_017029220.2:c.610A>G, XM_017029220.1:c.610A>G, XM_017029219.2:c.610A>G, XM_017029219.1:c.610A>G, XM_006724458.1:c.610A>G, NP_006080.1:p.Ile204Val, XP_016884709.1:p.Ile204Val, XP_016884708.1:p.Ile204Val, XP_006724521.1:p.Ile204Val

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