SNP Links for Protein (Select 15150803) - SNP

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:86665735 (GRCh38)
10:88425492 (GRCh37)
Canonical SPDI:: NC_000010.11:86665734:A:G
Gene:: LDB3 (Varview), OPN4 (Varview), LOC105378409 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.86665735A>G, NC_000010.10:g.88425492A>G, NG_008876.1:g.2172A>G, NM_033282.4:c.1421A>G, NM_033282.3:c.1421A>G, NM_001030015.3:c.1454A>G, NM_001030015.2:c.1454A>G, NP_150598.1:p.Gln474Arg, NP_001025186.1:p.Gln485Arg

Select item 146972978013.

rs1469729780 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:86661384 (GRCh38)
10:88421141 (GRCh37)
Canonical SPDI:: NC_000010.11:86661383:T:C
Gene:: OPN4 (Varview), LOC105378409 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.86661384T>C, NC_000010.10:g.88421141T>C, NM_033282.4:c.1069T>C, NM_033282.3:c.1069T>C, NM_001030015.3:c.1102T>C, NM_001030015.2:c.1102T>C, XM_017016955.2:c.1102T>C, XM_017016955.1:c.1102T>C, XM_017016956.2:c.1069T>C, XM_017016956.1:c.1069T>C, NP_150598.1:p.Tyr357His, NP_001025186.1:p.Tyr368His, XP_016872444.1:p.Tyr368His, XP_016872445.1:p.Tyr357His

Select item 146846535314.

rs1468465353 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:86658644 (GRCh38)
10:88418401 (GRCh37)
Canonical SPDI:: NC_000010.11:86658643:G:A
Gene:: OPN4 (Varview), LOC105378409 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,intron_variant
HGVS:: NC_000010.11:g.86658644G>A, NC_000010.10:g.88418401G>A, NM_033282.4:c.585G>A, NM_033282.3:c.585G>A, NM_001030015.3:c.618G>A, NM_001030015.2:c.618G>A, XM_017016955.2:c.618G>A, XM_017016955.1:c.618G>A, XM_017016956.2:c.585G>A, XM_017016956.1:c.585G>A, NP_150598.1:p.Trp195Ter, NP_001025186.1:p.Trp206Ter, XP_016872444.1:p.Trp206Ter, XP_016872445.1:p.Trp195Ter

Select item 146686726515.

rs1466867265 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:86656158 (GRCh38)
10:88415915 (GRCh37)
Canonical SPDI:: NC_000010.11:86656157:C:T
Gene:: OPN4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.86656158C>T, NC_000010.10:g.88415915C>T, NM_033282.4:c.148C>T, NM_033282.3:c.148C>T, NM_001030015.3:c.148C>T, NM_001030015.2:c.148C>T, XM_017016955.2:c.148C>T, XM_017016955.1:c.148C>T, XM_017016956.2:c.148C>T, XM_017016956.1:c.148C>T, NP_150598.1:p.Pro50Ser, NP_001025186.1:p.Pro50Ser, XP_016872444.1:p.Pro50Ser, XP_016872445.1:p.Pro50Ser

Select item 146565334516.

rs1465653345 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 10:86654798 (GRCh38)
10:88414555 (GRCh37)
Canonical SPDI:: NC_000010.11:86654797:GGGG:GGG
Gene:: OPN4 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.86654801del, NC_000010.10:g.88414558del, NM_033282.4:c.18del, NM_033282.3:c.18del, NM_001030015.3:c.18del, NM_001030015.2:c.18del, XM_017016955.2:c.18del, XM_017016955.1:c.18del, XM_017016956.2:c.18del, XM_017016956.1:c.18del, NP_150598.1:p.Pro7fs, NP_001025186.1:p.Pro7fs, XP_016872444.1:p.Pro7fs, XP_016872445.1:p.Pro7fs

Select item 146351930217.

rs1463519302 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:86661318 (GRCh38)
10:88421075 (GRCh37)
Canonical SPDI:: NC_000010.11:86661317:C:T
Gene:: OPN4 (Varview), LOC105378409 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.86661318C>T, NC_000010.10:g.88421075C>T, NM_033282.4:c.1003C>T, NM_033282.3:c.1003C>T, NM_001030015.3:c.1036C>T, NM_001030015.2:c.1036C>T, XM_017016955.2:c.1036C>T, XM_017016955.1:c.1036C>T, XM_017016956.2:c.1003C>T, XM_017016956.1:c.1003C>T, NP_150598.1:p.Pro335Ser, NP_001025186.1:p.Pro346Ser, XP_016872444.1:p.Pro346Ser, XP_016872445.1:p.Pro335Ser

Select item 146231857018.

rs1462318570 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 10:86662409 (GRCh38)
10:88422166 (GRCh37)
Canonical SPDI:: NC_000010.11:86662408:T:A,NC_000010.11:86662408:T:G
Gene:: OPN4 (Varview), LOC105378409 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.86662409T>A, NC_000010.11:g.86662409T>G, NC_000010.10:g.88422166T>A, NC_000010.10:g.88422166T>G, NM_033282.4:c.1231T>A, NM_033282.4:c.1231T>G, NM_033282.3:c.1231T>A, NM_033282.3:c.1231T>G, NM_001030015.3:c.1264T>A, NM_001030015.3:c.1264T>G, NM_001030015.2:c.1264T>A, NM_001030015.2:c.1264T>G, XM_017016955.2:c.1264T>A, XM_017016955.2:c.1264T>G, XM_017016955.1:c.1264T>A, XM_017016955.1:c.1264T>G, XM_017016956.2:c.1231T>A, XM_017016956.2:c.1231T>G, XM_017016956.1:c.1231T>A, XM_017016956.1:c.1231T>G, NP_150598.1:p.Ser411Thr, NP_150598.1:p.Ser411Ala, NP_001025186.1:p.Ser422Thr, NP_001025186.1:p.Ser422Ala, XP_016872444.1:p.Ser422Thr, XP_016872444.1:p.Ser422Ala, XP_016872445.1:p.Ser411Thr, XP_016872445.1:p.Ser411Ala

Select item 146039808219.

rs1460398082 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:86659397 (GRCh38)
10:88419154 (GRCh37)
Canonical SPDI:: NC_000010.11:86659396:G:A
Gene:: OPN4 (Varview), LOC105378409 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.86659397G>A, NC_000010.10:g.88419154G>A, NM_033282.4:c.729G>A, NM_033282.3:c.729G>A, NM_001030015.3:c.762G>A, NM_001030015.2:c.762G>A, XM_017016955.2:c.762G>A, XM_017016955.1:c.762G>A, XM_017016956.2:c.729G>A, XM_017016956.1:c.729G>A

Select item 145871932820.

rs1458719328 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:86665726 (GRCh38)
10:88425483 (GRCh37)
Canonical SPDI:: NC_000010.11:86665725:T:A
Gene:: LDB3 (Varview), OPN4 (Varview), LOC105378409 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.86665726T>A, NC_000010.10:g.88425483T>A, NG_008876.1:g.2163T>A, NM_033282.4:c.1412T>A, NM_033282.3:c.1412T>A, NM_001030015.3:c.1445T>A, NM_001030015.2:c.1445T>A, NP_150598.1:p.Ile471Asn, NP_001025186.1:p.Ile482Asn

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