SNP Links for Protein (Select 1034661235) - SNP

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:7859260 (GRCh38)
8:7716782 (GRCh37)
Canonical SPDI:: NC_000008.11:7859259:C:G
Gene:: SPAG11A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.00008/1 (ALFA)
HGVS:: NC_000008.11:g.7859260C>G, NC_000008.10:g.7716782C>G, NW_018654717.1:g.767065C>G, XM_017013744.2:c.30C>G, XM_017013744.1:c.30C>G

Select item 135592672315.

rs1355926723 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:7860707 (GRCh38)
8:7718229 (GRCh37)
Canonical SPDI:: NC_000008.11:7860706:T:C
Gene:: SPAG11A (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.7860707T>C, NC_000008.10:g.7718229T>C, NW_018654717.1:g.768512T>C, NM_001081552.3:c.276T>C, NM_001081552.2:c.276T>C, NM_001363726.3:c.*40T>C, NM_001363726.2:c.*40T>C, NM_001363726.1:c.*40T>C, XM_017013744.2:c.117T>C, XM_017013744.1:c.117T>C, NM_001395484.1:c.276T>C

Select item 134962195316.

rs1349621953 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:7860792 (GRCh38)
8:7718314 (GRCh37)
Canonical SPDI:: NC_000008.11:7860791:G:A
Gene:: SPAG11A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.7860792G>A, NC_000008.10:g.7718314G>A, NW_018654717.1:g.768597G>A, NM_001363726.3:c.*125G>A, NM_001363726.2:c.*125G>A, NM_001363726.1:c.*125G>A, XM_017013744.2:c.202G>A, XM_017013744.1:c.202G>A, NM_001395484.1:c.361G>A, XP_016869233.1:p.Gly68Arg, NP_001382413.1:p.Gly121Arg

Select item 133521556317.

rs1335215563 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:7860666 (GRCh38)
8:7718188 (GRCh37)
Canonical SPDI:: NC_000008.11:7860665:A:G
Gene:: SPAG11A (Varview)
Functional Consequence:: terminator_codon_variant,stop_lost,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000016/2 (GnomAD)
G=0.000017/4 (GnomAD_exomes)
HGVS:: NC_000008.11:g.7860666A>G, NC_000008.10:g.7718188A>G, NW_018654717.1:g.768471A>G, NM_001081552.3:c.235A>G, NM_001081552.2:c.235A>G, NM_001363726.3:c.311A>G, NM_001363726.2:c.311A>G, NM_001363726.1:c.311A>G, XM_017013744.2:c.76A>G, XM_017013744.1:c.76A>G, NM_001395484.1:c.235A>G, NP_001075021.2:p.Arg79Gly, NP_001350655.1:p.Ter104Trp, XP_016869233.1:p.Arg26Gly, NP_001382413.1:p.Arg79Gly

Select item 133028061218.

rs1330280612 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:7860760 (GRCh38)
8:7718282 (GRCh37)
Canonical SPDI:: NC_000008.11:7860759:A:G
Gene:: SPAG11A (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000008.11:g.7860760A>G, NC_000008.10:g.7718282A>G, NW_018654717.1:g.768565A>G, NM_001363726.3:c.*93A>G, NM_001363726.2:c.*93A>G, NM_001363726.1:c.*93A>G, XM_017013744.2:c.170A>G, XM_017013744.1:c.170A>G, NM_001395484.1:c.329A>G, XP_016869233.1:p.Asn57Ser, NP_001382413.1:p.Asn110Ser

Select item 131024334719.

rs1310243347 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:7860711 (GRCh38)
8:7718233 (GRCh37)
Canonical SPDI:: NC_000008.11:7860710:T:C
Gene:: SPAG11A (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000008.11:g.7860711T>C, NC_000008.10:g.7718233T>C, NW_018654717.1:g.768516T>C, NM_001081552.3:c.280T>C, NM_001081552.2:c.280T>C, NM_001363726.3:c.*44T>C, NM_001363726.2:c.*44T>C, NM_001363726.1:c.*44T>C, XM_017013744.2:c.121T>C, XM_017013744.1:c.121T>C, NM_001395484.1:c.280T>C, NP_001075021.2:p.Phe94Leu, XP_016869233.1:p.Phe41Leu, NP_001382413.1:p.Phe94Leu

Select item 130413793720.

rs1304137937 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:7860664 (GRCh38)
8:7718186 (GRCh37)
Canonical SPDI:: NC_000008.11:7860663:T:C
Gene:: SPAG11A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.7860664T>C, NC_000008.10:g.7718186T>C, NW_018654717.1:g.768469T>C, NM_001081552.3:c.233T>C, NM_001081552.2:c.233T>C, NM_001363726.3:c.309T>C, NM_001363726.2:c.309T>C, NM_001363726.1:c.309T>C, XM_017013744.2:c.74T>C, XM_017013744.1:c.74T>C, NM_001395484.1:c.233T>C, NP_001075021.2:p.Ile78Thr, XP_016869233.1:p.Ile25Thr, NP_001382413.1:p.Ile78Thr

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