SNP Links for Protein (Select 1134612278) - SNP

Links from Protein

Items: 1 to 20 of 38

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Select item 14846023601.

rs1484602360 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:135098532 (GRCh38)
X:134232562 (GRCh37)
Canonical SPDI:: NC_000023.11:135098531:G:T
Gene:: SMIM10L2B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.135098532G>T, NC_000023.10:g.134232562G>T, NW_004070887.1:g.29676G>T, NM_001348255.2:c.102C>A, NM_001348255.1:c.102C>A, NR_024493.2:n.103C>A, NR_024493.1:n.172C>A

Select item 14841710232.

rs1484171023 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:135098542 (GRCh38)
X:134232572 (GRCh37)
Canonical SPDI:: NC_000023.11:135098541:C:T
Gene:: SMIM10L2B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/2 (GnomAD)
T=0.000026/7 (TOPMED)
HGVS:: NC_000023.11:g.135098542C>T, NC_000023.10:g.134232572C>T, NW_004070887.1:g.29686C>T, NM_001348255.2:c.92G>A, NM_001348255.1:c.92G>A, NR_024493.2:n.93G>A, NR_024493.1:n.162G>A, NP_001335184.1:p.Gly31Asp

Select item 14749660683.

rs1474966068 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGC>-,CGCCGC [Show Flanks]
Chromosome:: X:135098607 (GRCh38)
X:134232637 (GRCh37)
Canonical SPDI:: NC_000023.11:135098592:GCCGCCGCCGCCGCCGC:GCCGCCGCCGCCGC,NC_000023.11:135098592:GCCGCCGCCGCCGCCGC:GCCGCCGCCGCCGCCGCCGC
Gene:: SMIM10L2B (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: GCCGCCGCCGCCGCCGCCGC=0./0 (ALFA)
HGVS:: NC_000023.11:g.135098595CGC[4], NC_000023.11:g.135098595CGC[6], NC_000023.10:g.134232625CGC[4], NC_000023.10:g.134232625CGC[6], NW_004070887.1:g.29739CGC[4], NW_004070887.1:g.29739CGC[6], NM_001348255.2:c.27GGC[4], NM_001348255.2:c.27GGC[6], NM_001348255.1:c.27GGC[4], NM_001348255.1:c.27GGC[6], NR_024493.2:n.28GGC[4], NR_024493.2:n.28GGC[6], NR_024493.1:n.97GGC[4], NR_024493.1:n.97GGC[6], NP_001335184.1:p.Ala15del, NP_001335184.1:p.Ala15dup

Select item 14679750154.

rs1467975015 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: X:135098456 (GRCh38)
X:134232487 (GRCh37)
Canonical SPDI:: NC_000023.11:135098456:GGGG:GGGGG
Gene:: SMIM10L2B (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: GGGGG=0./0 (ALFA)
G=0.00003/8 (TOPMED)
HGVS:: NC_000023.11:g.135098460dup, NC_000023.10:g.134232490dup, NW_004070887.1:g.29604dup, NM_001348255.2:c.177dup, NM_001348255.1:c.177dup, NR_024493.2:n.178dup, NR_024493.1:n.247dup, NP_001335184.1:p.Tyr60fs

Select item 14649996365.

rs1464999636 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:135098613 (GRCh38)
X:134232643 (GRCh37)
Canonical SPDI:: NC_000023.11:135098612:C:A
Gene:: SMIM10L2B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.00001/1 (GnomAD)
A=0.020833/1 (Vietnamese)
HGVS:: NC_000023.11:g.135098613C>A, NC_000023.10:g.134232643C>A, NW_004070887.1:g.29757C>A, NM_001348255.2:c.21G>T, NM_001348255.1:c.21G>T, NR_024493.2:n.22G>T, NR_024493.1:n.91G>T

Select item 14578984536.

rs1457898453 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: X:135098580 (GRCh38)
X:134232610 (GRCh37)
Canonical SPDI:: NC_000023.11:135098579:G:C,NC_000023.11:135098579:G:T
Gene:: SMIM10L2B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000039/4 (GnomAD)
HGVS:: NC_000023.11:g.135098580G>C, NC_000023.11:g.135098580G>T, NC_000023.10:g.134232610G>C, NC_000023.10:g.134232610G>T, NW_004070887.1:g.29724G>C, NW_004070887.1:g.29724G>T, NM_001348255.2:c.54C>G, NM_001348255.2:c.54C>A, NM_001348255.1:c.54C>G, NM_001348255.1:c.54C>A, NR_024493.2:n.55C>G, NR_024493.2:n.55C>A, NR_024493.1:n.124C>G, NR_024493.1:n.124C>A

Select item 14197277897.

rs1419727789 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:135098509 (GRCh38)
X:134232539 (GRCh37)
Canonical SPDI:: NC_000023.11:135098508:C:T
Gene:: SMIM10L2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.135098509C>T, NC_000023.10:g.134232539C>T, NW_004070887.1:g.29653C>T, NM_001348255.2:c.125G>A, NM_001348255.1:c.125G>A, NR_024493.2:n.126G>A, NR_024493.1:n.195G>A, NP_001335184.1:p.Arg42His

Select item 14169327078.

rs1416932707 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCGCCGCCGCAGACAGAGCCGCCG>- [Show Flanks]
Chromosome:: X:135098600 (GRCh38)
X:134232630 (GRCh37)
Canonical SPDI:: NC_000023.11:135098592:GCCGCCGCCGCCGCCGCAGACAGAGCCGCCG:GCCGCCG
Gene:: SMIM10L2B (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa
MAF:: GCCGCCG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.135098600_135098623del, NC_000023.10:g.134232630_134232653del, NW_004070887.1:g.29744_29767del, NM_001348255.2:c.18_41del, NM_001348255.1:c.18_41del, NR_024493.2:n.19_42del, NR_024493.1:n.88_111del, NP_001335184.1:p.Leu7_Ala14del

Select item 14133611929.

rs1413361192 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:135098429 (GRCh38)
X:134232459 (GRCh37)
Canonical SPDI:: NC_000023.11:135098428:G:C
Gene:: SMIM10L2B (Varview)
Functional Consequence:: coding_sequence_variant,missense_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.135098429G>C, NC_000023.10:g.134232459G>C, NW_004070887.1:g.29573G>C, NM_001348255.2:c.205C>G, NM_001348255.1:c.205C>G, NR_024493.2:n.206C>G, NR_024493.1:n.275C>G, NP_001335184.1:p.Leu69Val

Select item 139833299910.

rs1398332999 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:135098574 (GRCh38)
X:134232604 (GRCh37)
Canonical SPDI:: NC_000023.11:135098573:C:T
Gene:: SMIM10L2B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
T=0.000023/6 (TOPMED)
T=0.000208/1 (1000Genomes)
HGVS:: NC_000023.11:g.135098574C>T, NC_000023.10:g.134232604C>T, NW_004070887.1:g.29718C>T, NM_001348255.2:c.60G>A, NM_001348255.1:c.60G>A, NR_024493.2:n.61G>A, NR_024493.1:n.130G>A

Select item 139049297111.

rs1390492971 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTTGAG [Show Flanks]
Chromosome:: X:135098423 (GRCh38)
X:134232454 (GRCh37)
Canonical SPDI:: NC_000023.11:135098423:GTTGAG:GTTGAGGTTGAG
Gene:: SMIM10L2B (Varview)
Functional Consequence:: inframe_insertion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTTGAGGTTGAG=0./0 (ALFA)
GTTGAG=0.000011/3 (TOPMED)
GTTGAG=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.135098424_135098429dup, NC_000023.10:g.134232454_134232459dup, NW_004070887.1:g.29568_29573dup, NM_001348255.2:c.205_210dup, NM_001348255.1:c.205_210dup, NR_024493.2:n.206_211dup, NR_024493.1:n.275_280dup, NP_001335184.1:p.Leu69_Asn70dup

Select item 138350196512.

rs1383501965 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:135098575 (GRCh38)
X:134232605 (GRCh37)
Canonical SPDI:: NC_000023.11:135098574:G:C
Gene:: SMIM10L2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.135098575G>C, NC_000023.10:g.134232605G>C, NW_004070887.1:g.29719G>C, NM_001348255.2:c.59C>G, NM_001348255.1:c.59C>G, NR_024493.2:n.60C>G, NR_024493.1:n.129C>G, NP_001335184.1:p.Ala20Gly

Select item 137521303413.

rs1375213034 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:135098430 (GRCh38)
X:134232460 (GRCh37)
Canonical SPDI:: NC_000023.11:135098429:C:G
Gene:: SMIM10L2B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.135098430C>G, NC_000023.10:g.134232460C>G, NW_004070887.1:g.29574C>G, NM_001348255.2:c.204G>C, NM_001348255.1:c.204G>C, NR_024493.2:n.205G>C, NR_024493.1:n.274G>C, NP_001335184.1:p.Met68Ile

Select item 136216961514.

rs1362169615 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:135098457 (GRCh38)
X:134232487 (GRCh37)
Canonical SPDI:: NC_000023.11:135098456:G:A
Gene:: SMIM10L2B (Varview)
Functional Consequence:: 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.135098457G>A, NC_000023.10:g.134232487G>A, NW_004070887.1:g.29601G>A, NM_001348255.2:c.177C>T, NM_001348255.1:c.177C>T, NR_024493.2:n.178C>T, NR_024493.1:n.247C>T

Select item 135523732615.

rs1355237326 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:135098571 (GRCh38)
X:134232601 (GRCh37)
Canonical SPDI:: NC_000023.11:135098570:A:C
Gene:: SMIM10L2B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.135098571A>C, NC_000023.10:g.134232601A>C, NW_004070887.1:g.29715A>C, NM_001348255.2:c.63T>G, NM_001348255.1:c.63T>G, NR_024493.2:n.64T>G, NR_024493.1:n.133T>G

Select item 135067387016.

rs1350673870 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:135098427 (GRCh38)
X:134232457 (GRCh37)
Canonical SPDI:: NC_000023.11:135098426:G:A,NC_000023.11:135098426:G:T
Gene:: SMIM10L2B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000057/15 (TOPMED)
HGVS:: NC_000023.11:g.135098427G>A, NC_000023.11:g.135098427G>T, NC_000023.10:g.134232457G>A, NC_000023.10:g.134232457G>T, NW_004070887.1:g.29571G>A, NW_004070887.1:g.29571G>T, NM_001348255.2:c.207C>T, NM_001348255.2:c.207C>A, NM_001348255.1:c.207C>T, NM_001348255.1:c.207C>A, NR_024493.2:n.208C>T, NR_024493.2:n.208C>A, NR_024493.1:n.277C>T, NR_024493.1:n.277C>A

Select item 133523145817.

rs1335231458 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:135098573 (GRCh38)
X:134232603 (GRCh37)
Canonical SPDI:: NC_000023.11:135098572:C:A,NC_000023.11:135098572:C:T
Gene:: SMIM10L2B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
A=0.000208/1 (1000Genomes)
HGVS:: NC_000023.11:g.135098573C>A, NC_000023.11:g.135098573C>T, NC_000023.10:g.134232603C>A, NC_000023.10:g.134232603C>T, NW_004070887.1:g.29717C>A, NW_004070887.1:g.29717C>T, NM_001348255.2:c.61G>T, NM_001348255.2:c.61G>A, NM_001348255.1:c.61G>T, NM_001348255.1:c.61G>A, NR_024493.2:n.62G>T, NR_024493.2:n.62G>A, NR_024493.1:n.131G>T, NR_024493.1:n.131G>A, NP_001335184.1:p.Val21Phe, NP_001335184.1:p.Val21Ile

Select item 132919785618.

rs1329197856 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:135098560 (GRCh38)
X:134232590 (GRCh37)
Canonical SPDI:: NC_000023.11:135098559:C:A
Gene:: SMIM10L2B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.135098560C>A, NC_000023.10:g.134232590C>A, NW_004070887.1:g.29704C>A, NM_001348255.2:c.74G>T, NM_001348255.1:c.74G>T, NR_024493.2:n.75G>T, NR_024493.1:n.144G>T, NP_001335184.1:p.Arg25Leu

Select item 130414789119.

rs1304147891 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:135098419 (GRCh38)
X:134232449 (GRCh37)
Canonical SPDI:: NC_000023.11:135098418:C:A,NC_000023.11:135098418:C:T
Gene:: SMIM10L2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.135098419C>A, NC_000023.11:g.135098419C>T, NC_000023.10:g.134232449C>A, NC_000023.10:g.134232449C>T, NW_004070887.1:g.29563C>A, NW_004070887.1:g.29563C>T, NM_001348255.2:c.215G>T, NM_001348255.2:c.215G>A, NM_001348255.1:c.215G>T, NM_001348255.1:c.215G>A, NR_024493.2:n.216G>T, NR_024493.2:n.216G>A, NR_024493.1:n.285G>T, NR_024493.1:n.285G>A, NP_001335184.1:p.Arg72Leu, NP_001335184.1:p.Arg72His

Select item 128990060620.

rs1289900606 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:135098564 (GRCh38)
X:134232594 (GRCh37)
Canonical SPDI:: NC_000023.11:135098563:A:G
Gene:: SMIM10L2B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000019/2 (GnomAD)
G=0.000026/7 (TOPMED)
HGVS:: NC_000023.11:g.135098564A>G, NC_000023.10:g.134232594A>G, NW_004070887.1:g.29708A>G, NM_001348255.2:c.70T>C, NM_001348255.1:c.70T>C, NR_024493.2:n.71T>C, NR_024493.1:n.140T>C, NP_001335184.1:p.Ser24Pro

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