SNP Links for Protein (Select 282398135) - SNP

Links from Protein

Items: 1 to 20 of 224

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Select item 14784006571.

rs1478400657 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:178521686 (GRCh38)
1:178490821 (GRCh37)
Canonical SPDI:: NC_000001.11:178521685:C:T
Gene:: TEX35 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.178521686C>T, NC_000001.10:g.178490821C>T, NM_001170723.2:c.601C>T, NM_001170723.1:c.601C>T

Select item 14765068562.

rs1476506856 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:178516620 (GRCh38)
1:178485755 (GRCh37)
Canonical SPDI:: NC_000001.11:178516619:G:C
Gene:: TEX35 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.178516620G>C, NC_000001.10:g.178485755G>C, NM_032126.5:c.222G>C, NM_032126.4:c.222G>C, NM_001170722.2:c.246G>C, NM_001170722.1:c.246G>C, NM_001170724.2:c.222G>C, NM_001170724.1:c.222G>C, NM_001170723.2:c.222G>C, NM_001170723.1:c.222G>C, NP_115502.2:p.Lys74Asn, NP_001164193.1:p.Lys82Asn, NP_001164195.1:p.Lys74Asn, NP_001164194.1:p.Lys74Asn

Select item 14727852823.

rs1472785282 [Homo sapiens]

Variant type:: DEL
Alleles:: CGATG>- [Show Flanks]
Chromosome:: 1:178520810 (GRCh38)
1:178489945 (GRCh37)
Canonical SPDI:: NC_000001.11:178520809:CGATG:
Gene:: TEX35 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.178520810_178520814del, NC_000001.10:g.178489945_178489949del, NM_032126.5:c.479_483del, NM_032126.4:c.479_483del, NM_001170722.2:c.503_507del, NM_001170722.1:c.503_507del, NM_001170724.2:c.479_483del, NM_001170724.1:c.479_483del, NM_001170723.2:c.479_483del, NM_001170723.1:c.479_483del, NP_115502.2:p.Thr160fs, NP_001164193.1:p.Thr168fs, NP_001164195.1:p.Thr160fs, NP_001164194.1:p.Thr160fs

Select item 14722556414.

rs1472255641 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:178514709 (GRCh38)
1:178483844 (GRCh37)
Canonical SPDI:: NC_000001.11:178514708:T:C
Gene:: TEX35 (Varview), LOC101928866 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.178514709T>C, NC_000001.10:g.178483844T>C, NM_032126.5:c.100T>C, NM_032126.4:c.100T>C, NM_001170722.2:c.124T>C, NM_001170722.1:c.124T>C, NM_001170724.2:c.100T>C, NM_001170724.1:c.100T>C, NM_001170723.2:c.100T>C, NM_001170723.1:c.100T>C, NP_115502.2:p.Tyr34His, NP_001164193.1:p.Tyr42His, NP_001164195.1:p.Tyr34His, NP_001164194.1:p.Tyr34His

Select item 14621504145.

rs1462150414 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:178515865 (GRCh38)
1:178485000 (GRCh37)
Canonical SPDI:: NC_000001.11:178515864:C:T
Gene:: TEX35 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.178515865C>T, NC_000001.10:g.178485000C>T, NM_032126.5:c.166C>T, NM_032126.4:c.166C>T, NM_001170722.2:c.190C>T, NM_001170722.1:c.190C>T, NM_001170724.2:c.166C>T, NM_001170724.1:c.166C>T, NM_001170723.2:c.166C>T, NM_001170723.1:c.166C>T, NP_115502.2:p.Leu56Phe, NP_001164193.1:p.Leu64Phe, NP_001164195.1:p.Leu56Phe, NP_001164194.1:p.Leu56Phe

Select item 14594646436.

rs1459464643 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:178520810 (GRCh38)
1:178489945 (GRCh37)
Canonical SPDI:: NC_000001.11:178520809:C:T
Gene:: TEX35 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.178520810C>T, NC_000001.10:g.178489945C>T, NM_032126.5:c.479C>T, NM_032126.4:c.479C>T, NM_001170722.2:c.503C>T, NM_001170722.1:c.503C>T, NM_001170724.2:c.479C>T, NM_001170724.1:c.479C>T, NM_001170723.2:c.479C>T, NM_001170723.1:c.479C>T, NP_115502.2:p.Thr160Met, NP_001164193.1:p.Thr168Met, NP_001164195.1:p.Thr160Met, NP_001164194.1:p.Thr160Met

Select item 14582010777.

rs1458201077 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:178513192 (GRCh38)
1:178482327 (GRCh37)
Canonical SPDI:: NC_000001.11:178513191:T:A
Gene:: TEX35 (Varview), LOC101928866 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.178513192T>A, NC_000001.10:g.178482327T>A, NM_032126.5:c.4T>A, NM_032126.4:c.4T>A, NM_001170722.2:c.4T>A, NM_001170722.1:c.4T>A, NM_001170724.2:c.4T>A, NM_001170724.1:c.4T>A, NM_001170723.2:c.4T>A, NM_001170723.1:c.4T>A, NP_115502.2:p.Ser2Thr, NP_001164193.1:p.Ser2Thr, NP_001164195.1:p.Ser2Thr, NP_001164194.1:p.Ser2Thr

Select item 14570971388.

rs1457097138 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:178521705 (GRCh38)
1:178490840 (GRCh37)
Canonical SPDI:: NC_000001.11:178521704:A:G
Gene:: TEX35 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_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_000001.11:g.178521705A>G, NC_000001.10:g.178490840A>G, NM_001170723.2:c.620A>G, NM_001170723.1:c.620A>G, NP_001164194.1:p.His207Arg

Select item 14564051719.

rs1456405171 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:178514030 (GRCh38)
1:178483165 (GRCh37)
Canonical SPDI:: NC_000001.11:178514029:A:G
Gene:: TEX35 (Varview), LOC101928866 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000036/5 (GnomAD)
G=0.000068/18 (TOPMED)
HGVS:: NC_000001.11:g.178514030A>G, NC_000001.10:g.178483165A>G, NM_032126.5:c.43A>G, NM_032126.4:c.43A>G, NM_001170722.2:c.67A>G, NM_001170722.1:c.67A>G, NM_001170724.2:c.43A>G, NM_001170724.1:c.43A>G, NM_001170723.2:c.43A>G, NM_001170723.1:c.43A>G, NP_115502.2:p.Lys15Glu, NP_001164193.1:p.Lys23Glu, NP_001164195.1:p.Lys15Glu, NP_001164194.1:p.Lys15Glu

Select item 145433047410.

rs1454330474 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:178516628 (GRCh38)
1:178485763 (GRCh37)
Canonical SPDI:: NC_000001.11:178516627:T:A
Gene:: TEX35 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.178516628T>A, NC_000001.10:g.178485763T>A, NM_032126.5:c.230T>A, NM_032126.4:c.230T>A, NM_001170722.2:c.254T>A, NM_001170722.1:c.254T>A, NM_001170724.2:c.230T>A, NM_001170724.1:c.230T>A, NM_001170723.2:c.230T>A, NM_001170723.1:c.230T>A, NP_115502.2:p.Met77Lys, NP_001164193.1:p.Met85Lys, NP_001164195.1:p.Met77Lys, NP_001164194.1:p.Met77Lys

Select item 144718424711.

rs1447184247 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:178520783 (GRCh38)
1:178489918 (GRCh37)
Canonical SPDI:: NC_000001.11:178520782:G:C
Gene:: TEX35 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.178520783G>C, NC_000001.10:g.178489918G>C, NM_032126.5:c.452G>C, NM_032126.4:c.452G>C, NM_001170722.2:c.476G>C, NM_001170722.1:c.476G>C, NM_001170724.2:c.452G>C, NM_001170724.1:c.452G>C, NM_001170723.2:c.452G>C, NM_001170723.1:c.452G>C, NP_115502.2:p.Gly151Ala, NP_001164193.1:p.Gly159Ala, NP_001164195.1:p.Gly151Ala, NP_001164194.1:p.Gly151Ala

Select item 143676016412.

rs1436760164 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:178521229 (GRCh38)
1:178490364 (GRCh37)
Canonical SPDI:: NC_000001.11:178521228:G:A
Gene:: TEX35 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.178521229G>A, NC_000001.10:g.178490364G>A, NM_032126.5:c.551G>A, NM_032126.4:c.551G>A, NM_001170722.2:c.575G>A, NM_001170722.1:c.575G>A, NM_001170724.2:c.551G>A, NM_001170724.1:c.551G>A, NM_001170723.2:c.551G>A, NM_001170723.1:c.551G>A, NP_115502.2:p.Cys184Tyr, NP_001164193.1:p.Cys192Tyr, NP_001164195.1:p.Cys184Tyr, NP_001164194.1:p.Cys184Tyr

Select item 142964895313.

rs1429648953 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:178514745 (GRCh38)
1:178483880 (GRCh37)
Canonical SPDI:: NC_000001.11:178514744:G:A
Gene:: TEX35 (Varview), LOC101928866 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.178514745G>A, NC_000001.10:g.178483880G>A, NM_032126.5:c.136G>A, NM_032126.4:c.136G>A, NM_001170722.2:c.160G>A, NM_001170722.1:c.160G>A, NM_001170724.2:c.136G>A, NM_001170724.1:c.136G>A, NM_001170723.2:c.136G>A, NM_001170723.1:c.136G>A, NP_115502.2:p.Ala46Thr, NP_001164193.1:p.Ala54Thr, NP_001164195.1:p.Ala46Thr, NP_001164194.1:p.Ala46Thr

Select item 142621338014.

rs1426213380 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:178520796 (GRCh38)
1:178489931 (GRCh37)
Canonical SPDI:: NC_000001.11:178520795:T:G
Gene:: TEX35 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.178520796T>G, NC_000001.10:g.178489931T>G, NM_032126.5:c.465T>G, NM_032126.4:c.465T>G, NM_001170722.2:c.489T>G, NM_001170722.1:c.489T>G, NM_001170724.2:c.465T>G, NM_001170724.1:c.465T>G, NM_001170723.2:c.465T>G, NM_001170723.1:c.465T>G

Select item 141997458515.

rs1419974585 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:178520434 (GRCh38)
1:178489569 (GRCh37)
Canonical SPDI:: NC_000001.11:178520433:G:A
Gene:: TEX35 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.178520434G>A, NC_000001.10:g.178489569G>A, NM_032126.5:c.339G>A, NM_032126.4:c.339G>A, NM_001170722.2:c.363G>A, NM_001170722.1:c.363G>A, NM_001170724.2:c.339G>A, NM_001170724.1:c.339G>A, NM_001170723.2:c.339G>A, NM_001170723.1:c.339G>A

Select item 141870359916.

rs1418703599 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:178520802 (GRCh38)
1:178489937 (GRCh37)
Canonical SPDI:: NC_000001.11:178520801:C:T
Gene:: TEX35 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.178520802C>T, NC_000001.10:g.178489937C>T, NM_032126.5:c.471C>T, NM_032126.4:c.471C>T, NM_001170722.2:c.495C>T, NM_001170722.1:c.495C>T, NM_001170724.2:c.471C>T, NM_001170724.1:c.471C>T, NM_001170723.2:c.471C>T, NM_001170723.1:c.471C>T

Select item 141555337317.

rs1415553373 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:178521700 (GRCh38)
1:178490835 (GRCh37)
Canonical SPDI:: NC_000001.11:178521699:G:A
Gene:: TEX35 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000006/1 (GnomAD_exomes)
A=0.000019/5 (TOPMED)
A=0.000029/4 (GnomAD)
A=0.000071/1 (TOMMO)
HGVS:: NC_000001.11:g.178521700G>A, NC_000001.10:g.178490835G>A, NM_001170723.2:c.615G>A, NM_001170723.1:c.615G>A

Select item 141470036218.

rs1414700362 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:178521235 (GRCh38)
1:178490370 (GRCh37)
Canonical SPDI:: NC_000001.11:178521234:T:C
Gene:: TEX35 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.178521235T>C, NC_000001.10:g.178490370T>C, NM_032126.5:c.557T>C, NM_032126.4:c.557T>C, NM_001170722.2:c.581T>C, NM_001170722.1:c.581T>C, NM_001170724.2:c.557T>C, NM_001170724.1:c.557T>C, NM_001170723.2:c.557T>C, NM_001170723.1:c.557T>C, NP_115502.2:p.Leu186Ser, NP_001164193.1:p.Leu194Ser, NP_001164195.1:p.Leu186Ser, NP_001164194.1:p.Leu186Ser

Select item 141439257819.

rs1414392578 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:178516636 (GRCh38)
1:178485771 (GRCh37)
Canonical SPDI:: NC_000001.11:178516635:G:A
Gene:: TEX35 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.178516636G>A, NC_000001.10:g.178485771G>A, NM_032126.5:c.238G>A, NM_032126.4:c.238G>A, NM_001170722.2:c.262G>A, NM_001170722.1:c.262G>A, NM_001170724.2:c.238G>A, NM_001170724.1:c.238G>A, NM_001170723.2:c.238G>A, NM_001170723.1:c.238G>A, NP_115502.2:p.Asp80Asn, NP_001164193.1:p.Asp88Asn, NP_001164195.1:p.Asp80Asn, NP_001164194.1:p.Asp80Asn

Select item 141412347020.

rs1414123470 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:178520822 (GRCh38)
1:178489957 (GRCh37)
Canonical SPDI:: NC_000001.11:178520821:A:G
Gene:: TEX35 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.178520822A>G, NC_000001.10:g.178489957A>G, NM_032126.5:c.491A>G, NM_032126.4:c.491A>G, NM_001170722.2:c.515A>G, NM_001170722.1:c.515A>G, NM_001170724.2:c.491A>G, NM_001170724.1:c.491A>G, NM_001170723.2:c.491A>G, NM_001170723.1:c.491A>G, NP_115502.2:p.Gln164Arg, NP_001164193.1:p.Gln172Arg, NP_001164195.1:p.Gln164Arg, NP_001164194.1:p.Gln164Arg

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