SNP Links for Protein (Select 1034605101) - SNP

Links from Protein

Items: 1 to 20 of 242

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Select item 14879045201.

rs1487904520 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:260186 (GRCh38)
18:260186 (GRCh37)
Canonical SPDI:: NC_000018.10:260185:T:C
Gene:: THOC1 (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.260186T>C, NC_000018.9:g.260186T>C, XM_011525772.4:c.375A>G, XM_011525772.3:c.375A>G, XM_011525772.2:c.375A>G, XM_011525772.1:c.375A>G, NM_005131.3:c.375A>G, NM_005131.2:c.375A>G, XM_017026104.2:c.375A>G, XM_017026104.1:c.375A>G, XM_047437972.1:c.-40A>G

Select item 14874489662.

rs1487448966 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:246418 (GRCh38)
18:246418 (GRCh37)
Canonical SPDI:: NC_000018.10:246417:T:C
Gene:: THOC1 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000018.10:g.246418T>C, NC_000018.9:g.246418T>C, XM_011525772.4:c.824A>G, XM_011525772.3:c.824A>G, XM_011525772.2:c.824A>G, XM_011525772.1:c.824A>G, NM_005131.3:c.824A>G, NM_005131.2:c.824A>G, XM_017026104.2:c.824A>G, XM_017026104.1:c.824A>G, XM_047437972.1:c.410A>G, XP_011524074.1:p.Lys275Arg, NP_005122.2:p.Lys275Arg, XP_016881593.1:p.Lys275Arg, XP_047293928.1:p.Lys137Arg

Select item 14868623973.

rs1486862397 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:254284 (GRCh38)
18:254284 (GRCh37)
Canonical SPDI:: NC_000018.10:254283:G:A
Gene:: THOC1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
HGVS:: NC_000018.10:g.254284G>A, NC_000018.9:g.254284G>A, XM_011525772.4:c.592C>T, XM_011525772.3:c.592C>T, XM_011525772.2:c.592C>T, XM_011525772.1:c.592C>T, NM_005131.3:c.592C>T, NM_005131.2:c.592C>T, XM_017026104.2:c.592C>T, XM_017026104.1:c.592C>T, XM_047437972.1:c.178C>T

Select item 14859638714.

rs1485963871 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:264074 (GRCh38)
18:264074 (GRCh37)
Canonical SPDI:: NC_000018.10:264073:C:T
Gene:: THOC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.264074C>T, NC_000018.9:g.264074C>T, XM_011525772.4:c.208G>A, XM_011525772.3:c.208G>A, XM_011525772.2:c.208G>A, XM_011525772.1:c.208G>A, NM_005131.3:c.208G>A, NM_005131.2:c.208G>A, XM_017026104.2:c.208G>A, XM_017026104.1:c.208G>A, XP_011524074.1:p.Glu70Lys, NP_005122.2:p.Glu70Lys, XP_016881593.1:p.Glu70Lys

Select item 14755194765.

rs1475519476 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:252611 (GRCh38)
18:252611 (GRCh37)
Canonical SPDI:: NC_000018.10:252610:T:C
Gene:: THOC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000018.10:g.252611T>C, NC_000018.9:g.252611T>C, XM_011525772.4:c.605A>G, XM_011525772.3:c.605A>G, XM_011525772.2:c.605A>G, XM_011525772.1:c.605A>G, NM_005131.3:c.605A>G, NM_005131.2:c.605A>G, XM_017026104.2:c.605A>G, XM_017026104.1:c.605A>G, XM_047437972.1:c.191A>G, XP_011524074.1:p.His202Arg, NP_005122.2:p.His202Arg, XP_016881593.1:p.His202Arg, XP_047293928.1:p.His64Arg

Select item 14754343586.

rs1475434358 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:260214 (GRCh38)
18:260214 (GRCh37)
Canonical SPDI:: NC_000018.10:260213:A:G
Gene:: THOC1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant,genic_upstream_transcript_variant
HGVS:: NC_000018.10:g.260214A>G, NC_000018.9:g.260214A>G, XM_011525772.4:c.347T>C, XM_011525772.3:c.347T>C, XM_011525772.2:c.347T>C, XM_011525772.1:c.347T>C, NM_005131.3:c.347T>C, NM_005131.2:c.347T>C, XM_017026104.2:c.347T>C, XM_017026104.1:c.347T>C, XM_047437972.1:c.-68T>C, XP_011524074.1:p.Val116Ala, NP_005122.2:p.Val116Ala, XP_016881593.1:p.Val116Ala

Select item 14740785207.

rs1474078520 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:259693 (GRCh38)
18:259693 (GRCh37)
Canonical SPDI:: NC_000018.10:259692:C:T
Gene:: THOC1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000006/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.259693C>T, NC_000018.9:g.259693C>T, XM_011525772.4:c.413G>A, XM_011525772.3:c.413G>A, XM_011525772.2:c.413G>A, XM_011525772.1:c.413G>A, NM_005131.3:c.413G>A, NM_005131.2:c.413G>A, XM_017026104.2:c.413G>A, XM_017026104.1:c.413G>A, XM_047437972.1:c.-2G>A, XP_011524074.1:p.Arg138His, NP_005122.2:p.Arg138His, XP_016881593.1:p.Arg138His

Select item 14728289428.

rs1472828942 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 18:254286 (GRCh38)
18:254286 (GRCh37)
Canonical SPDI:: NC_000018.10:254285:G:C
Gene:: THOC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.254286G>C, NC_000018.9:g.254286G>C, XM_011525772.4:c.590C>G, XM_011525772.3:c.590C>G, XM_011525772.2:c.590C>G, XM_011525772.1:c.590C>G, NM_005131.3:c.590C>G, NM_005131.2:c.590C>G, XM_017026104.2:c.590C>G, XM_017026104.1:c.590C>G, XM_047437972.1:c.176C>G, XP_011524074.1:p.Thr197Ser, NP_005122.2:p.Thr197Ser, XP_016881593.1:p.Thr197Ser, XP_047293928.1:p.Thr59Ser

Select item 14716958359.

rs1471695835 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 18:246387 (GRCh38)
18:246387 (GRCh37)
Canonical SPDI:: NC_000018.10:246386:C:G
Gene:: THOC1 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.246387C>G, NC_000018.9:g.246387C>G, XM_011525772.4:c.855G>C, XM_011525772.3:c.855G>C, XM_011525772.2:c.855G>C, XM_011525772.1:c.855G>C, NM_005131.3:c.855G>C, NM_005131.2:c.855G>C, XM_017026104.2:c.855G>C, XM_017026104.1:c.855G>C, XM_047437972.1:c.441G>C, XP_011524074.1:p.Lys285Asn, NP_005122.2:p.Lys285Asn, XP_016881593.1:p.Lys285Asn, XP_047293928.1:p.Lys147Asn

Select item 147117883010.

rs1471178830 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:260283 (GRCh38)
18:260283 (GRCh37)
Canonical SPDI:: NC_000018.10:260282:G:A
Gene:: THOC1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.260283G>A, NC_000018.9:g.260283G>A, XM_011525772.4:c.278C>T, XM_011525772.3:c.278C>T, XM_011525772.2:c.278C>T, XM_011525772.1:c.278C>T, NM_005131.3:c.278C>T, NM_005131.2:c.278C>T, XM_017026104.2:c.278C>T, XM_017026104.1:c.278C>T, XM_047437972.1:c.-137C>T, XP_011524074.1:p.Pro93Leu, NP_005122.2:p.Pro93Leu, XP_016881593.1:p.Pro93Leu

Select item 146565628511.

rs1465656285 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 18:246408 (GRCh38)
18:246408 (GRCh37)
Canonical SPDI:: NC_000018.10:246407:A:C
Gene:: THOC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000018.10:g.246408A>C, NC_000018.9:g.246408A>C, XM_011525772.4:c.834T>G, XM_011525772.3:c.834T>G, XM_011525772.2:c.834T>G, XM_011525772.1:c.834T>G, NM_005131.3:c.834T>G, NM_005131.2:c.834T>G, XM_017026104.2:c.834T>G, XM_017026104.1:c.834T>G, XM_047437972.1:c.420T>G, XP_011524074.1:p.Asp278Glu, NP_005122.2:p.Asp278Glu, XP_016881593.1:p.Asp278Glu, XP_047293928.1:p.Asp140Glu

Select item 146500705312.

rs1465007053 [Homo sapiens]

Variant type:: DEL
Alleles:: GAGGCC>- [Show Flanks]
Chromosome:: 18:246397 (GRCh38)
18:246397 (GRCh37)
Canonical SPDI:: NC_000018.10:246396:GAGGCC:
Gene:: THOC1 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion,genic_upstream_transcript_variant,upstream_transcript_variant
HGVS:: NC_000018.10:g.246397_246402del, NC_000018.9:g.246397_246402del, XM_011525772.4:c.840_845del, XM_011525772.3:c.840_845del, XM_011525772.2:c.840_845del, XM_011525772.1:c.840_845del, NM_005131.3:c.840_845del, NM_005131.2:c.840_845del, XM_017026104.2:c.840_845del, XM_017026104.1:c.840_845del, XM_047437972.1:c.426_431del, XP_011524074.1:p.Ala281_Ser282del, NP_005122.2:p.Ala281_Ser282del, XP_016881593.1:p.Ala281_Ser282del, XP_047293928.1:p.Ala143_Ser144del

Select item 146040791313.

rs1460407913 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 18:252552 (GRCh38)
18:252552 (GRCh37)
Canonical SPDI:: NC_000018.10:252551:C:G
Gene:: THOC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000071/1 (TOMMO)
HGVS:: NC_000018.10:g.252552C>G, NC_000018.9:g.252552C>G, XM_011525772.4:c.664G>C, XM_011525772.3:c.664G>C, XM_011525772.2:c.664G>C, XM_011525772.1:c.664G>C, NM_005131.3:c.664G>C, NM_005131.2:c.664G>C, XM_017026104.2:c.664G>C, XM_017026104.1:c.664G>C, XM_047437972.1:c.250G>C, XP_011524074.1:p.Ala222Pro, NP_005122.2:p.Ala222Pro, XP_016881593.1:p.Ala222Pro, XP_047293928.1:p.Ala84Pro

Select item 145910570314.

rs1459105703 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:246382 (GRCh38)
18:246382 (GRCh37)
Canonical SPDI:: NC_000018.10:246381:T:C
Gene:: THOC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
C=0.001667/1 (NorthernSweden)
HGVS:: NC_000018.10:g.246382T>C, NC_000018.9:g.246382T>C, XM_011525772.4:c.860A>G, XM_011525772.3:c.860A>G, XM_011525772.2:c.860A>G, XM_011525772.1:c.860A>G, NM_005131.3:c.860A>G, NM_005131.2:c.860A>G, XM_017026104.2:c.860A>G, XM_017026104.1:c.860A>G, XM_047437972.1:c.446A>G, XP_011524074.1:p.Glu287Gly, NP_005122.2:p.Glu287Gly, XP_016881593.1:p.Glu287Gly, XP_047293928.1:p.Glu149Gly

Select item 145603331715.

rs1456033317 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 18:252539 (GRCh38)
18:252539 (GRCh37)
Canonical SPDI:: NC_000018.10:252538:C:A
Gene:: THOC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.252539C>A, NC_000018.9:g.252539C>A, XM_011525772.4:c.677G>T, XM_011525772.3:c.677G>T, XM_011525772.2:c.677G>T, XM_011525772.1:c.677G>T, NM_005131.3:c.677G>T, NM_005131.2:c.677G>T, XM_017026104.2:c.677G>T, XM_017026104.1:c.677G>T, XM_047437972.1:c.263G>T, XP_011524074.1:p.Cys226Phe, NP_005122.2:p.Cys226Phe, XP_016881593.1:p.Cys226Phe, XP_047293928.1:p.Cys88Phe

Select item 145459474016.

rs1454594740 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 18:265515 (GRCh38)
18:265515 (GRCh37)
Canonical SPDI:: NC_000018.10:265514:C:A
Gene:: THOC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.265515C>A, NC_000018.9:g.265515C>A, XM_011525772.4:c.70G>T, XM_011525772.3:c.70G>T, XM_011525772.2:c.70G>T, XM_011525772.1:c.70G>T, NM_005131.3:c.70G>T, NM_005131.2:c.70G>T, XM_017026104.2:c.70G>T, XM_017026104.1:c.70G>T, XP_011524074.1:p.Ala24Ser, NP_005122.2:p.Ala24Ser, XP_016881593.1:p.Ala24Ser

Select item 144481559417.

rs1444815594 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:252593 (GRCh38)
18:252593 (GRCh37)
Canonical SPDI:: NC_000018.10:252592:T:C
Gene:: THOC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_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_000018.10:g.252593T>C, NC_000018.9:g.252593T>C, XM_011525772.4:c.623A>G, XM_011525772.3:c.623A>G, XM_011525772.2:c.623A>G, XM_011525772.1:c.623A>G, NM_005131.3:c.623A>G, NM_005131.2:c.623A>G, XM_017026104.2:c.623A>G, XM_017026104.1:c.623A>G, XM_047437972.1:c.209A>G, XP_011524074.1:p.Glu208Gly, NP_005122.2:p.Glu208Gly, XP_016881593.1:p.Glu208Gly, XP_047293928.1:p.Glu70Gly

Select item 143829367518.

rs1438293675 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:265462 (GRCh38)
18:265462 (GRCh37)
Canonical SPDI:: NC_000018.10:265461:A:G
Gene:: THOC1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.265462A>G, NC_000018.9:g.265462A>G, XM_011525772.4:c.123T>C, XM_011525772.3:c.123T>C, XM_011525772.2:c.123T>C, XM_011525772.1:c.123T>C, NM_005131.3:c.123T>C, NM_005131.2:c.123T>C, XM_017026104.2:c.123T>C, XM_017026104.1:c.123T>C

Select item 143516747319.

rs1435167473 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:254331 (GRCh38)
18:254331 (GRCh37)
Canonical SPDI:: NC_000018.10:254330:T:C
Gene:: THOC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.254331T>C, NC_000018.9:g.254331T>C, XM_011525772.4:c.545A>G, XM_011525772.3:c.545A>G, XM_011525772.2:c.545A>G, XM_011525772.1:c.545A>G, NM_005131.3:c.545A>G, NM_005131.2:c.545A>G, XM_017026104.2:c.545A>G, XM_017026104.1:c.545A>G, XM_047437972.1:c.131A>G, XP_011524074.1:p.Asn182Ser, NP_005122.2:p.Asn182Ser, XP_016881593.1:p.Asn182Ser, XP_047293928.1:p.Asn44Ser

Select item 143393781920.

rs1433937819 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:265362 (GRCh38)
18:265362 (GRCh37)
Canonical SPDI:: NC_000018.10:265361:C:T
Gene:: THOC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00059/8 (ALFA)
T=0.00089/4 (Estonian)
HGVS:: NC_000018.10:g.265362C>T, NC_000018.9:g.265362C>T, XM_011525772.4:c.130G>A, XM_011525772.3:c.130G>A, XM_011525772.2:c.130G>A, XM_011525772.1:c.130G>A, NM_005131.3:c.130G>A, NM_005131.2:c.130G>A, XM_017026104.2:c.130G>A, XM_017026104.1:c.130G>A, XP_011524074.1:p.Glu44Lys, NP_005122.2:p.Glu44Lys, XP_016881593.1:p.Glu44Lys

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