SNP Links for Protein (Select 226492892) - SNP

Links from Protein

Items: 1 to 20 of 583

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Select item 14900489031.

rs1490048903 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:15021419 (GRCh38)
19:15132231 (GRCh37)
Canonical SPDI:: NC_000019.10:15021418:T:C
Gene:: CCDC105 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.15021419T>C, NC_000019.9:g.15132231T>C, NM_173482.3:c.941T>C, NM_173482.2:c.941T>C, NP_775753.2:p.Met314Thr

Select item 14895522702.

rs1489552270 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:15021482 (GRCh38)
19:15132294 (GRCh37)
Canonical SPDI:: NC_000019.10:15021481:C:T
Gene:: CCDC105 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.15021482C>T, NC_000019.9:g.15132294C>T, NM_173482.3:c.1004C>T, NM_173482.2:c.1004C>T, NP_775753.2:p.Ser335Leu

Select item 14890169663.

rs1489016966 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:15011117 (GRCh38)
19:15121929 (GRCh37)
Canonical SPDI:: NC_000019.10:15011116:G:T
Gene:: SLC1A6 (Varview), CCDC105 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_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_000019.10:g.15011117G>T, NC_000019.9:g.15121929G>T, NM_173482.3:c.292G>T, NM_173482.2:c.292G>T, NP_775753.2:p.Gly98Cys

Select item 14888434804.

rs1488843480 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:15020469 (GRCh38)
19:15131281 (GRCh37)
Canonical SPDI:: NC_000019.10:15020468:C:T
Gene:: CCDC105 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.15020469C>T, NC_000019.9:g.15131281C>T, NM_173482.3:c.684C>T, NM_173482.2:c.684C>T

Select item 14863133825.

rs1486313382 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:15011175 (GRCh38)
19:15121987 (GRCh37)
Canonical SPDI:: NC_000019.10:15011174:C:T
Gene:: SLC1A6 (Varview), CCDC105 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.00002/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.15011175C>T, NC_000019.9:g.15121987C>T, NM_173482.3:c.350C>T, NM_173482.2:c.350C>T, NP_775753.2:p.Ala117Val

Select item 14847324606.

rs1484732460 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:15011281 (GRCh38)
19:15122093 (GRCh37)
Canonical SPDI:: NC_000019.10:15011280:A:G
Gene:: SLC1A6 (Varview), CCDC105 (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.15011281A>G, NC_000019.9:g.15122093A>G, NM_173482.3:c.456A>G, NM_173482.2:c.456A>G

Select item 14840461967.

rs1484046196 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:15011026 (GRCh38)
19:15121838 (GRCh37)
Canonical SPDI:: NC_000019.10:15011025:C:A
Gene:: SLC1A6 (Varview), CCDC105 (Varview)
Functional Consequence:: 2KB_upstream_variant,stop_gained,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.15011026C>A, NC_000019.9:g.15121838C>A, NM_173482.3:c.201C>A, NM_173482.2:c.201C>A, NP_775753.2:p.Tyr67Ter

Select item 14816011548.

rs1481601154 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:15011296 (GRCh38)
19:15122108 (GRCh37)
Canonical SPDI:: NC_000019.10:15011295:G:A
Gene:: SLC1A6 (Varview), CCDC105 (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.15011296G>A, NC_000019.9:g.15122108G>A, NM_173482.3:c.471G>A, NM_173482.2:c.471G>A

Select item 14790250739.

rs1479025073 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:15022895 (GRCh38)
19:15133707 (GRCh37)
Canonical SPDI:: NC_000019.10:15022894:A:G
Gene:: CCDC105 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000019.10:g.15022895A>G, NC_000019.9:g.15133707A>G, NM_173482.3:c.1276A>G, NM_173482.2:c.1276A>G, NP_775753.2:p.Ile426Val

Select item 147585066710.

rs1475850667 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:15013717 (GRCh38)
19:15124529 (GRCh37)
Canonical SPDI:: NC_000019.10:15013716:C:T
Gene:: CCDC105 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.15013717C>T, NC_000019.9:g.15124529C>T, NM_173482.3:c.616C>T, NM_173482.2:c.616C>T

Select item 147546425511.

rs1475464255 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:15022942 (GRCh38)
19:15133754 (GRCh37)
Canonical SPDI:: NC_000019.10:15022941:G:T
Gene:: CCDC105 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.15022942G>T, NC_000019.9:g.15133754G>T, NM_173482.3:c.1323G>T, NM_173482.2:c.1323G>T, NP_775753.2:p.Lys441Asn

Select item 147417600412.

rs1474176004 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:15011236 (GRCh38)
19:15122048 (GRCh37)
Canonical SPDI:: NC_000019.10:15011235:C:A,NC_000019.10:15011235:C:T
Gene:: SLC1A6 (Varview), CCDC105 (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.0002/1 (1000Genomes)
HGVS:: NC_000019.10:g.15011236C>A, NC_000019.10:g.15011236C>T, NC_000019.9:g.15122048C>A, NC_000019.9:g.15122048C>T, NM_173482.3:c.411C>A, NM_173482.3:c.411C>T, NM_173482.2:c.411C>A, NM_173482.2:c.411C>T

Select item 147029839513.

rs1470298395 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:15010837 (GRCh38)
19:15121649 (GRCh37)
Canonical SPDI:: NC_000019.10:15010836:G:A,NC_000019.10:15010836:G:T
Gene:: SLC1A6 (Varview), CCDC105 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.15010837G>A, NC_000019.10:g.15010837G>T, NC_000019.9:g.15121649G>A, NC_000019.9:g.15121649G>T, NM_173482.3:c.12G>A, NM_173482.3:c.12G>T, NM_173482.2:c.12G>A, NM_173482.2:c.12G>T, NP_775753.2:p.Leu4Phe

Select item 147010732214.

rs1470107322 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:15011100 (GRCh38)
19:15121912 (GRCh37)
Canonical SPDI:: NC_000019.10:15011099:G:C
Gene:: SLC1A6 (Varview), CCDC105 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000006/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.15011100G>C, NC_000019.9:g.15121912G>C, NM_173482.3:c.275G>C, NM_173482.2:c.275G>C, NP_775753.2:p.Gly92Ala

Select item 146999231515.

rs1469992315 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:15020554 (GRCh38)
19:15131366 (GRCh37)
Canonical SPDI:: NC_000019.10:15020553:G:C
Gene:: CCDC105 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.15020554G>C, NC_000019.9:g.15131366G>C, NM_173482.3:c.769G>C, NM_173482.2:c.769G>C, NP_775753.2:p.Glu257Gln

Select item 146672324216.

rs1466723242 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:15011249 (GRCh38)
19:15122061 (GRCh37)
Canonical SPDI:: NC_000019.10:15011248:C:G
Gene:: SLC1A6 (Varview), CCDC105 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000019.10:g.15011249C>G, NC_000019.9:g.15122061C>G, NM_173482.3:c.424C>G, NM_173482.2:c.424C>G, NP_775753.2:p.Arg142Gly

Select item 146627888917.

rs1466278889 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:15011250 (GRCh38)
19:15122062 (GRCh37)
Canonical SPDI:: NC_000019.10:15011249:G:A
Gene:: SLC1A6 (Varview), CCDC105 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000019.10:g.15011250G>A, NC_000019.9:g.15122062G>A, NM_173482.3:c.425G>A, NM_173482.2:c.425G>A, NP_775753.2:p.Arg142His

Select item 146493746918.

rs1464937469 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:15020513 (GRCh38)
19:15131325 (GRCh37)
Canonical SPDI:: NC_000019.10:15020512:A:C
Gene:: CCDC105 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000019.10:g.15020513A>C, NC_000019.9:g.15131325A>C, NM_173482.3:c.728A>C, NM_173482.2:c.728A>C, NP_775753.2:p.Gln243Pro

Select item 146472753819.

rs1464727538 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:15021701 (GRCh38)
19:15132513 (GRCh37)
Canonical SPDI:: NC_000019.10:15021700:G:A
Gene:: CCDC105 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000019.10:g.15021701G>A, NC_000019.9:g.15132513G>A, NM_173482.3:c.1127G>A, NM_173482.2:c.1127G>A, NP_775753.2:p.Gly376Asp

Select item 146450962520.

rs1464509625 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 19:15020574 (GRCh38)
19:15131386 (GRCh37)
Canonical SPDI:: NC_000019.10:15020573:A:C,NC_000019.10:15020573:A:T
Gene:: CCDC105 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.15020574A>C, NC_000019.10:g.15020574A>T, NC_000019.9:g.15131386A>C, NC_000019.9:g.15131386A>T, NM_173482.3:c.789A>C, NM_173482.3:c.789A>T, NM_173482.2:c.789A>C, NM_173482.2:c.789A>T

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