SNP Links for Protein (Select 1003088693) - SNP

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:197453623 (GRCh38)
2:198318347 (GRCh37)
Canonical SPDI:: NC_000002.12:197453622:G:T
Gene:: COQ10B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.197453623G>T, NC_000002.11:g.198318347G>T, NM_025147.5:c.63G>T, NM_025147.4:c.63G>T, NM_025147.3:c.63G>T, NM_001320818.2:c.63G>T, NM_001320818.1:c.63G>T

Select item 14612388917.

rs1461238891 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 2:197473882 (GRCh38)
2:198338606 (GRCh37)
Canonical SPDI:: NC_000002.12:197473881:T:A,NC_000002.12:197473881:T:C
Gene:: COQ10B (Varview), LOC124907951 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.197473882T>A, NC_000002.12:g.197473882T>C, NC_000002.11:g.198338606T>A, NC_000002.11:g.198338606T>C, NM_025147.5:c.675T>A, NM_025147.5:c.675T>C, NM_025147.4:c.675T>A, NM_025147.4:c.675T>C, NM_025147.3:c.675T>A, NM_025147.3:c.675T>C, NM_001320820.2:c.546T>A, NM_001320820.2:c.546T>C, NM_001320820.1:c.546T>A, NM_001320820.1:c.546T>C, NM_001320819.2:c.591T>A, NM_001320819.2:c.591T>C, NM_001320819.1:c.591T>A, NM_001320819.1:c.591T>C, NM_001320818.2:c.525T>A, NM_001320818.2:c.525T>C, NM_001320818.1:c.525T>A, NM_001320818.1:c.525T>C, NP_079423.1:p.Asn225Lys, NP_001307749.1:p.Asn182Lys, NP_001307748.1:p.Asn197Lys, NP_001307747.1:p.Asn175Lys

Select item 14555224498.

rs1455522449 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:197473853 (GRCh38)
2:198338577 (GRCh37)
Canonical SPDI:: NC_000002.12:197473852:G:C
Gene:: COQ10B (Varview), LOC124907951 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.197473853G>C, NC_000002.11:g.198338577G>C, NM_025147.5:c.646G>C, NM_025147.4:c.646G>C, NM_025147.3:c.646G>C, NM_001320820.2:c.517G>C, NM_001320820.1:c.517G>C, NM_001320819.2:c.562G>C, NM_001320819.1:c.562G>C, NM_001320818.2:c.496G>C, NM_001320818.1:c.496G>C, NP_079423.1:p.Ala216Pro, NP_001307749.1:p.Ala173Pro, NP_001307748.1:p.Ala188Pro, NP_001307747.1:p.Ala166Pro

Select item 14439814169.

rs1443981416 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 2:197473804 (GRCh38)
2:198338528 (GRCh37)
Canonical SPDI:: NC_000002.12:197473803:C:A,NC_000002.12:197473803:C:G
Gene:: COQ10B (Varview), LOC124907951 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.197473804C>A, NC_000002.12:g.197473804C>G, NC_000002.11:g.198338528C>A, NC_000002.11:g.198338528C>G, NM_025147.5:c.597C>A, NM_025147.5:c.597C>G, NM_025147.4:c.597C>A, NM_025147.4:c.597C>G, NM_025147.3:c.597C>A, NM_025147.3:c.597C>G, NM_001320820.2:c.468C>A, NM_001320820.2:c.468C>G, NM_001320820.1:c.468C>A, NM_001320820.1:c.468C>G, NM_001320819.2:c.513C>A, NM_001320819.2:c.513C>G, NM_001320819.1:c.513C>A, NM_001320819.1:c.513C>G, NM_001320818.2:c.447C>A, NM_001320818.2:c.447C>G, NM_001320818.1:c.447C>A, NM_001320818.1:c.447C>G

Select item 143920541410.

rs1439205414 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:197453587 (GRCh38)
2:198318311 (GRCh37)
Canonical SPDI:: NC_000002.12:197453586:C:G
Gene:: COQ10B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.197453587C>G, NC_000002.11:g.198318311C>G, NM_025147.5:c.27C>G, NM_025147.4:c.27C>G, NM_025147.3:c.27C>G, NM_001320818.2:c.27C>G, NM_001320818.1:c.27C>G

Select item 143918647411.

rs1439186474 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TATATAATATATGCATACTTT [Show Flanks]
Chromosome:: 2:197462726 (GRCh38)
2:198327451 (GRCh37)
Canonical SPDI:: NC_000002.12:197462726:T:TTATATAATATATGCATACTTT
Gene:: COQ10B (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,inframe_insertion
HGVS:: NC_000002.12:g.197462727_197462728insTATATAATATATGCATACTTT, NC_000002.11:g.198327451_198327452insTATATAATATATGCATACTTT, NM_025147.5:c.443_444insTATATAATATATGCATACTTT, NM_025147.4:c.443_444insTATATAATATATGCATACTTT, NM_025147.3:c.443_444insTATATAATATATGCATACTTT, NM_001320820.2:c.314_315insTATATAATATATGCATACTTT, NM_001320820.1:c.314_315insTATATAATATATGCATACTTT, NM_001320819.2:c.359_360insTATATAATATATGCATACTTT, NM_001320819.1:c.359_360insTATATAATATATGCATACTTT, NM_001320818.2:c.293_294insTATATAATATATGCATACTTT, NM_001320818.1:c.293_294insTATATAATATATGCATACTTT, NP_079423.1:p.Lys149_Ala150insIleTer, NP_001307749.1:p.Lys106_Ala107insIleTer, NP_001307748.1:p.Lys121_Ala122insIleTer, NP_001307747.1:p.Lys99_Ala100insIleTer

Select item 143881348212.

rs1438813482 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:197462708 (GRCh38)
2:198327432 (GRCh37)
Canonical SPDI:: NC_000002.12:197462707:T:G
Gene:: COQ10B (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=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.197462708T>G, NC_000002.11:g.198327432T>G, NM_025147.5:c.424T>G, NM_025147.4:c.424T>G, NM_025147.3:c.424T>G, NM_001320820.2:c.295T>G, NM_001320820.1:c.295T>G, NM_001320819.2:c.340T>G, NM_001320819.1:c.340T>G, NM_001320818.2:c.274T>G, NM_001320818.1:c.274T>G, NP_079423.1:p.Leu142Val, NP_001307749.1:p.Leu99Val, NP_001307748.1:p.Leu114Val, NP_001307747.1:p.Leu92Val

Select item 142635574413.

rs1426355744 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:197470117 (GRCh38)
2:198334841 (GRCh37)
Canonical SPDI:: NC_000002.12:197470116:G:A
Gene:: COQ10B (Varview), LOC124907951 (Varview)
Functional Consequence:: intron_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.197470117G>A, NC_000002.11:g.198334841G>A, NM_025147.5:c.495G>A, NM_025147.4:c.495G>A, NM_025147.3:c.495G>A, NM_001320820.2:c.366G>A, NM_001320820.1:c.366G>A, NM_001320819.2:c.411G>A, NM_001320819.1:c.411G>A, NM_001320818.2:c.345G>A, NM_001320818.1:c.345G>A, NP_079423.1:p.Trp165Ter, NP_001307749.1:p.Trp122Ter, NP_001307748.1:p.Trp137Ter, NP_001307747.1:p.Trp115Ter

Select item 142405945114.

rs1424059451 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:197462639 (GRCh38)
2:198327363 (GRCh37)
Canonical SPDI:: NC_000002.12:197462638:G:C
Gene:: COQ10B (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_000002.12:g.197462639G>C, NC_000002.11:g.198327363G>C, NM_025147.5:c.355G>C, NM_025147.4:c.355G>C, NM_025147.3:c.355G>C, NM_001320820.2:c.226G>C, NM_001320820.1:c.226G>C, NM_001320819.2:c.271G>C, NM_001320819.1:c.271G>C, NM_001320818.2:c.205G>C, NM_001320818.1:c.205G>C, NP_079423.1:p.Gly119Arg, NP_001307749.1:p.Gly76Arg, NP_001307748.1:p.Gly91Arg, NP_001307747.1:p.Gly69Arg

Select item 142338117015.

rs1423381170 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:197473830 (GRCh38)
2:198338554 (GRCh37)
Canonical SPDI:: NC_000002.12:197473829:T:C
Gene:: COQ10B (Varview), LOC124907951 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.197473830T>C, NC_000002.11:g.198338554T>C, NM_025147.5:c.623T>C, NM_025147.4:c.623T>C, NM_025147.3:c.623T>C, NM_001320820.2:c.494T>C, NM_001320820.1:c.494T>C, NM_001320819.2:c.539T>C, NM_001320819.1:c.539T>C, NM_001320818.2:c.473T>C, NM_001320818.1:c.473T>C, NP_079423.1:p.Met208Thr, NP_001307749.1:p.Met165Thr, NP_001307748.1:p.Met180Thr, NP_001307747.1:p.Met158Thr

Select item 141409920616.

rs1414099206 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:197473846 (GRCh38)
2:198338570 (GRCh37)
Canonical SPDI:: NC_000002.12:197473845:A:C
Gene:: COQ10B (Varview), LOC124907951 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.197473846A>C, NC_000002.11:g.198338570A>C, NM_025147.5:c.639A>C, NM_025147.4:c.639A>C, NM_025147.3:c.639A>C, NM_001320820.2:c.510A>C, NM_001320820.1:c.510A>C, NM_001320819.2:c.555A>C, NM_001320819.1:c.555A>C, NM_001320818.2:c.489A>C, NM_001320818.1:c.489A>C, NP_079423.1:p.Glu213Asp, NP_001307749.1:p.Glu170Asp, NP_001307748.1:p.Glu185Asp, NP_001307747.1:p.Glu163Asp

Select item 141048016817.

rs1410480168 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:197462636 (GRCh38)
2:198327360 (GRCh37)
Canonical SPDI:: NC_000002.12:197462635:T:C
Gene:: COQ10B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.197462636T>C, NC_000002.11:g.198327360T>C, NM_025147.5:c.352T>C, NM_025147.4:c.352T>C, NM_025147.3:c.352T>C, NM_001320820.2:c.223T>C, NM_001320820.1:c.223T>C, NM_001320819.2:c.268T>C, NM_001320819.1:c.268T>C, NM_001320818.2:c.202T>C, NM_001320818.1:c.202T>C, NP_079423.1:p.Ser118Pro, NP_001307749.1:p.Ser75Pro, NP_001307748.1:p.Ser90Pro, NP_001307747.1:p.Ser68Pro

Select item 140891671718.

rs1408916717 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:197453564 (GRCh38)
2:198318288 (GRCh37)
Canonical SPDI:: NC_000002.12:197453563:G:A
Gene:: COQ10B (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.197453564G>A, NC_000002.11:g.198318288G>A, NM_025147.5:c.4G>A, NM_025147.4:c.4G>A, NM_025147.3:c.4G>A, NM_001320818.2:c.4G>A, NM_001320818.1:c.4G>A, NP_079423.1:p.Ala2Thr, NP_001307747.1:p.Ala2Thr

Select item 140103179519.

rs1401031795 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:197473866 (GRCh38)
2:198338590 (GRCh37)
Canonical SPDI:: NC_000002.12:197473865:A:G
Gene:: COQ10B (Varview), LOC124907951 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.197473866A>G, NC_000002.11:g.198338590A>G, NM_025147.5:c.659A>G, NM_025147.4:c.659A>G, NM_025147.3:c.659A>G, NM_001320820.2:c.530A>G, NM_001320820.1:c.530A>G, NM_001320819.2:c.575A>G, NM_001320819.1:c.575A>G, NM_001320818.2:c.509A>G, NM_001320818.1:c.509A>G, NP_079423.1:p.Tyr220Cys, NP_001307749.1:p.Tyr177Cys, NP_001307748.1:p.Tyr192Cys, NP_001307747.1:p.Tyr170Cys

Select item 139760109920.

rs1397601099 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:197453610 (GRCh38)
2:198318334 (GRCh37)
Canonical SPDI:: NC_000002.12:197453609:G:A
Gene:: COQ10B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.197453610G>A, NC_000002.11:g.198318334G>A, NM_025147.5:c.50G>A, NM_025147.4:c.50G>A, NM_025147.3:c.50G>A, NM_001320818.2:c.50G>A, NM_001320818.1:c.50G>A, NP_079423.1:p.Cys17Tyr, NP_001307747.1:p.Cys17Tyr

<< First< Prev

Page of 9

Next >Last >>

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 162

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity