SNP Links for Protein (Select 1034659069) - SNP

Warning: The NCBI web site requires JavaScript to function. more...

Links from Protein

Items: 1 to 20 of 71

<< First< Prev

Page of 4

Next >Last >>

Select item 14452611551.

rs1445261155 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 8:99891983 (GRCh38)
8:100904211 (GRCh37)
Canonical SPDI:: NC_000008.11:99891982:G:A,NC_000008.11:99891982:G:T
Gene:: COX6C (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.99891983G>A, NC_000008.11:g.99891983G>T, NC_000008.10:g.100904211G>A, NC_000008.10:g.100904211G>T, NM_004374.4:c.39C>T, NM_004374.4:c.39C>A, NM_004374.3:c.39C>T, NM_004374.3:c.39C>A, XM_017013020.2:c.39C>T, XM_017013020.2:c.39C>A, XM_017013020.1:c.39C>T, XM_017013020.1:c.39C>A

Select item 14295982832.

rs1429598283 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:99891969 (GRCh38)
8:100904197 (GRCh37)
Canonical SPDI:: NC_000008.11:99891968:C:T
Gene:: COX6C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000026/7 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000008.11:g.99891969C>T, NC_000008.10:g.100904197C>T, NM_004374.4:c.53G>A, NM_004374.3:c.53G>A, XM_017013020.2:c.53G>A, XM_017013020.1:c.53G>A, NP_004365.1:p.Arg18His, XP_016868509.1:p.Arg18His

Select item 14245896193.

rs1424589619 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:99887534 (GRCh38)
8:100899762 (GRCh37)
Canonical SPDI:: NC_000008.11:99887533:T:C
Gene:: COX6C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000008.11:g.99887534T>C, NC_000008.10:g.100899762T>C, NM_004374.4:c.199A>G, NM_004374.3:c.199A>G, XM_017013020.2:c.199A>G, XM_017013020.1:c.199A>G, NP_004365.1:p.Lys67Glu, XP_016868509.1:p.Lys67Glu

Select item 14122388684.

rs1412238868 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:99891979 (GRCh38)
8:100904207 (GRCh37)
Canonical SPDI:: NC_000008.11:99891978:G:C
Gene:: COX6C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.99891979G>C, NC_000008.10:g.100904207G>C, NM_004374.4:c.43C>G, NM_004374.3:c.43C>G, XM_017013020.2:c.43C>G, XM_017013020.1:c.43C>G, NP_004365.1:p.Leu15Val, XP_016868509.1:p.Leu15Val

Select item 13993279545.

rs1399327954 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:99891971 (GRCh38)
8:100904199 (GRCh37)
Canonical SPDI:: NC_000008.11:99891970:C:G,NC_000008.11:99891970:C:T
Gene:: COX6C (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
G=0.000035/1 (TOMMO)
HGVS:: NC_000008.11:g.99891971C>G, NC_000008.11:g.99891971C>T, NC_000008.10:g.100904199C>G, NC_000008.10:g.100904199C>T, NM_004374.4:c.51G>C, NM_004374.4:c.51G>A, NM_004374.3:c.51G>C, NM_004374.3:c.51G>A, XM_017013020.2:c.51G>C, XM_017013020.2:c.51G>A, XM_017013020.1:c.51G>C, XM_017013020.1:c.51G>A, NP_004365.1:p.Arg17Ser, XP_016868509.1:p.Arg17Ser

Select item 13566691146.

rs1356669114 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:99891912 (GRCh38)
8:100904140 (GRCh37)
Canonical SPDI:: NC_000008.11:99891911:T:C
Gene:: COX6C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000071/1 (TOMMO)
HGVS:: NC_000008.11:g.99891912T>C, NC_000008.10:g.100904140T>C, NM_004374.4:c.110A>G, NM_004374.3:c.110A>G, XM_017013020.2:c.110A>G, XM_017013020.1:c.110A>G, NP_004365.1:p.Tyr37Cys, XP_016868509.1:p.Tyr37Cys

Select item 13413051177.

rs1341305117 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:99891948 (GRCh38)
8:100904176 (GRCh37)
Canonical SPDI:: NC_000008.11:99891947:A:C
Gene:: COX6C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.0016/3 (Korea1K)
HGVS:: NC_000008.11:g.99891948A>C, NC_000008.10:g.100904176A>C, NM_004374.4:c.74T>G, NM_004374.3:c.74T>G, XM_017013020.2:c.74T>G, XM_017013020.1:c.74T>G, NP_004365.1:p.Val25Gly, XP_016868509.1:p.Val25Gly

Select item 13196542638.

rs1319654263 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:99887550 (GRCh38)
8:100899778 (GRCh37)
Canonical SPDI:: NC_000008.11:99887549:A:C
Gene:: COX6C (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=0.000142/2 (TOMMO)
HGVS:: NC_000008.11:g.99887550A>C, NC_000008.10:g.100899778A>C, NM_004374.4:c.183T>G, NM_004374.3:c.183T>G, XM_017013020.2:c.183T>G, XM_017013020.1:c.183T>G, NP_004365.1:p.Asp61Glu, XP_016868509.1:p.Asp61Glu

Select item 12997092599.

rs1299709259 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:99892000 (GRCh38)
8:100904228 (GRCh37)
Canonical SPDI:: NC_000008.11:99891999:T:C
Gene:: COX6C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.99892000T>C, NC_000008.10:g.100904228T>C, NM_004374.4:c.22A>G, NM_004374.3:c.22A>G, XM_017013020.2:c.22A>G, XM_017013020.1:c.22A>G, NP_004365.1:p.Lys8Glu, XP_016868509.1:p.Lys8Glu

Select item 128322157810.

rs1283221578 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:99891908 (GRCh38)
8:100904136 (GRCh37)
Canonical SPDI:: NC_000008.11:99891907:C:G
Gene:: COX6C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.99891908C>G, NC_000008.10:g.100904136C>G, NM_004374.4:c.114G>C, NM_004374.3:c.114G>C, XM_017013020.2:c.114G>C, XM_017013020.1:c.114G>C, NP_004365.1:p.Lys38Asn, XP_016868509.1:p.Lys38Asn

Select item 126804289811.

rs1268042898 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAGA>- [Show Flanks]
Chromosome:: 8:99887521 (GRCh38)
8:100899749 (GRCh37)
Canonical SPDI:: NC_000008.11:99887518:GAAAGA:GA
Gene:: COX6C (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: GA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.99887521_99887524del, NC_000008.10:g.100899749_100899752del, NM_004374.4:c.211_214del, NM_004374.3:c.211_214del, XM_017013020.2:c.211_214del, XM_017013020.1:c.211_214del, NP_004365.1:p.Phe71fs, XP_016868509.1:p.Phe71fs

Select item 124896073612.

rs1248960736 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:99887516 (GRCh38)
8:100899744 (GRCh37)
Canonical SPDI:: NC_000008.11:99887515:T:C
Gene:: COX6C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.99887516T>C, NC_000008.10:g.100899744T>C, NM_004374.4:c.217A>G, NM_004374.3:c.217A>G, XM_017013020.2:c.217A>G, XM_017013020.1:c.217A>G, NP_004365.1:p.Ser73Gly, XP_016868509.1:p.Ser73Gly

Select item 124462846213.

rs1244628462 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:99891918 (GRCh38)
8:100904146 (GRCh37)
Canonical SPDI:: NC_000008.11:99891917:G:A
Gene:: COX6C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.99891918G>A, NC_000008.10:g.100904146G>A, NM_004374.4:c.104C>T, NM_004374.3:c.104C>T, XM_017013020.2:c.104C>T, XM_017013020.1:c.104C>T, NP_004365.1:p.Ala35Val, XP_016868509.1:p.Ala35Val

Select item 122978331314.

rs1229783313 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:99891914 (GRCh38)
8:100904142 (GRCh37)
Canonical SPDI:: NC_000008.11:99891913:C:T
Gene:: COX6C (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000008.11:g.99891914C>T, NC_000008.10:g.100904142C>T, NM_004374.4:c.108G>A, NM_004374.3:c.108G>A, XM_017013020.2:c.108G>A, XM_017013020.1:c.108G>A

Select item 122607974215.

rs1226079742 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:99887536 (GRCh38)
8:100899764 (GRCh37)
Canonical SPDI:: NC_000008.11:99887535:C:T
Gene:: COX6C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.99887536C>T, NC_000008.10:g.100899764C>T, NM_004374.4:c.197G>A, NM_004374.3:c.197G>A, XM_017013020.2:c.197G>A, XM_017013020.1:c.197G>A, NP_004365.1:p.Arg66Lys, XP_016868509.1:p.Arg66Lys

Select item 121928804016.

rs1219288040 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:99887563 (GRCh38)
8:100899791 (GRCh37)
Canonical SPDI:: NC_000008.11:99887562:T:C
Gene:: COX6C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.99887563T>C, NC_000008.10:g.100899791T>C, NM_004374.4:c.170A>G, NM_004374.3:c.170A>G, XM_017013020.2:c.170A>G, XM_017013020.1:c.170A>G, NP_004365.1:p.Asp57Gly, XP_016868509.1:p.Asp57Gly

Select item 117676914017.

rs1176769140 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 8:99887540 (GRCh38)
8:100899768 (GRCh37)
Canonical SPDI:: NC_000008.11:99887539:T:A,NC_000008.11:99887539:T:C
Gene:: COX6C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.99887540T>A, NC_000008.11:g.99887540T>C, NC_000008.10:g.100899768T>A, NC_000008.10:g.100899768T>C, NM_004374.4:c.193A>T, NM_004374.4:c.193A>G, NM_004374.3:c.193A>T, NM_004374.3:c.193A>G, XM_017013020.2:c.193A>T, XM_017013020.2:c.193A>G, XM_017013020.1:c.193A>T, XM_017013020.1:c.193A>G, NP_004365.1:p.Met65Leu, NP_004365.1:p.Met65Val, XP_016868509.1:p.Met65Leu, XP_016868509.1:p.Met65Val

Select item 115914943918.

rs1159149439 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:99887600 (GRCh38)
8:100899828 (GRCh37)
Canonical SPDI:: NC_000008.11:99887599:T:C
Gene:: COX6C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.99887600T>C, NC_000008.10:g.100899828T>C, NM_004374.4:c.133A>G, NM_004374.3:c.133A>G, XM_017013020.2:c.133A>G, XM_017013020.1:c.133A>G, NP_004365.1:p.Arg45Gly, XP_016868509.1:p.Arg45Gly

Select item 103587412719.

rs1035874127 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:99887561 (GRCh38)
8:100899789 (GRCh37)
Canonical SPDI:: NC_000008.11:99887560:C:T
Gene:: COX6C (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=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.99887561C>T, NC_000008.10:g.100899789C>T, NM_004374.4:c.172G>A, NM_004374.3:c.172G>A, XM_017013020.2:c.172G>A, XM_017013020.1:c.172G>A, NP_004365.1:p.Val58Ile, XP_016868509.1:p.Val58Ile

Select item 101522737520.

rs1015227375 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:99891941 (GRCh38)
8:100904169 (GRCh37)
Canonical SPDI:: NC_000008.11:99891940:G:A
Gene:: COX6C (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=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.99891941G>A, NC_000008.10:g.100904169G>A, NM_004374.4:c.81C>T, NM_004374.3:c.81C>T, XM_017013020.2:c.81C>T, XM_017013020.1:c.81C>T

<< First< Prev

Page of 4

Next >Last >>

Supplemental Content

Filters: Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

SNP Links for Protein (Select 1034659069) (71)
SNP

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

dbSNP

Result Filters

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to: