SNP Links for Protein (Select 81295407) - SNP

Links from Protein

Items: 1 to 20 of 290

<< First< Prev

Page of 15

Next >Last >>

Select item 14908683291.

rs1490868329 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:23722706 (GRCh38)
X:23740823 (GRCh37)
Canonical SPDI:: NC_000023.11:23722705:G:A
Gene:: ACOT9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000006/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.23722706G>A, NC_000023.10:g.23740823G>A, NG_016780.2:g.25585C>T, NM_001033583.3:c.421C>T, NM_001033583.2:c.421C>T, NM_001037171.2:c.448C>T, NM_001037171.1:c.448C>T, NM_001330259.2:c.241C>T, NM_001330259.1:c.241C>T, NM_012332.1:c.322C>T, NP_001028755.2:p.Pro141Ser, NP_001032248.1:p.Pro150Ser, NP_001317188.1:p.Pro81Ser

Select item 14873599752.

rs1487359975 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:23705776 (GRCh38)
X:23723893 (GRCh37)
Canonical SPDI:: NC_000023.11:23705775:G:C
Gene:: ACOT9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.00001/1 (GnomAD)
C=0.000022/4 (GnomAD_exomes)
C=0.000038/10 (TOPMED)
HGVS:: NC_000023.11:g.23705776G>C, NC_000023.10:g.23723893G>C, NG_016780.2:g.42515C>G, NM_001033583.3:c.898C>G, NM_001033583.2:c.898C>G, NM_001037171.2:c.925C>G, NM_001037171.1:c.925C>G, NM_001330259.2:c.718C>G, NM_001330259.1:c.718C>G, NM_012332.1:c.799C>G, NP_001028755.2:p.His300Asp, NP_001032248.1:p.His309Asp, NP_001317188.1:p.His240Asp

Select item 14871773913.

rs1487177391 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:23713197 (GRCh38)
X:23731314 (GRCh37)
Canonical SPDI:: NC_000023.11:23713196:A:T
Gene:: ACOT9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.23713197A>T, NC_000023.10:g.23731314A>T, NG_016780.2:g.35094T>A, NM_001033583.3:c.573T>A, NM_001033583.2:c.573T>A, NM_001037171.2:c.600T>A, NM_001037171.1:c.600T>A, NM_001330259.2:c.393T>A, NM_001330259.1:c.393T>A, NM_012332.1:c.474T>A, NP_001028755.2:p.Asp191Glu, NP_001032248.1:p.Asp200Glu, NP_001317188.1:p.Asp131Glu

Select item 14858254374.

rs1485825437 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:23736006 (GRCh38)
X:23754123 (GRCh37)
Canonical SPDI:: NC_000023.11:23736005:A:G
Gene:: ACOT9 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.23736006A>G, NC_000023.10:g.23754123A>G, NG_016780.2:g.12285T>C, NM_001033583.3:c.31T>C, NM_001033583.2:c.31T>C, NM_001037171.2:c.31T>C, NM_001037171.1:c.31T>C

Select item 14854930765.

rs1485493076 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:23722716 (GRCh38)
X:23740833 (GRCh37)
Canonical SPDI:: NC_000023.11:23722715:G:A
Gene:: ACOT9 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.23722716G>A, NC_000023.10:g.23740833G>A, NG_016780.2:g.25575C>T, NM_001033583.3:c.411C>T, NM_001033583.2:c.411C>T, NM_001037171.2:c.438C>T, NM_001037171.1:c.438C>T, NM_001330259.2:c.231C>T, NM_001330259.1:c.231C>T, NM_012332.1:c.312C>T

Select item 14809872356.

rs1480987235 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:23730978 (GRCh38)
X:23749095 (GRCh37)
Canonical SPDI:: NC_000023.11:23730977:A:G
Gene:: ACOT9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.23730978A>G, NC_000023.10:g.23749095A>G, NG_016780.2:g.17313T>C, NM_001033583.3:c.173T>C, NM_001033583.2:c.173T>C, NM_001037171.2:c.200T>C, NM_001037171.1:c.200T>C, NM_001330259.2:c.-8T>C, NM_001330259.1:c.-8T>C, NM_012332.1:c.74T>C, NP_001028755.2:p.Val58Ala, NP_001032248.1:p.Val67Ala

Select item 14780812377.

rs1478081237 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:23703911 (GRCh38)
X:23722028 (GRCh37)
Canonical SPDI:: NC_000023.11:23703910:A:G
Gene:: ACOT9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.23703911A>G, NC_000023.10:g.23722028A>G, NG_016780.2:g.44380T>C, NM_001033583.3:c.1303T>C, NM_001033583.2:c.1303T>C, NM_001037171.2:c.1330T>C, NM_001037171.1:c.1330T>C, NM_001330259.2:c.1123T>C, NM_001330259.1:c.1123T>C, NM_012332.1:c.1204T>C, NP_001028755.2:p.Tyr435His, NP_001032248.1:p.Tyr444His, NP_001317188.1:p.Tyr375His

Select item 14774243658.

rs1477424365 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:23706730 (GRCh38)
X:23724847 (GRCh37)
Canonical SPDI:: NC_000023.11:23706729:C:T
Gene:: ACOT9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.23706730C>T, NC_000023.10:g.23724847C>T, NG_016780.2:g.41561G>A, NM_001033583.3:c.713G>A, NM_001033583.2:c.713G>A, NM_001037171.2:c.740G>A, NM_001037171.1:c.740G>A, NM_001330259.2:c.533G>A, NM_001330259.1:c.533G>A, NM_012332.1:c.614G>A, NP_001028755.2:p.Gly238Glu, NP_001032248.1:p.Gly247Glu, NP_001317188.1:p.Gly178Glu

Select item 14739720899.

rs1473972089 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: X:23705772 (GRCh38)
X:23723889 (GRCh37)
Canonical SPDI:: NC_000023.11:23705771:GGG:GG
Gene:: ACOT9 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.23705774del, NC_000023.10:g.23723891del, NG_016780.2:g.42519del, NM_001033583.3:c.902del, NM_001033583.2:c.902del, NM_001037171.2:c.929del, NM_001037171.1:c.929del, NM_001330259.2:c.722del, NM_001330259.1:c.722del, NM_012332.1:c.803del, NP_001028755.2:p.Pro301fs, NP_001032248.1:p.Pro310fs, NP_001317188.1:p.Pro241fs

Select item 147359818110.

rs1473598181 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:23713136 (GRCh38)
X:23731253 (GRCh37)
Canonical SPDI:: NC_000023.11:23713135:C:T
Gene:: ACOT9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.23713136C>T, NC_000023.10:g.23731253C>T, NG_016780.2:g.35155G>A, NM_001033583.3:c.634G>A, NM_001033583.2:c.634G>A, NM_001037171.2:c.661G>A, NM_001037171.1:c.661G>A, NM_001330259.2:c.454G>A, NM_001330259.1:c.454G>A, NM_012332.1:c.535G>A, NP_001028755.2:p.Gly212Arg, NP_001032248.1:p.Gly221Arg, NP_001317188.1:p.Gly152Arg

Select item 147047607611.

rs1470476076 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:23730856 (GRCh38)
X:23748973 (GRCh37)
Canonical SPDI:: NC_000023.11:23730855:C:T
Gene:: ACOT9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.23730856C>T, NC_000023.10:g.23748973C>T, NG_016780.2:g.17435G>A, NM_001033583.3:c.295G>A, NM_001033583.2:c.295G>A, NM_001037171.2:c.322G>A, NM_001037171.1:c.322G>A, NM_001330259.2:c.115G>A, NM_001330259.1:c.115G>A, NM_012332.1:c.196G>A, NP_001028755.2:p.Glu99Lys, NP_001032248.1:p.Glu108Lys, NP_001317188.1:p.Glu39Lys

Select item 146971465412.

rs1469714654 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:23730845 (GRCh38)
X:23748962 (GRCh37)
Canonical SPDI:: NC_000023.11:23730844:C:A
Gene:: ACOT9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000187/2 (ALFA)
A=0.000006/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.23730845C>A, NC_000023.10:g.23748962C>A, NG_016780.2:g.17446G>T, NM_001033583.3:c.306G>T, NM_001033583.2:c.306G>T, NM_001037171.2:c.333G>T, NM_001037171.1:c.333G>T, NM_001330259.2:c.126G>T, NM_001330259.1:c.126G>T, NM_012332.1:c.207G>T, NP_001028755.2:p.Glu102Asp, NP_001032248.1:p.Glu111Asp, NP_001317188.1:p.Glu42Asp

Select item 146482557513.

rs1464825575 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:23721936 (GRCh38)
X:23740053 (GRCh37)
Canonical SPDI:: NC_000023.11:23721935:C:T
Gene:: ACOT9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.23721936C>T, NC_000023.10:g.23740053C>T, NG_016780.2:g.26355G>A, NM_001033583.3:c.506G>A, NM_001033583.2:c.506G>A, NM_001037171.2:c.533G>A, NM_001037171.1:c.533G>A, NM_001330259.2:c.326G>A, NM_001330259.1:c.326G>A, NM_012332.1:c.407G>A, NP_001028755.2:p.Gly169Asp, NP_001032248.1:p.Gly178Asp, NP_001317188.1:p.Gly109Asp

Select item 145761574814.

rs1457615748 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:23705020 (GRCh38)
X:23723137 (GRCh37)
Canonical SPDI:: NC_000023.11:23705019:A:T
Gene:: ACOT9 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.23705020A>T, NC_000023.10:g.23723137A>T, NG_016780.2:g.43271T>A, NM_001033583.3:c.1053T>A, NM_001033583.2:c.1053T>A, NM_001037171.2:c.1080T>A, NM_001037171.1:c.1080T>A, NM_001330259.2:c.873T>A, NM_001330259.1:c.873T>A, NM_012332.1:c.954T>A

Select item 145539257315.

rs1455392573 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:23735979 (GRCh38)
X:23754096 (GRCh37)
Canonical SPDI:: NC_000023.11:23735978:T:C
Gene:: ACOT9 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.23735979T>C, NC_000023.10:g.23754096T>C, NG_016780.2:g.12312A>G, NM_001033583.3:c.58A>G, NM_001033583.2:c.58A>G, NM_001037171.2:c.58A>G, NM_001037171.1:c.58A>G, NP_001028755.2:p.Arg20Gly, NP_001032248.1:p.Arg20Gly

Select item 145383988316.

rs1453839883 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:23706662 (GRCh38)
X:23724779 (GRCh37)
Canonical SPDI:: NC_000023.11:23706661:T:C
Gene:: ACOT9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.23706662T>C, NC_000023.10:g.23724779T>C, NG_016780.2:g.41629A>G, NM_001033583.3:c.781A>G, NM_001033583.2:c.781A>G, NM_001037171.2:c.808A>G, NM_001037171.1:c.808A>G, NM_001330259.2:c.601A>G, NM_001330259.1:c.601A>G, NM_012332.1:c.682A>G, NP_001028755.2:p.Ile261Val, NP_001032248.1:p.Ile270Val, NP_001317188.1:p.Ile201Val

Select item 145368679417.

rs1453686794 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:23730564 (GRCh38)
X:23748681 (GRCh37)
Canonical SPDI:: NC_000023.11:23730563:T:C
Gene:: ACOT9 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.23730564T>C, NC_000023.10:g.23748681T>C, NG_016780.2:g.17727A>G, NM_001033583.3:c.336A>G, NM_001033583.2:c.336A>G, NM_001037171.2:c.363A>G, NM_001037171.1:c.363A>G, NM_001330259.2:c.156A>G, NM_001330259.1:c.156A>G, NM_012332.1:c.237A>G

Select item 145074569118.

rs1450745691 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:23703902 (GRCh38)
X:23722019 (GRCh37)
Canonical SPDI:: NC_000023.11:23703901:C:T
Gene:: ACOT9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.23703902C>T, NC_000023.10:g.23722019C>T, NG_016780.2:g.44389G>A, NM_001033583.3:c.1312G>A, NM_001033583.2:c.1312G>A, NM_001037171.2:c.1339G>A, NM_001037171.1:c.1339G>A, NM_001330259.2:c.1132G>A, NM_001330259.1:c.1132G>A, NM_012332.1:c.1213G>A, NP_001028755.2:p.Glu438Lys, NP_001032248.1:p.Glu447Lys, NP_001317188.1:p.Glu378Lys

Select item 144254483719.

rs1442544837 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:23705541 (GRCh38)
X:23723658 (GRCh37)
Canonical SPDI:: NC_000023.11:23705540:A:C
Gene:: ACOT9 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.23705541A>C, NC_000023.10:g.23723658A>C, NG_016780.2:g.42750T>G, NM_001033583.3:c.960T>G, NM_001033583.2:c.960T>G, NM_001037171.2:c.987T>G, NM_001037171.1:c.987T>G, NM_001330259.2:c.780T>G, NM_001330259.1:c.780T>G, NM_012332.1:c.861T>G, NP_001028755.2:p.Tyr320Ter, NP_001032248.1:p.Tyr329Ter, NP_001317188.1:p.Tyr260Ter

Select item 143799768520.

rs1437997685 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:23705785 (GRCh38)
X:23723902 (GRCh37)
Canonical SPDI:: NC_000023.11:23705784:C:T
Gene:: ACOT9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.23705785C>T, NC_000023.10:g.23723902C>T, NG_016780.2:g.42506G>A, NM_001033583.3:c.889G>A, NM_001033583.2:c.889G>A, NM_001037171.2:c.916G>A, NM_001037171.1:c.916G>A, NM_001330259.2:c.709G>A, NM_001330259.1:c.709G>A, NM_012332.1:c.790G>A, NP_001028755.2:p.Glu297Lys, NP_001032248.1:p.Glu306Lys, NP_001317188.1:p.Glu237Lys

<< First< Prev

Page of 15

Next >Last >>

dbSNP

Result Filters

Clinical Significance

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 290

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity