SNP Links for Protein (Select 119220562) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 631

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Select item 14894428301.

rs1489442830 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:15641597 (GRCh38)
19:15752407 (GRCh37)
Canonical SPDI:: NC_000019.10:15641596:T:G
Gene:: CYP4F3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.15641597T>G, NC_000019.9:g.15752407T>G, NG_007964.1:g.5701T>G, NM_000896.3:c.182T>G, NM_000896.2:c.182T>G, NM_001199208.2:c.182T>G, NM_001199208.1:c.182T>G, NM_001199209.2:c.182T>G, NM_001199209.1:c.182T>G, NM_001369696.1:c.182T>G, XM_017026815.2:c.182T>G, XM_017026815.1:c.182T>G, XM_047438840.1:c.-212T>G, NP_000887.2:p.Leu61Trp, NP_001186137.1:p.Leu61Trp, NP_001186138.1:p.Leu61Trp, NP_001356625.1:p.Leu61Trp, XP_016882304.1:p.Leu61Trp

Select item 14818310492.

rs1481831049 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATTGAATGG [Show Flanks]
Chromosome:: 19:15652943 (GRCh38)
19:15763754 (GRCh37)
Canonical SPDI:: NC_000019.10:15652943:GATTGAATGG:GATTGAATGGATTGAATGG
Gene:: CYP4F3 (Varview)
Functional Consequence:: splice_donor_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GATTGAATGGATTGAATGG=0./0 (ALFA)
GATTGAATG=0.000008/2 (GnomAD_exomes)
GATTGAATG=0.000014/2 (GnomAD)
GATTGAATG=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.15652945_15652953dup, NC_000019.9:g.15763755_15763763dup, NG_007964.1:g.17049_17057dup

Select item 14798967863.

rs1479896786 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:15645793 (GRCh38)
19:15756603 (GRCh37)
Canonical SPDI:: NC_000019.10:15645792:G:C
Gene:: CYP4F3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.15645793G>C, NC_000019.9:g.15756603G>C, NG_007964.1:g.9897G>C, NM_000896.3:c.273G>C, NM_000896.2:c.273G>C, XM_011528014.4:c.-200G>C, XM_011528014.3:c.-200G>C, XM_011528014.2:c.-200G>C, XM_011528014.1:c.-200G>C, NP_000887.2:p.Trp91Cys

Select item 14795344354.

rs1479534435 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:15650084 (GRCh38)
19:15760894 (GRCh37)
Canonical SPDI:: NC_000019.10:15650083:G:C
Gene:: CYP4F3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.15650084G>C, NC_000019.9:g.15760894G>C, NG_007964.1:g.14188G>C, NM_000896.3:c.819G>C, NM_000896.2:c.819G>C, NM_001199208.2:c.819G>C, NM_001199208.1:c.819G>C, NM_001199209.2:c.819G>C, NM_001199209.1:c.819G>C, NM_001369696.1:c.819G>C, XM_011528014.4:c.372G>C, XM_011528014.3:c.372G>C, XM_011528014.2:c.372G>C, XM_011528014.1:c.372G>C, XM_017026815.2:c.819G>C, XM_017026815.1:c.819G>C, XM_047438840.1:c.372G>C, NP_000887.2:p.Glu273Asp, NP_001186137.1:p.Glu273Asp, NP_001186138.1:p.Glu273Asp, NP_001356625.1:p.Glu273Asp, XP_011526316.1:p.Glu124Asp, XP_016882304.1:p.Glu273Asp, XP_047294796.1:p.Glu124Asp

Select item 14738618095.

rs1473861809 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:15652854 (GRCh38)
19:15763664 (GRCh37)
Canonical SPDI:: NC_000019.10:15652853:G:A
Gene:: CYP4F3 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.15652854G>A, NC_000019.9:g.15763664G>A, NG_007964.1:g.16958G>A, NM_000896.3:c.1017G>A, NM_000896.2:c.1017G>A, NM_001199208.2:c.1017G>A, NM_001199208.1:c.1017G>A, NM_001199209.2:c.1017G>A, NM_001199209.1:c.1017G>A, NM_001369696.1:c.1017G>A, XM_011528014.4:c.570G>A, XM_011528014.3:c.570G>A, XM_011528014.2:c.570G>A, XM_011528014.1:c.570G>A, XM_017026815.2:c.1017G>A, XM_017026815.1:c.1017G>A, XM_047438840.1:c.570G>A, NP_000887.2:p.Trp339Ter, NP_001186137.1:p.Trp339Ter, NP_001186138.1:p.Trp339Ter, NP_001356625.1:p.Trp339Ter, XP_011526316.1:p.Trp190Ter, XP_016882304.1:p.Trp339Ter, XP_047294796.1:p.Trp190Ter

Select item 14722497996.

rs1472249799 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:15658391 (GRCh38)
19:15769201 (GRCh37)
Canonical SPDI:: NC_000019.10:15658390:C:A
Gene:: CYP4F3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.15658391C>A, NC_000019.9:g.15769201C>A, NG_007964.1:g.22495C>A, NM_000896.3:c.1243C>A, NM_000896.2:c.1243C>A, NM_001199208.2:c.1243C>A, NM_001199208.1:c.1243C>A, NM_001199209.2:c.1243C>A, NM_001199209.1:c.1243C>A, NM_001369696.1:c.1243C>A, XM_011528014.4:c.796C>A, XM_011528014.3:c.796C>A, XM_011528014.2:c.796C>A, XM_011528014.1:c.796C>A, XM_047438840.1:c.796C>A, NP_000887.2:p.Pro415Thr, NP_001186137.1:p.Pro415Thr, NP_001186138.1:p.Pro415Thr, NP_001356625.1:p.Pro415Thr, XP_011526316.1:p.Pro266Thr, XP_047294796.1:p.Pro266Thr

Select item 14722389637.

rs1472238963 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:15652844 (GRCh38)
19:15763654 (GRCh37)
Canonical SPDI:: NC_000019.10:15652843:G:A,NC_000019.10:15652843:G:T
Gene:: CYP4F3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.15652844G>A, NC_000019.10:g.15652844G>T, NC_000019.9:g.15763654G>A, NC_000019.9:g.15763654G>T, NG_007964.1:g.16948G>A, NG_007964.1:g.16948G>T, NM_000896.3:c.1007G>A, NM_000896.3:c.1007G>T, NM_000896.2:c.1007G>A, NM_000896.2:c.1007G>T, NM_001199208.2:c.1007G>A, NM_001199208.2:c.1007G>T, NM_001199208.1:c.1007G>A, NM_001199208.1:c.1007G>T, NM_001199209.2:c.1007G>A, NM_001199209.2:c.1007G>T, NM_001199209.1:c.1007G>A, NM_001199209.1:c.1007G>T, NM_001369696.1:c.1007G>A, NM_001369696.1:c.1007G>T, XM_011528014.4:c.560G>A, XM_011528014.4:c.560G>T, XM_011528014.3:c.560G>A, XM_011528014.3:c.560G>T, XM_011528014.2:c.560G>A, XM_011528014.2:c.560G>T, XM_011528014.1:c.560G>A, XM_011528014.1:c.560G>T, XM_017026815.2:c.1007G>A, XM_017026815.2:c.1007G>T, XM_017026815.1:c.1007G>A, XM_017026815.1:c.1007G>T, XM_047438840.1:c.560G>A, XM_047438840.1:c.560G>T, NP_000887.2:p.Gly336Asp, NP_000887.2:p.Gly336Val, NP_001186137.1:p.Gly336Asp, NP_001186137.1:p.Gly336Val, NP_001186138.1:p.Gly336Asp, NP_001186138.1:p.Gly336Val, NP_001356625.1:p.Gly336Asp, NP_001356625.1:p.Gly336Val, XP_011526316.1:p.Gly187Asp, XP_011526316.1:p.Gly187Val, XP_016882304.1:p.Gly336Asp, XP_016882304.1:p.Gly336Val, XP_047294796.1:p.Gly187Asp, XP_047294796.1:p.Gly187Val

Select item 14699981708.

rs1469998170 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:15650153 (GRCh38)
19:15760963 (GRCh37)
Canonical SPDI:: NC_000019.10:15650152:G:T
Gene:: CYP4F3 (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.15650153G>T, NC_000019.9:g.15760963G>T, NG_007964.1:g.14257G>T, NM_000896.3:c.888G>T, NM_000896.2:c.888G>T, NM_001199208.2:c.888G>T, NM_001199208.1:c.888G>T, NM_001199209.2:c.888G>T, NM_001199209.1:c.888G>T, NM_001369696.1:c.888G>T, XM_011528014.4:c.441G>T, XM_011528014.3:c.441G>T, XM_011528014.2:c.441G>T, XM_011528014.1:c.441G>T, XM_017026815.2:c.888G>T, XM_017026815.1:c.888G>T, XM_047438840.1:c.441G>T, NP_000887.2:p.Leu296Phe, NP_001186137.1:p.Leu296Phe, NP_001186138.1:p.Leu296Phe, NP_001356625.1:p.Leu296Phe, XP_011526316.1:p.Leu147Phe, XP_016882304.1:p.Leu296Phe, XP_047294796.1:p.Leu147Phe

Select item 14695224459.

rs1469522445 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:15659289 (GRCh38)
19:15770099 (GRCh37)
Canonical SPDI:: NC_000019.10:15659288:C:A,NC_000019.10:15659288:C:T
Gene:: CYP4F3 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.15659289C>A, NC_000019.10:g.15659289C>T, NC_000019.9:g.15770099C>A, NC_000019.9:g.15770099C>T, NG_007964.1:g.23393C>A, NG_007964.1:g.23393C>T, NM_000896.3:c.1467C>A, NM_000896.3:c.1467C>T, NM_000896.2:c.1467C>A, NM_000896.2:c.1467C>T, NM_001199208.2:c.1467C>A, NM_001199208.2:c.1467C>T, NM_001199208.1:c.1467C>A, NM_001199208.1:c.1467C>T, NM_001199209.2:c.1467C>A, NM_001199209.2:c.1467C>T, NM_001199209.1:c.1467C>A, NM_001199209.1:c.1467C>T, NM_001369696.1:c.1467C>A, NM_001369696.1:c.1467C>T, XM_011528014.4:c.1020C>A, XM_011528014.4:c.1020C>T, XM_011528014.3:c.1020C>A, XM_011528014.3:c.1020C>T, XM_011528014.2:c.1020C>A, XM_011528014.2:c.1020C>T, XM_011528014.1:c.1020C>A, XM_011528014.1:c.1020C>T, XM_047438840.1:c.1020C>A, XM_047438840.1:c.1020C>T, NP_000887.2:p.Phe489Leu, NP_001186137.1:p.Phe489Leu, NP_001186138.1:p.Phe489Leu, NP_001356625.1:p.Phe489Leu, XP_011526316.1:p.Phe340Leu, XP_047294796.1:p.Phe340Leu

Select item 146833211010.

rs1468332110 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:15658804 (GRCh38)
19:15769614 (GRCh37)
Canonical SPDI:: NC_000019.10:15658803:G:A
Gene:: CYP4F3 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.15658804G>A, NC_000019.9:g.15769614G>A, NG_007964.1:g.22908G>A, NM_000896.3:c.1392G>A, NM_000896.2:c.1392G>A, NM_001199208.2:c.1392G>A, NM_001199208.1:c.1392G>A, NM_001199209.2:c.1392G>A, NM_001199209.1:c.1392G>A, NM_001369696.1:c.1392G>A, XM_011528014.4:c.945G>A, XM_011528014.3:c.945G>A, XM_011528014.2:c.945G>A, XM_011528014.1:c.945G>A, XM_047438840.1:c.945G>A

Select item 146607697311.

rs1466076973 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:15658502 (GRCh38)
19:15769312 (GRCh37)
Canonical SPDI:: NC_000019.10:15658501:C:A
Gene:: CYP4F3 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000019.10:g.15658502C>A, NC_000019.9:g.15769312C>A, NG_007964.1:g.22606C>A, NM_000896.3:c.1261C>A, NM_000896.2:c.1261C>A, NM_001199208.2:c.1261C>A, NM_001199208.1:c.1261C>A, NM_001199209.2:c.1261C>A, NM_001199209.1:c.1261C>A, NM_001369696.1:c.1261C>A, XM_011528014.4:c.814C>A, XM_011528014.3:c.814C>A, XM_011528014.2:c.814C>A, XM_011528014.1:c.814C>A, XM_047438840.1:c.814C>A, NP_000887.2:p.Leu421Ile, NP_001186137.1:p.Leu421Ile, NP_001186138.1:p.Leu421Ile, NP_001356625.1:p.Leu421Ile, XP_011526316.1:p.Leu272Ile, XP_047294796.1:p.Leu272Ile

Select item 146594891012.

rs1465948910 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 19:15650053 (GRCh38)
19:15760863 (GRCh37)
Canonical SPDI:: NC_000019.10:15650052:T:C,NC_000019.10:15650052:T:G
Gene:: CYP4F3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.15650053T>C, NC_000019.10:g.15650053T>G, NC_000019.9:g.15760863T>C, NC_000019.9:g.15760863T>G, NG_007964.1:g.14157T>C, NG_007964.1:g.14157T>G, NM_000896.3:c.788T>C, NM_000896.3:c.788T>G, NM_000896.2:c.788T>C, NM_000896.2:c.788T>G, NM_001199208.2:c.788T>C, NM_001199208.2:c.788T>G, NM_001199208.1:c.788T>C, NM_001199208.1:c.788T>G, NM_001199209.2:c.788T>C, NM_001199209.2:c.788T>G, NM_001199209.1:c.788T>C, NM_001199209.1:c.788T>G, NM_001369696.1:c.788T>C, NM_001369696.1:c.788T>G, XM_011528014.4:c.341T>C, XM_011528014.4:c.341T>G, XM_011528014.3:c.341T>C, XM_011528014.3:c.341T>G, XM_011528014.2:c.341T>C, XM_011528014.2:c.341T>G, XM_011528014.1:c.341T>C, XM_011528014.1:c.341T>G, XM_017026815.2:c.788T>C, XM_017026815.2:c.788T>G, XM_017026815.1:c.788T>C, XM_017026815.1:c.788T>G, XM_047438840.1:c.341T>C, XM_047438840.1:c.341T>G, NP_000887.2:p.Val263Ala, NP_000887.2:p.Val263Gly, NP_001186137.1:p.Val263Ala, NP_001186137.1:p.Val263Gly, NP_001186138.1:p.Val263Ala, NP_001186138.1:p.Val263Gly, NP_001356625.1:p.Val263Ala, NP_001356625.1:p.Val263Gly, XP_011526316.1:p.Val114Ala, XP_011526316.1:p.Val114Gly, XP_016882304.1:p.Val263Ala, XP_016882304.1:p.Val263Gly, XP_047294796.1:p.Val114Ala, XP_047294796.1:p.Val114Gly

Select item 146388277713.

rs1463882777 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 19:15658330 (GRCh38)
19:15769140 (GRCh37)
Canonical SPDI:: NC_000019.10:15658329:A:C,NC_000019.10:15658329:A:G
Gene:: CYP4F3 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.15658330A>C, NC_000019.10:g.15658330A>G, NC_000019.9:g.15769140A>C, NC_000019.9:g.15769140A>G, NG_007964.1:g.22434A>C, NG_007964.1:g.22434A>G, NM_000896.3:c.1182A>C, NM_000896.3:c.1182A>G, NM_000896.2:c.1182A>C, NM_000896.2:c.1182A>G, NM_001199208.2:c.1182A>C, NM_001199208.2:c.1182A>G, NM_001199208.1:c.1182A>C, NM_001199208.1:c.1182A>G, NM_001199209.2:c.1182A>C, NM_001199209.2:c.1182A>G, NM_001199209.1:c.1182A>C, NM_001199209.1:c.1182A>G, NM_001369696.1:c.1182A>C, NM_001369696.1:c.1182A>G, XM_011528014.4:c.735A>C, XM_011528014.4:c.735A>G, XM_011528014.3:c.735A>C, XM_011528014.3:c.735A>G, XM_011528014.2:c.735A>C, XM_011528014.2:c.735A>G, XM_011528014.1:c.735A>C, XM_011528014.1:c.735A>G, XM_047438840.1:c.735A>C, XM_047438840.1:c.735A>G

Select item 146149938214.

rs1461499382 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:15652938 (GRCh38)
19:15763748 (GRCh37)
Canonical SPDI:: NC_000019.10:15652937:T:C
Gene:: CYP4F3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.15652938T>C, NC_000019.9:g.15763748T>C, NG_007964.1:g.17042T>C, NM_000896.3:c.1101T>C, NM_000896.2:c.1101T>C, NM_001199208.2:c.1101T>C, NM_001199208.1:c.1101T>C, NM_001199209.2:c.1101T>C, NM_001199209.1:c.1101T>C, NM_001369696.1:c.1101T>C, XM_011528014.4:c.654T>C, XM_011528014.3:c.654T>C, XM_011528014.2:c.654T>C, XM_011528014.1:c.654T>C, XM_017026815.2:c.1101T>C, XM_017026815.1:c.1101T>C, XM_047438840.1:c.654T>C

Select item 146018869415.

rs1460188694 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:15649245 (GRCh38)
19:15760055 (GRCh37)
Canonical SPDI:: NC_000019.10:15649244:A:G
Gene:: CYP4F3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000019.10:g.15649245A>G, NC_000019.9:g.15760055A>G, NG_007964.1:g.13349A>G, NM_000896.3:c.611A>G, NM_000896.2:c.611A>G, NM_001199208.2:c.611A>G, NM_001199208.1:c.611A>G, NM_001199209.2:c.611A>G, NM_001199209.1:c.611A>G, NM_001369696.1:c.611A>G, XM_011528014.4:c.164A>G, XM_011528014.3:c.164A>G, XM_011528014.2:c.164A>G, XM_011528014.1:c.164A>G, XM_017026815.2:c.611A>G, XM_017026815.1:c.611A>G, XM_047438840.1:c.164A>G, NP_000887.2:p.Gln204Arg, NP_001186137.1:p.Gln204Arg, NP_001186138.1:p.Gln204Arg, NP_001356625.1:p.Gln204Arg, XP_011526316.1:p.Gln55Arg, XP_016882304.1:p.Gln204Arg, XP_047294796.1:p.Gln55Arg

Select item 145659822116.

rs1456598221 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:15658358 (GRCh38)
19:15769168 (GRCh37)
Canonical SPDI:: NC_000019.10:15658357:C:A
Gene:: CYP4F3 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.15658358C>A, NC_000019.9:g.15769168C>A, NG_007964.1:g.22462C>A, NM_000896.3:c.1210C>A, NM_000896.2:c.1210C>A, NM_001199208.2:c.1210C>A, NM_001199208.1:c.1210C>A, NM_001199209.2:c.1210C>A, NM_001199209.1:c.1210C>A, NM_001369696.1:c.1210C>A, XM_011528014.4:c.763C>A, XM_011528014.3:c.763C>A, XM_011528014.2:c.763C>A, XM_011528014.1:c.763C>A, XM_047438840.1:c.763C>A, NP_000887.2:p.Gln404Lys, NP_001186137.1:p.Gln404Lys, NP_001186138.1:p.Gln404Lys, NP_001356625.1:p.Gln404Lys, XP_011526316.1:p.Gln255Lys, XP_047294796.1:p.Gln255Lys

Select item 145250205217.

rs1452502052 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:15647086 (GRCh38)
19:15757896 (GRCh37)
Canonical SPDI:: NC_000019.10:15647085:C:T
Gene:: CYP4F3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.15647086C>T, NC_000019.9:g.15757896C>T, NG_007964.1:g.11190C>T, NM_000896.3:c.378C>T, NM_000896.2:c.378C>T, NM_001199208.2:c.378C>T, NM_001199208.1:c.378C>T, NM_001199209.2:c.378C>T, NM_001199209.1:c.378C>T, NM_001369696.1:c.378C>T, XM_011528014.4:c.-70C>T, XM_011528014.3:c.-70C>T, XM_011528014.2:c.-70C>T, XM_011528014.1:c.-70C>T, XM_017026815.2:c.378C>T, XM_017026815.1:c.378C>T, XM_047438840.1:c.-161C>T

Select item 145112628118.

rs1451126281 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:15649976 (GRCh38)
19:15760786 (GRCh37)
Canonical SPDI:: NC_000019.10:15649975:G:T
Gene:: CYP4F3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000113/5 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000019.10:g.15649976G>T, NC_000019.9:g.15760786G>T, NG_007964.1:g.14080G>T, NM_000896.3:c.711G>T, NM_000896.2:c.711G>T, NM_001199208.2:c.711G>T, NM_001199208.1:c.711G>T, NM_001199209.2:c.711G>T, NM_001199209.1:c.711G>T, NM_001369696.1:c.711G>T, XM_011528014.4:c.264G>T, XM_011528014.3:c.264G>T, XM_011528014.2:c.264G>T, XM_011528014.1:c.264G>T, XM_017026815.2:c.711G>T, XM_017026815.1:c.711G>T, XM_047438840.1:c.264G>T, NP_000887.2:p.Gln237His, NP_001186137.1:p.Gln237His, NP_001186138.1:p.Gln237His, NP_001356625.1:p.Gln237His, XP_011526316.1:p.Gln88His, XP_016882304.1:p.Gln237His, XP_047294796.1:p.Gln88His

Select item 145045360519.

rs1450453605 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:15650017 (GRCh38)
19:15760827 (GRCh37)
Canonical SPDI:: NC_000019.10:15650016:C:T
Gene:: CYP4F3 (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)
HGVS:: NC_000019.10:g.15650017C>T, NC_000019.9:g.15760827C>T, NG_007964.1:g.14121C>T, NM_000896.3:c.752C>T, NM_000896.2:c.752C>T, NM_001199208.2:c.752C>T, NM_001199208.1:c.752C>T, NM_001199209.2:c.752C>T, NM_001199209.1:c.752C>T, NM_001369696.1:c.752C>T, XM_011528014.4:c.305C>T, XM_011528014.3:c.305C>T, XM_011528014.2:c.305C>T, XM_011528014.1:c.305C>T, XM_017026815.2:c.752C>T, XM_017026815.1:c.752C>T, XM_047438840.1:c.305C>T, NP_000887.2:p.Pro251Leu, NP_001186137.1:p.Pro251Leu, NP_001186138.1:p.Pro251Leu, NP_001356625.1:p.Pro251Leu, XP_011526316.1:p.Pro102Leu, XP_016882304.1:p.Pro251Leu, XP_047294796.1:p.Pro102Leu

Select item 144908979020.

rs1449089790 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:15641435 (GRCh38)
19:15752245 (GRCh37)
Canonical SPDI:: NC_000019.10:15641434:C:T
Gene:: CYP4F3 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.15641435C>T, NC_000019.9:g.15752245C>T, NG_007964.1:g.5539C>T, NM_000896.3:c.20C>T, NM_000896.2:c.20C>T, NM_001199208.2:c.20C>T, NM_001199208.1:c.20C>T, NM_001199209.2:c.20C>T, NM_001199209.1:c.20C>T, NM_001369696.1:c.20C>T, XM_017026815.2:c.20C>T, XM_017026815.1:c.20C>T, XM_047438840.1:c.-374C>T, NP_000887.2:p.Ser7Phe, NP_001186137.1:p.Ser7Phe, NP_001186138.1:p.Ser7Phe, NP_001356625.1:p.Ser7Phe, XP_016882304.1:p.Ser7Phe

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