SNP Links for Protein (Select 117168248) - SNP

Links from Protein

Items: 1 to 20 of 325

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Select item 14864776981.

rs1486477698 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 15:65558692 (GRCh38)
15:65851030 (GRCh37)
Canonical SPDI:: NC_000015.10:65558691:C:A,NC_000015.10:65558691:C:T
Gene:: HACD3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000015.10:g.65558692C>A, NC_000015.10:g.65558692C>T, NC_000015.9:g.65851030C>A, NC_000015.9:g.65851030C>T, NM_016395.4:c.382C>A, NM_016395.4:c.382C>T, NM_016395.3:c.382C>A, NM_016395.3:c.382C>T, NM_016395.2:c.382C>A, NM_016395.2:c.382C>T, XM_011521664.3:c.31C>A, XM_011521664.3:c.31C>T, NM_001411136.1:c.31C>A, NM_001411136.1:c.31C>T, NP_057479.2:p.Leu128Ile, XP_011519966.1:p.Leu11Ile

Select item 14863764892.

rs1486376489 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:65571571 (GRCh38)
15:65863909 (GRCh37)
Canonical SPDI:: NC_000015.10:65571570:G:T
Gene:: HACD3 (Varview), LOC124903602 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.65571571G>T, NC_000015.9:g.65863909G>T, NM_016395.4:c.797G>T, NM_016395.3:c.797G>T, NM_016395.2:c.797G>T, XM_011521664.3:c.446G>T, NM_001411136.1:c.446G>T, NP_057479.2:p.Cys266Phe, XP_011519966.1:p.Cys149Phe

Select item 14853927073.

rs1485392707 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:65564259 (GRCh38)
15:65856597 (GRCh37)
Canonical SPDI:: NC_000015.10:65564258:T:G
Gene:: HACD3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.65564259T>G, NC_000015.9:g.65856597T>G, NM_016395.4:c.577T>G, NM_016395.3:c.577T>G, NM_016395.2:c.577T>G, XM_011521664.3:c.226T>G, NM_001411136.1:c.226T>G, NP_057479.2:p.Phe193Val, XP_011519966.1:p.Phe76Val

Select item 14840393594.

rs1484039359 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:65556812 (GRCh38)
15:65849150 (GRCh37)
Canonical SPDI:: NC_000015.10:65556811:T:C
Gene:: HACD3 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_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)
C=0.000212/4 (TOMMO)
HGVS:: NC_000015.10:g.65556812T>C, NC_000015.9:g.65849150T>C, NM_016395.4:c.278T>C, NM_016395.3:c.278T>C, NM_016395.2:c.278T>C, XM_011521664.3:c.-74T>C, NM_001411136.1:c.-74T>C, NP_057479.2:p.Leu93Pro

Select item 14839920345.

rs1483992034 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:65572247 (GRCh38)
15:65864585 (GRCh37)
Canonical SPDI:: NC_000015.10:65572246:T:C
Gene:: HACD3 (Varview), LOC124903602 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000015.10:g.65572247T>C, NC_000015.9:g.65864585T>C, NM_016395.4:c.893T>C, NM_016395.3:c.893T>C, NM_016395.2:c.893T>C, XM_011521664.3:c.542T>C, NM_001411136.1:c.542T>C, NP_057479.2:p.Ile298Thr, XP_011519966.1:p.Ile181Thr

Select item 14798771226.

rs1479877122 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:65530675 (GRCh38)
15:65823013 (GRCh37)
Canonical SPDI:: NC_000015.10:65530674:G:A,NC_000015.10:65530674:G:C
Gene:: HACD3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.65530675G>A, NC_000015.10:g.65530675G>C, NC_000015.9:g.65823013G>A, NC_000015.9:g.65823013G>C, NM_016395.4:c.44G>A, NM_016395.4:c.44G>C, NM_016395.3:c.44G>A, NM_016395.3:c.44G>C, NM_016395.2:c.44G>A, NM_016395.2:c.44G>C, NP_057479.2:p.Arg15Gln, NP_057479.2:p.Arg15Pro

Select item 14774659927.

rs1477465992 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:65570130 (GRCh38)
15:65862468 (GRCh37)
Canonical SPDI:: NC_000015.10:65570129:A:G
Gene:: HACD3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.65570130A>G, NC_000015.9:g.65862468A>G, NM_016395.4:c.700A>G, NM_016395.3:c.700A>G, NM_016395.2:c.700A>G, XM_011521664.3:c.349A>G, NM_001411136.1:c.349A>G, NP_057479.2:p.Thr234Ala, XP_011519966.1:p.Thr117Ala

Select item 14757910008.

rs1475791000 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 15:65572355 (GRCh38)
15:65864693 (GRCh37)
Canonical SPDI:: NC_000015.10:65572354:T:A
Gene:: HACD3 (Varview), LOC124903602 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.65572355T>A, NC_000015.9:g.65864693T>A, NM_016395.4:c.1001T>A, NM_016395.3:c.1001T>A, NM_016395.2:c.1001T>A, XM_011521664.3:c.650T>A, NM_001411136.1:c.650T>A, NP_057479.2:p.Met334Lys, XP_011519966.1:p.Met217Lys

Select item 14750663029.

rs1475066302 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 15:65571642 (GRCh38)
15:65863980 (GRCh37)
Canonical SPDI:: NC_000015.10:65571641:T:A,NC_000015.10:65571641:T:C,NC_000015.10:65571641:T:G
Gene:: HACD3 (Varview), LOC124903602 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000015.10:g.65571642T>A, NC_000015.10:g.65571642T>C, NC_000015.10:g.65571642T>G, NC_000015.9:g.65863980T>A, NC_000015.9:g.65863980T>C, NC_000015.9:g.65863980T>G, NM_016395.4:c.868T>A, NM_016395.4:c.868T>C, NM_016395.4:c.868T>G, NM_016395.3:c.868T>A, NM_016395.3:c.868T>C, NM_016395.3:c.868T>G, NM_016395.2:c.868T>A, NM_016395.2:c.868T>C, NM_016395.2:c.868T>G, XM_011521664.3:c.517T>A, XM_011521664.3:c.517T>C, XM_011521664.3:c.517T>G, NM_001411136.1:c.517T>A, NM_001411136.1:c.517T>C, NM_001411136.1:c.517T>G, NP_057479.2:p.Cys290Ser, NP_057479.2:p.Cys290Arg, NP_057479.2:p.Cys290Gly, XP_011519966.1:p.Cys173Ser, XP_011519966.1:p.Cys173Arg, XP_011519966.1:p.Cys173Gly

Select item 147360367710.

rs1473603677 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 15:65530697 (GRCh38)
15:65823035 (GRCh37)
Canonical SPDI:: NC_000015.10:65530696:C:A,NC_000015.10:65530696:C:T
Gene:: HACD3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
HGVS:: NC_000015.10:g.65530697C>A, NC_000015.10:g.65530697C>T, NC_000015.9:g.65823035C>A, NC_000015.9:g.65823035C>T, NM_016395.4:c.66C>A, NM_016395.4:c.66C>T, NM_016395.3:c.66C>A, NM_016395.3:c.66C>T, NM_016395.2:c.66C>A, NM_016395.2:c.66C>T

Select item 146791413211.

rs1467914132 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 15:65554897 (GRCh38)
15:65847235 (GRCh37)
Canonical SPDI:: NC_000015.10:65554896:T:A
Gene:: HACD3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.65554897T>A, NC_000015.9:g.65847235T>A, NM_016395.4:c.141T>A, NM_016395.3:c.141T>A, NM_016395.2:c.141T>A, XM_011521664.3:c.-211T>A, NM_001411136.1:c.-211T>A, NP_057479.2:p.His47Gln

Select item 146570120212.

rs1465701202 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:65530711 (GRCh38)
15:65823049 (GRCh37)
Canonical SPDI:: NC_000015.10:65530710:A:G
Gene:: HACD3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
HGVS:: NC_000015.10:g.65530711A>G, NC_000015.9:g.65823049A>G, NM_016395.4:c.80A>G, NM_016395.3:c.80A>G, NM_016395.2:c.80A>G, NP_057479.2:p.Asp27Gly

Select item 146257650913.

rs1462576509 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:65556821 (GRCh38)
15:65849159 (GRCh37)
Canonical SPDI:: NC_000015.10:65556820:A:G
Gene:: HACD3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000015.10:g.65556821A>G, NC_000015.9:g.65849159A>G, NM_016395.4:c.287A>G, NM_016395.3:c.287A>G, NM_016395.2:c.287A>G, XM_011521664.3:c.-65A>G, NM_001411136.1:c.-65A>G, NP_057479.2:p.Gln96Arg

Select item 146152195214.

rs1461521952 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:65572308 (GRCh38)
15:65864646 (GRCh37)
Canonical SPDI:: NC_000015.10:65572307:G:A
Gene:: HACD3 (Varview), LOC124903602 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.65572308G>A, NC_000015.9:g.65864646G>A, NM_016395.4:c.954G>A, NM_016395.3:c.954G>A, NM_016395.2:c.954G>A, XM_011521664.3:c.603G>A, NM_001411136.1:c.603G>A

Select item 146123070915.

rs1461230709 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:65562819 (GRCh38)
15:65855157 (GRCh37)
Canonical SPDI:: NC_000015.10:65562818:T:G
Gene:: HACD3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.65562819T>G, NC_000015.9:g.65855157T>G, NM_016395.4:c.467T>G, NM_016395.3:c.467T>G, NM_016395.2:c.467T>G, XM_011521664.3:c.116T>G, NM_001411136.1:c.116T>G, NP_057479.2:p.Val156Gly, XP_011519966.1:p.Val39Gly

Select item 145848837916.

rs1458488379 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:65556778 (GRCh38)
15:65849116 (GRCh37)
Canonical SPDI:: NC_000015.10:65556777:G:A
Gene:: HACD3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000015.10:g.65556778G>A, NC_000015.9:g.65849116G>A, NM_016395.4:c.244G>A, NM_016395.3:c.244G>A, NM_016395.2:c.244G>A, XM_011521664.3:c.-108G>A, NM_001411136.1:c.-108G>A, NP_057479.2:p.Val82Ile

Select item 145829261417.

rs1458292614 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:65530671 (GRCh38)
15:65823009 (GRCh37)
Canonical SPDI:: NC_000015.10:65530670:C:T
Gene:: HACD3 (Varview)
Functional Consequence:: stop_gained,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
HGVS:: NC_000015.10:g.65530671C>T, NC_000015.9:g.65823009C>T, NM_016395.4:c.40C>T, NM_016395.3:c.40C>T, NM_016395.2:c.40C>T, NP_057479.2:p.Gln14Ter

Select item 145541893918.

rs1455418939 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 15:65572258 (GRCh38)
15:65864596 (GRCh37)
Canonical SPDI:: NC_000015.10:65572257:CC:C
Gene:: HACD3 (Varview), LOC124903602 (Varview)
Functional Consequence:: 2KB_upstream_variant,frameshift_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.65572259del, NC_000015.9:g.65864597del, NM_016395.4:c.905del, NM_016395.3:c.905del, NM_016395.2:c.905del, XM_011521664.3:c.554del, NM_001411136.1:c.554del, NP_057479.2:p.Pro302fs, XP_011519966.1:p.Pro185fs

Select item 144808619819.

rs1448086198 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:65564322 (GRCh38)
15:65856660 (GRCh37)
Canonical SPDI:: NC_000015.10:65564321:G:T
Gene:: HACD3 (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_000015.10:g.65564322G>T, NC_000015.9:g.65856660G>T, NM_016395.4:c.640G>T, NM_016395.3:c.640G>T, NM_016395.2:c.640G>T, XM_011521664.3:c.289G>T, NM_001411136.1:c.289G>T, NP_057479.2:p.Val214Leu, XP_011519966.1:p.Val97Leu

Select item 144725242620.

rs1447252426 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 15:65556756 (GRCh38)
15:65849094 (GRCh37)
Canonical SPDI:: NC_000015.10:65556755:C:A,NC_000015.10:65556755:C:T
Gene:: HACD3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.00004/1 (TOMMO)
HGVS:: NC_000015.10:g.65556756C>A, NC_000015.10:g.65556756C>T, NC_000015.9:g.65849094C>A, NC_000015.9:g.65849094C>T, NM_016395.4:c.222C>A, NM_016395.4:c.222C>T, NM_016395.3:c.222C>A, NM_016395.3:c.222C>T, NM_016395.2:c.222C>A, NM_016395.2:c.222C>T, XM_011521664.3:c.-130C>A, XM_011521664.3:c.-130C>T, NM_001411136.1:c.-130C>A, NM_001411136.1:c.-130C>T

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