SNP Links for Protein (Select 306035177) - SNP

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Links from Protein

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Select item 14871788091.

rs1487178809 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:58001552 (GRCh38)
16:58035456 (GRCh37)
Canonical SPDI:: NC_000016.10:58001551:G:A
Gene:: ZNF319 (Varview), USB1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.58001552G>A, NC_000016.9:g.58035456G>A, NG_027698.1:g.5180G>A, NM_024598.4:c.69G>A, NM_024598.3:c.69G>A, NM_001204911.2:c.69G>A, NM_001204911.1:c.69G>A, NM_001195302.2:c.69G>A, NM_001195302.1:c.69G>A, NM_001330569.2:c.69G>A, NM_001330569.1:c.69G>A, NG_056839.1:g.428G>A

Select item 14826849532.

rs1482684953 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:58020174 (GRCh38)
16:58054078 (GRCh37)
Canonical SPDI:: NC_000016.10:58020173:C:T
Gene:: USB1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000283/5 (TOMMO)
HGVS:: NC_000016.10:g.58020174C>T, NC_000016.9:g.58054078C>T, NG_027698.1:g.23802C>T, NM_024598.4:c.727C>T, NM_024598.3:c.727C>T, NM_001195302.2:c.673C>T, NM_001195302.1:c.673C>T, NM_001330568.2:c.574C>T, NM_001330568.1:c.574C>T

Select item 14815506493.

rs1481550649 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:58010058 (GRCh38)
16:58043962 (GRCh37)
Canonical SPDI:: NC_000016.10:58010057:A:G
Gene:: USB1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.58010058A>G, NC_000016.9:g.58043962A>G, NG_027698.1:g.13686A>G, NM_024598.4:c.395A>G, NM_024598.3:c.395A>G, NM_001204911.2:c.395A>G, NM_001204911.1:c.395A>G, NM_001195302.2:c.395A>G, NM_001195302.1:c.395A>G, NM_001330568.2:c.242A>G, NM_001330568.1:c.242A>G, NM_001330569.2:c.395A>G, NM_001330569.1:c.395A>G, NP_078874.2:p.His132Arg, NP_001191840.1:p.His132Arg, NP_001182231.1:p.His132Arg, NP_001317497.1:p.His81Arg, NP_001317498.1:p.His132Arg

Select item 14812279494.

rs1481227949 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:58010028 (GRCh38)
16:58043932 (GRCh37)
Canonical SPDI:: NC_000016.10:58010027:G:C
Gene:: USB1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.58010028G>C, NC_000016.9:g.58043932G>C, NG_027698.1:g.13656G>C, NM_024598.4:c.365G>C, NM_024598.3:c.365G>C, NM_001204911.2:c.365G>C, NM_001204911.1:c.365G>C, NM_001195302.2:c.365G>C, NM_001195302.1:c.365G>C, NM_001330568.2:c.212G>C, NM_001330568.1:c.212G>C, NM_001330569.2:c.365G>C, NM_001330569.1:c.365G>C, NP_078874.2:p.Ser122Thr, NP_001191840.1:p.Ser122Thr, NP_001182231.1:p.Ser122Thr, NP_001317497.1:p.Ser71Thr, NP_001317498.1:p.Ser122Thr

Select item 14810284205.

rs1481028420 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:58019037 (GRCh38)
16:58052941 (GRCh37)
Canonical SPDI:: NC_000016.10:58019036:G:A,NC_000016.10:58019036:G:C
Gene:: USB1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.58019037G>A, NC_000016.10:g.58019037G>C, NC_000016.9:g.58052941G>A, NC_000016.9:g.58052941G>C, NG_027698.1:g.22665G>A, NG_027698.1:g.22665G>C, NM_024598.4:c.675G>A, NM_024598.4:c.675G>C, NM_024598.3:c.675G>A, NM_024598.3:c.675G>C, NM_001195302.2:c.621G>A, NM_001195302.2:c.621G>C, NM_001195302.1:c.621G>A, NM_001195302.1:c.621G>C, NM_001330568.2:c.522G>A, NM_001330568.2:c.522G>C, NM_001330568.1:c.522G>A, NM_001330568.1:c.522G>C, NP_078874.2:p.Gln225His, NP_001182231.1:p.Gln207His, NP_001317497.1:p.Gln174His

Select item 14805727376.

rs1480572737 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:58020188 (GRCh38)
16:58054092 (GRCh37)
Canonical SPDI:: NC_000016.10:58020187:C:T
Gene:: USB1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.58020188C>T, NC_000016.9:g.58054092C>T, NG_027698.1:g.23816C>T, NM_024598.4:c.741C>T, NM_024598.3:c.741C>T, NM_001195302.2:c.687C>T, NM_001195302.1:c.687C>T, NM_001330568.2:c.588C>T, NM_001330568.1:c.588C>T

Select item 14802443967.

rs1480244396 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:58010015 (GRCh38)
16:58043919 (GRCh37)
Canonical SPDI:: NC_000016.10:58010014:G:A,NC_000016.10:58010014:G:C
Gene:: USB1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.58010015G>A, NC_000016.10:g.58010015G>C, NC_000016.9:g.58043919G>A, NC_000016.9:g.58043919G>C, NG_027698.1:g.13643G>A, NG_027698.1:g.13643G>C, NM_024598.4:c.352G>A, NM_024598.4:c.352G>C, NM_024598.3:c.352G>A, NM_024598.3:c.352G>C, NM_001204911.2:c.352G>A, NM_001204911.2:c.352G>C, NM_001204911.1:c.352G>A, NM_001204911.1:c.352G>C, NM_001195302.2:c.352G>A, NM_001195302.2:c.352G>C, NM_001195302.1:c.352G>A, NM_001195302.1:c.352G>C, NM_001330568.2:c.199G>A, NM_001330568.2:c.199G>C, NM_001330568.1:c.199G>A, NM_001330568.1:c.199G>C, NM_001330569.2:c.352G>A, NM_001330569.2:c.352G>C, NM_001330569.1:c.352G>A, NM_001330569.1:c.352G>C, NP_078874.2:p.Val118Met, NP_078874.2:p.Val118Leu, NP_001191840.1:p.Val118Met, NP_001191840.1:p.Val118Leu, NP_001182231.1:p.Val118Met, NP_001182231.1:p.Val118Leu, NP_001317497.1:p.Val67Met, NP_001317497.1:p.Val67Leu, NP_001317498.1:p.Val118Met, NP_001317498.1:p.Val118Leu

Select item 14779475788.

rs1477947578 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:58010035 (GRCh38)
16:58043939 (GRCh37)
Canonical SPDI:: NC_000016.10:58010034:C:T
Gene:: USB1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.58010035C>T, NC_000016.9:g.58043939C>T, NG_027698.1:g.13663C>T, NM_024598.4:c.372C>T, NM_024598.3:c.372C>T, NM_001204911.2:c.372C>T, NM_001204911.1:c.372C>T, NM_001195302.2:c.372C>T, NM_001195302.1:c.372C>T, NM_001330568.2:c.219C>T, NM_001330568.1:c.219C>T, NM_001330569.2:c.372C>T, NM_001330569.1:c.372C>T

Select item 14726704689.

rs1472670468 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:58009949 (GRCh38)
16:58043853 (GRCh37)
Canonical SPDI:: NC_000016.10:58009948:C:T
Gene:: USB1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.58009949C>T, NC_000016.9:g.58043853C>T, NG_027698.1:g.13577C>T, NM_024598.4:c.286C>T, NM_024598.3:c.286C>T, NM_001204911.2:c.286C>T, NM_001204911.1:c.286C>T, NM_001195302.2:c.286C>T, NM_001195302.1:c.286C>T, NM_001330568.2:c.133C>T, NM_001330568.1:c.133C>T, NM_001330569.2:c.286C>T, NM_001330569.1:c.286C>T

Select item 147234242310.

rs1472342423 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:58002490 (GRCh38)
16:58036394 (GRCh37)
Canonical SPDI:: NC_000016.10:58002489:C:G
Gene:: ZNF319 (Varview), USB1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000056/2 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.58002490C>G, NC_000016.9:g.58036394C>G, NG_027698.1:g.6118C>G, NM_024598.4:c.110C>G, NM_024598.3:c.110C>G, NM_001204911.2:c.110C>G, NM_001204911.1:c.110C>G, NM_001195302.2:c.110C>G, NM_001195302.1:c.110C>G, NM_001330568.2:c.-44C>G, NM_001330568.1:c.-44C>G, NM_001330569.2:c.110C>G, NM_001330569.1:c.110C>G, NP_078874.2:p.Pro37Arg, NP_001191840.1:p.Pro37Arg, NP_001182231.1:p.Pro37Arg, NP_001317498.1:p.Pro37Arg

Select item 147073527211.

rs1470735272 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:58009957 (GRCh38)
16:58043861 (GRCh37)
Canonical SPDI:: NC_000016.10:58009956:G:A,NC_000016.10:58009956:G:T
Gene:: USB1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.58009957G>A, NC_000016.10:g.58009957G>T, NC_000016.9:g.58043861G>A, NC_000016.9:g.58043861G>T, NG_027698.1:g.13585G>A, NG_027698.1:g.13585G>T, NM_024598.4:c.294G>A, NM_024598.4:c.294G>T, NM_024598.3:c.294G>A, NM_024598.3:c.294G>T, NM_001204911.2:c.294G>A, NM_001204911.2:c.294G>T, NM_001204911.1:c.294G>A, NM_001204911.1:c.294G>T, NM_001195302.2:c.294G>A, NM_001195302.2:c.294G>T, NM_001195302.1:c.294G>A, NM_001195302.1:c.294G>T, NM_001330568.2:c.141G>A, NM_001330568.2:c.141G>T, NM_001330568.1:c.141G>A, NM_001330568.1:c.141G>T, NM_001330569.2:c.294G>A, NM_001330569.2:c.294G>T, NM_001330569.1:c.294G>A, NM_001330569.1:c.294G>T

Select item 147040736112.

rs1470407361 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:58002496 (GRCh38)
16:58036400 (GRCh37)
Canonical SPDI:: NC_000016.10:58002495:C:A
Gene:: ZNF319 (Varview), USB1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.58002496C>A, NC_000016.9:g.58036400C>A, NG_027698.1:g.6124C>A, NM_024598.4:c.116C>A, NM_024598.3:c.116C>A, NM_001204911.2:c.116C>A, NM_001204911.1:c.116C>A, NM_001195302.2:c.116C>A, NM_001195302.1:c.116C>A, NM_001330568.2:c.-38C>A, NM_001330568.1:c.-38C>A, NM_001330569.2:c.116C>A, NM_001330569.1:c.116C>A, NP_078874.2:p.Pro39His, NP_001191840.1:p.Pro39His, NP_001182231.1:p.Pro39His, NP_001317498.1:p.Pro39His

Select item 146898485313.

rs1468984853 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:58017421 (GRCh38)
16:58051325 (GRCh37)
Canonical SPDI:: NC_000016.10:58017420:C:G
Gene:: USB1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.58017421C>G, NC_000016.9:g.58051325C>G, NG_027698.1:g.21049C>G, NM_024598.4:c.591C>G, NM_024598.3:c.591C>G, NM_001195302.2:c.537C>G, NM_001195302.1:c.537C>G, NM_001330568.2:c.438C>G, NM_001330568.1:c.438C>G, NP_078874.2:p.Asn197Lys, NP_001182231.1:p.Asn179Lys, NP_001317497.1:p.Asn146Lys

Select item 145971468014.

rs1459714680 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:58019035 (GRCh38)
16:58052939 (GRCh37)
Canonical SPDI:: NC_000016.10:58019034:C:T
Gene:: USB1 (Varview)
Functional Consequence:: stop_gained,genic_downstream_transcript_variant,coding_sequence_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000049/2 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.58019035C>T, NC_000016.9:g.58052939C>T, NG_027698.1:g.22663C>T, NM_024598.4:c.673C>T, NM_024598.3:c.673C>T, NM_001195302.2:c.619C>T, NM_001195302.1:c.619C>T, NM_001330568.2:c.520C>T, NM_001330568.1:c.520C>T, NP_078874.2:p.Gln225Ter, NP_001182231.1:p.Gln207Ter, NP_001317497.1:p.Gln174Ter

Select item 145651568815.

rs1456515688 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:58001577 (GRCh38)
16:58035481 (GRCh37)
Canonical SPDI:: NC_000016.10:58001576:C:T
Gene:: ZNF319 (Varview), USB1 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,intron_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.58001577C>T, NC_000016.9:g.58035481C>T, NG_027698.1:g.5205C>T, NM_024598.4:c.94C>T, NM_024598.3:c.94C>T, NM_001204911.2:c.94C>T, NM_001204911.1:c.94C>T, NM_001195302.2:c.94C>T, NM_001195302.1:c.94C>T, NM_001330569.2:c.94C>T, NM_001330569.1:c.94C>T, NG_056839.1:g.453C>T, NP_078874.2:p.Arg32Cys, NP_001191840.1:p.Arg32Cys, NP_001182231.1:p.Arg32Cys, NP_001317498.1:p.Arg32Cys

Select item 145466688216.

rs1454666882 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:58020244 (GRCh38)
16:58054148 (GRCh37)
Canonical SPDI:: NC_000016.10:58020243:G:C
Gene:: USB1 (Varview)
Functional Consequence:: terminator_codon_variant,genic_downstream_transcript_variant,stop_lost
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.58020244G>C, NC_000016.9:g.58054148G>C, NG_027698.1:g.23872G>C, NM_024598.4:c.797G>C, NM_024598.3:c.797G>C, NM_001195302.2:c.743G>C, NM_001195302.1:c.743G>C, NM_001330568.2:c.644G>C, NM_001330568.1:c.644G>C, NP_078874.2:p.Ter266Ser, NP_001182231.1:p.Ter248Ser, NP_001317497.1:p.Ter215Ser

Select item 144977293217.

rs1449772932 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:58001520 (GRCh38)
16:58035424 (GRCh37)
Canonical SPDI:: NC_000016.10:58001519:G:C
Gene:: ZNF319 (Varview), USB1 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,intron_variant,upstream_transcript_variant,missense_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_000016.10:g.58001520G>C, NC_000016.9:g.58035424G>C, NG_027698.1:g.5148G>C, NM_024598.4:c.37G>C, NM_024598.3:c.37G>C, NM_001204911.2:c.37G>C, NM_001204911.1:c.37G>C, NM_001195302.2:c.37G>C, NM_001195302.1:c.37G>C, NM_001330569.2:c.37G>C, NM_001330569.1:c.37G>C, NG_056839.1:g.396G>C, NP_078874.2:p.Gly13Arg, NP_001191840.1:p.Gly13Arg, NP_001182231.1:p.Gly13Arg, NP_001317498.1:p.Gly13Arg

Select item 144948030418.

rs1449480304 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:58010100 (GRCh38)
16:58044004 (GRCh37)
Canonical SPDI:: NC_000016.10:58010099:C:A
Gene:: USB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.58010100C>A, NC_000016.9:g.58044004C>A, NG_027698.1:g.13728C>A, NM_024598.4:c.437C>A, NM_024598.3:c.437C>A, NM_001204911.2:c.437C>A, NM_001204911.1:c.437C>A, NM_001195302.2:c.437C>A, NM_001195302.1:c.437C>A, NM_001330568.2:c.284C>A, NM_001330568.1:c.284C>A, NM_001330569.2:c.437C>A, NM_001330569.1:c.437C>A, NP_078874.2:p.Thr146Asn, NP_001191840.1:p.Thr146Asn, NP_001182231.1:p.Thr146Asn, NP_001317497.1:p.Thr95Asn, NP_001317498.1:p.Thr146Asn

Select item 144604234619.

rs1446042346 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:58001559 (GRCh38)
16:58035463 (GRCh37)
Canonical SPDI:: NC_000016.10:58001558:C:T
Gene:: ZNF319 (Varview), USB1 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,intron_variant,upstream_transcript_variant,missense_variant
HGVS:: NC_000016.10:g.58001559C>T, NC_000016.9:g.58035463C>T, NG_027698.1:g.5187C>T, NM_024598.4:c.76C>T, NM_024598.3:c.76C>T, NM_001204911.2:c.76C>T, NM_001204911.1:c.76C>T, NM_001195302.2:c.76C>T, NM_001195302.1:c.76C>T, NM_001330569.2:c.76C>T, NM_001330569.1:c.76C>T, NG_056839.1:g.435C>T, NP_078874.2:p.Pro26Ser, NP_001191840.1:p.Pro26Ser, NP_001182231.1:p.Pro26Ser, NP_001317498.1:p.Pro26Ser

Select item 144174986520.

rs1441749865 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:58017396 (GRCh38)
16:58051300 (GRCh37)
Canonical SPDI:: NC_000016.10:58017395:T:C
Gene:: USB1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000035/1 (TOMMO)
HGVS:: NC_000016.10:g.58017396T>C, NC_000016.9:g.58051300T>C, NG_027698.1:g.21024T>C, NM_024598.4:c.566T>C, NM_024598.3:c.566T>C, NM_001195302.2:c.512T>C, NM_001195302.1:c.512T>C, NM_001330568.2:c.413T>C, NM_001330568.1:c.413T>C, NP_078874.2:p.Val189Ala, NP_001182231.1:p.Val171Ala, NP_001317497.1:p.Val138Ala

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