SNP Links for Protein (Select 148727341) - SNP

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Links from Protein

Items: 1 to 20 of 240

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Select item 14795239771.

rs1479523977 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:15895398 (GRCh38)
12:16048332 (GRCh37)
Canonical SPDI:: NC_000012.12:15895397:A:T
Gene:: STRAP (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.15895398A>T, NC_000012.11:g.16048332A>T, NM_007178.4:c.540A>T, NM_007178.3:c.540A>T

Select item 14762942092.

rs1476294209 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:15894106 (GRCh38)
12:16047040 (GRCh37)
Canonical SPDI:: NC_000012.12:15894105:G:A
Gene:: STRAP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.15894106G>A, NC_000012.11:g.16047040G>A, NM_007178.4:c.463G>A, NM_007178.3:c.463G>A, NP_009109.3:p.Asp155Asn

Select item 14753144803.

rs1475314480 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:15883652 (GRCh38)
12:16036586 (GRCh37)
Canonical SPDI:: NC_000012.12:15883651:C:G
Gene:: STRAP (Varview), LOC102724146 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.15883652C>G, NC_000012.11:g.16036586C>G, NM_007178.4:c.224C>G, NM_007178.3:c.224C>G, NP_009109.3:p.Ala75Gly

Select item 14743307104.

rs1474330710 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:15882756 (GRCh38)
12:16035690 (GRCh37)
Canonical SPDI:: NC_000012.12:15882755:G:C
Gene:: STRAP (Varview), LOC102724146 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.15882756G>C, NC_000012.11:g.16035690G>C, NM_007178.4:c.49G>C, NM_007178.3:c.49G>C, NP_009109.3:p.Val17Leu

Select item 14741251245.

rs1474125124 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:15902959 (GRCh38)
12:16055893 (GRCh37)
Canonical SPDI:: NC_000012.12:15902958:C:G
Gene:: STRAP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000012.12:g.15902959C>G, NC_000012.11:g.16055893C>G, NM_007178.4:c.1034C>G, NM_007178.3:c.1034C>G, NP_009109.3:p.Ala345Gly

Select item 14736593606.

rs1473659360 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:15882746 (GRCh38)
12:16035680 (GRCh37)
Canonical SPDI:: NC_000012.12:15882745:C:A
Gene:: STRAP (Varview), LOC102724146 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.15882746C>A, NC_000012.11:g.16035680C>A, NM_007178.4:c.39C>A, NM_007178.3:c.39C>A, NP_009109.3:p.His13Gln

Select item 14727837487.

rs1472783748 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:15889961 (GRCh38)
12:16042895 (GRCh37)
Canonical SPDI:: NC_000012.12:15889960:G:A,NC_000012.12:15889960:G:C
Gene:: STRAP (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.15889961G>A, NC_000012.12:g.15889961G>C, NC_000012.11:g.16042895G>A, NC_000012.11:g.16042895G>C, NM_007178.4:c.282G>A, NM_007178.4:c.282G>C, NM_007178.3:c.282G>A, NM_007178.3:c.282G>C, NP_009109.3:p.Leu94Phe

Select item 14720559188.

rs1472055918 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 12:15897892 (GRCh38)
12:16050826 (GRCh37)
Canonical SPDI:: NC_000012.12:15897891:A:G,NC_000012.12:15897891:A:T
Gene:: STRAP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.15897892A>G, NC_000012.12:g.15897892A>T, NC_000012.11:g.16050826A>G, NC_000012.11:g.16050826A>T, NM_007178.4:c.649A>G, NM_007178.4:c.649A>T, NM_007178.3:c.649A>G, NM_007178.3:c.649A>T, NP_009109.3:p.Ile217Val, NP_009109.3:p.Ile217Phe

Select item 14704080039.

rs1470408003 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 12:15894081 (GRCh38)
12:16047015 (GRCh37)
Canonical SPDI:: NC_000012.12:15894080:AAAAAAA:AAAAAA
Gene:: STRAP (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000012.12:g.15894087del, NC_000012.11:g.16047021del, NM_007178.4:c.444del, NM_007178.3:c.444del, NP_009109.3:p.Ala149fs

Select item 146571702710.

rs1465717027 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:15899910 (GRCh38)
12:16052844 (GRCh37)
Canonical SPDI:: NC_000012.12:15899909:A:G
Gene:: STRAP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.15899910A>G, NC_000012.11:g.16052844A>G, NM_007178.4:c.782A>G, NM_007178.3:c.782A>G, NP_009109.3:p.Tyr261Cys

Select item 146567859911.

rs1465678599 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:15899966 (GRCh38)
12:16052900 (GRCh37)
Canonical SPDI:: NC_000012.12:15899965:T:C
Gene:: STRAP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000012.12:g.15899966T>C, NC_000012.11:g.16052900T>C, NM_007178.4:c.838T>C, NM_007178.3:c.838T>C, NP_009109.3:p.Tyr280His

Select item 146527764212.

rs1465277642 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:15882794 (GRCh38)
12:16035728 (GRCh37)
Canonical SPDI:: NC_000012.12:15882793:G:A
Gene:: STRAP (Varview), LOC102724146 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.15882794G>A, NC_000012.11:g.16035728G>A, NM_007178.4:c.87G>A, NM_007178.3:c.87G>A

Select item 146039868013.

rs1460398680 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:15889988 (GRCh38)
12:16042922 (GRCh37)
Canonical SPDI:: NC_000012.12:15889987:C:T
Gene:: STRAP (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.15889988C>T, NC_000012.11:g.16042922C>T, NM_007178.4:c.309C>T, NM_007178.3:c.309C>T

Select item 146031093514.

rs1460310935 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:15899938 (GRCh38)
12:16052872 (GRCh37)
Canonical SPDI:: NC_000012.12:15899937:T:C
Gene:: STRAP (Varview)
Functional Consequence:: synonymous_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)
HGVS:: NC_000012.12:g.15899938T>C, NC_000012.11:g.16052872T>C, NM_007178.4:c.810T>C, NM_007178.3:c.810T>C

Select item 145952384915.

rs1459523849 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:15883595 (GRCh38)
12:16036529 (GRCh37)
Canonical SPDI:: NC_000012.12:15883594:T:G
Gene:: STRAP (Varview), LOC102724146 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.15883595T>G, NC_000012.11:g.16036529T>G, NM_007178.4:c.167T>G, NM_007178.3:c.167T>G, NP_009109.3:p.Leu56Trp

Select item 145853316816.

rs1458533168 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:15894065 (GRCh38)
12:16046999 (GRCh37)
Canonical SPDI:: NC_000012.12:15894064:G:T
Gene:: STRAP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.15894065G>T, NC_000012.11:g.16046999G>T, NM_007178.4:c.422G>T, NM_007178.3:c.422G>T, NP_009109.3:p.Gly141Val

Select item 144757678717.

rs1447576787 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:15900032 (GRCh38)
12:16052966 (GRCh37)
Canonical SPDI:: NC_000012.12:15900031:C:T
Gene:: STRAP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.15900032C>T, NC_000012.11:g.16052966C>T, NM_007178.4:c.904C>T, NM_007178.3:c.904C>T, NP_009109.3:p.Leu302Phe

Select item 143618312818.

rs1436183128 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 12:15902920 (GRCh38)
12:16055854 (GRCh37)
Canonical SPDI:: NC_000012.12:15902919:A:C,NC_000012.12:15902919:A:G
Gene:: STRAP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.15902920A>C, NC_000012.12:g.15902920A>G, NC_000012.11:g.16055854A>C, NC_000012.11:g.16055854A>G, NM_007178.4:c.995A>C, NM_007178.4:c.995A>G, NM_007178.3:c.995A>C, NM_007178.3:c.995A>G, NP_009109.3:p.Glu332Ala, NP_009109.3:p.Glu332Gly

Select item 143575535019.

rs1435755350 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:15895388 (GRCh38)
12:16048322 (GRCh37)
Canonical SPDI:: NC_000012.12:15895387:T:C
Gene:: STRAP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.15895388T>C, NC_000012.11:g.16048322T>C, NM_007178.4:c.530T>C, NM_007178.3:c.530T>C, NP_009109.3:p.Val177Ala

Select item 143019283320.

rs1430192833 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 12:15895378 (GRCh38)
12:16048312 (GRCh37)
Canonical SPDI:: NC_000012.12:15895377:A:G,NC_000012.12:15895377:A:T
Gene:: STRAP (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=0.000007/1 (GnomAD)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000012.12:g.15895378A>G, NC_000012.12:g.15895378A>T, NC_000012.11:g.16048312A>G, NC_000012.11:g.16048312A>T, NM_007178.4:c.520A>G, NM_007178.4:c.520A>T, NM_007178.3:c.520A>G, NM_007178.3:c.520A>T, NP_009109.3:p.Met174Val, NP_009109.3:p.Met174Leu

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