SNP Links for Protein (Select 38788193) - SNP

Warning: The NCBI web site requires JavaScript to function. more...

Links from Protein

Items: 1 to 20 of 386

<< First< Prev

Page of 20

Next >Last >>

Select item 14832805151.

rs1483280515 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:89001947 (GRCh38)
9:91616862 (GRCh37)
Canonical SPDI:: NC_000009.12:89001946:G:A
Gene:: S1PR3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.89001947G>A, NC_000009.11:g.91616862G>A, NM_005226.4:c.747G>A, NM_005226.3:c.747G>A, NM_001395848.1:c.747G>A

Select item 14713766992.

rs1471376699 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:89001269 (GRCh38)
9:91616184 (GRCh37)
Canonical SPDI:: NC_000009.12:89001268:G:A
Gene:: S1PR3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.89001269G>A, NC_000009.11:g.91616184G>A, NM_005226.4:c.69G>A, NM_005226.3:c.69G>A, NM_001395848.1:c.69G>A

Select item 14709555683.

rs1470955568 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 9:89002261 (GRCh38)
9:91617177 (GRCh37)
Canonical SPDI:: NC_000009.12:89002261:CC:CCC
Gene:: S1PR3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.89002263dup, NC_000009.11:g.91617178dup, NM_005226.4:c.1063dup, NM_005226.3:c.1063dup, NM_001395848.1:c.1063dup, NP_005217.2:p.Leu355fs, NP_001382777.1:p.Leu355fs

Select item 14700354134.

rs1470035413 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:89001340 (GRCh38)
9:91616255 (GRCh37)
Canonical SPDI:: NC_000009.12:89001339:T:G
Gene:: S1PR3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.89001340T>G, NC_000009.11:g.91616255T>G, NM_005226.4:c.140T>G, NM_005226.3:c.140T>G, NM_001395848.1:c.140T>G, NP_005217.2:p.Leu47Trp, NP_001382777.1:p.Leu47Trp

Select item 14676739145.

rs1467673914 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:89001362 (GRCh38)
9:91616277 (GRCh37)
Canonical SPDI:: NC_000009.12:89001361:C:T
Gene:: S1PR3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000009.12:g.89001362C>T, NC_000009.11:g.91616277C>T, NM_005226.4:c.162C>T, NM_005226.3:c.162C>T, NM_001395848.1:c.162C>T

Select item 14658015426.

rs1465801542 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 9:89001527 (GRCh38)
9:91616442 (GRCh37)
Canonical SPDI:: NC_000009.12:89001526:GG:G
Gene:: S1PR3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.89001528del, NC_000009.11:g.91616443del, NM_005226.4:c.328del, NM_005226.3:c.328del, NM_001395848.1:c.328del, NP_005217.2:p.Val110fs, NP_001382777.1:p.Val110fs

Select item 14556550357.

rs1455655035 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:89002036 (GRCh38)
9:91616951 (GRCh37)
Canonical SPDI:: NC_000009.12:89002035:A:G
Gene:: S1PR3 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.89002036A>G, NC_000009.11:g.91616951A>G, NM_005226.4:c.836A>G, NM_005226.3:c.836A>G, NM_001395848.1:c.836A>G, NP_005217.2:p.Lys279Arg, NP_001382777.1:p.Lys279Arg

Select item 14505197118.

rs1450519711 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 9:89001444 (GRCh38)
9:91616359 (GRCh37)
Canonical SPDI:: NC_000009.12:89001443:G:A,NC_000009.12:89001443:G:T
Gene:: S1PR3 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000009.12:g.89001444G>A, NC_000009.12:g.89001444G>T, NC_000009.11:g.91616359G>A, NC_000009.11:g.91616359G>T, NM_005226.4:c.244G>A, NM_005226.4:c.244G>T, NM_005226.3:c.244G>A, NM_005226.3:c.244G>T, NM_001395848.1:c.244G>A, NM_001395848.1:c.244G>T, NP_005217.2:p.Ala82Thr, NP_005217.2:p.Ala82Ser, NP_001382777.1:p.Ala82Thr, NP_001382777.1:p.Ala82Ser

Select item 14446234929.

rs1444623492 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:89002290 (GRCh38)
9:91617205 (GRCh37)
Canonical SPDI:: NC_000009.12:89002289:A:G
Gene:: S1PR3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.89002290A>G, NC_000009.11:g.91617205A>G, NM_005226.4:c.1090A>G, NM_005226.3:c.1090A>G, NM_001395848.1:c.1090A>G, NP_005217.2:p.Ile364Val, NP_001382777.1:p.Ile364Val

Select item 144032233710.

rs1440322337 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:89001709 (GRCh38)
9:91616624 (GRCh37)
Canonical SPDI:: NC_000009.12:89001708:C:G,NC_000009.12:89001708:C:T
Gene:: S1PR3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.89001709C>G, NC_000009.12:g.89001709C>T, NC_000009.11:g.91616624C>G, NC_000009.11:g.91616624C>T, NM_005226.4:c.509C>G, NM_005226.4:c.509C>T, NM_005226.3:c.509C>G, NM_005226.3:c.509C>T, NM_001395848.1:c.509C>G, NM_001395848.1:c.509C>T, NP_005217.2:p.Ala170Gly, NP_005217.2:p.Ala170Val, NP_001382777.1:p.Ala170Gly, NP_001382777.1:p.Ala170Val

Select item 143814713711.

rs1438147137 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:89002065 (GRCh38)
9:91616980 (GRCh37)
Canonical SPDI:: NC_000009.12:89002064:C:T
Gene:: S1PR3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.89002065C>T, NC_000009.11:g.91616980C>T, NM_005226.4:c.865C>T, NM_005226.3:c.865C>T, NM_001395848.1:c.865C>T, NP_005217.2:p.Leu289Phe, NP_001382777.1:p.Leu289Phe

Select item 143545485312.

rs1435454853 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:89001252 (GRCh38)
9:91616167 (GRCh37)
Canonical SPDI:: NC_000009.12:89001251:C:T
Gene:: S1PR3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000009.12:g.89001252C>T, NC_000009.11:g.91616167C>T, NM_005226.4:c.52C>T, NM_005226.3:c.52C>T, NM_001395848.1:c.52C>T

Select item 143472384413.

rs1434723844 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 9:89002276 (GRCh38)
9:91617191 (GRCh37)
Canonical SPDI:: NC_000009.12:89002275:CCCCC:CCCC
Gene:: S1PR3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CCCC=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.89002280del, NC_000009.11:g.91617195del, NM_005226.4:c.1080del, NM_005226.3:c.1080del, NM_001395848.1:c.1080del, NP_005217.2:p.Ser361fs, NP_001382777.1:p.Ser361fs

Select item 143256889614.

rs1432568896 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:89002024 (GRCh38)
9:91616939 (GRCh37)
Canonical SPDI:: NC_000009.12:89002023:C:G
Gene:: S1PR3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.89002024C>G, NC_000009.11:g.91616939C>G, NM_005226.4:c.824C>G, NM_005226.3:c.824C>G, NM_001395848.1:c.824C>G, NP_005217.2:p.Pro275Arg, NP_001382777.1:p.Pro275Arg

Select item 143222300915.

rs1432223009 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 9:89001327 (GRCh38)
9:91616242 (GRCh37)
Canonical SPDI:: NC_000009.12:89001326:A:T
Gene:: S1PR3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
HGVS:: NC_000009.12:g.89001327A>T, NC_000009.11:g.91616242A>T, NM_005226.4:c.127A>T, NM_005226.3:c.127A>T, NM_001395848.1:c.127A>T, NP_005217.2:p.Thr43Ser, NP_001382777.1:p.Thr43Ser

Select item 142938628016.

rs1429386280 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:89001975 (GRCh38)
9:91616890 (GRCh37)
Canonical SPDI:: NC_000009.12:89001974:C:T
Gene:: S1PR3 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.89001975C>T, NC_000009.11:g.91616890C>T, NM_005226.4:c.775C>T, NM_005226.3:c.775C>T, NM_001395848.1:c.775C>T, NP_005217.2:p.Leu259Phe, NP_001382777.1:p.Leu259Phe

Select item 142335299317.

rs1423352993 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTCATCGTGTTGG>- [Show Flanks]
Chromosome:: 9:89002047 (GRCh38)
9:91616962 (GRCh37)
Canonical SPDI:: NC_000009.12:89002043:TGGTTCATCGTGTTGG:TGG
Gene:: S1PR3 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: TGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.89002047_89002059del, NC_000009.11:g.91616962_91616974del, NM_005226.4:c.847_859del, NM_005226.3:c.847_859del, NM_001395848.1:c.847_859del, NP_005217.2:p.Phe283fs, NP_001382777.1:p.Phe283fs

Select item 142045945418.

rs1420459454 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:89002173 (GRCh38)
9:91617088 (GRCh37)
Canonical SPDI:: NC_000009.12:89002172:G:A
Gene:: S1PR3 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.89002173G>A, NC_000009.11:g.91617088G>A, NM_005226.4:c.973G>A, NM_005226.3:c.973G>A, NM_001395848.1:c.973G>A, NP_005217.2:p.Ala325Thr, NP_001382777.1:p.Ala325Thr

Select item 141805576419.

rs1418055764 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 9:89001355 (GRCh38)
9:91616271 (GRCh37)
Canonical SPDI:: NC_000009.12:89001355:C:CC
Gene:: S1PR3 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.89001356dup, NC_000009.11:g.91616271dup, NM_005226.4:c.156dup, NM_005226.3:c.156dup, NM_001395848.1:c.156dup, NP_005217.2:p.Ile53fs, NP_001382777.1:p.Ile53fs

Select item 141721204420.

rs1417212044 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:89001281 (GRCh38)
9:91616196 (GRCh37)
Canonical SPDI:: NC_000009.12:89001280:G:A
Gene:: S1PR3 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.89001281G>A, NC_000009.11:g.91616196G>A, NM_005226.4:c.81G>A, NM_005226.3:c.81G>A, NM_001395848.1:c.81G>A