SNP Links for Protein (Select 974005333) - SNP

Links from Protein

Items: 1 to 20 of 938

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Select item 14903167171.

rs1490316717 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:165188477 (GRCh38)
3:164906265 (GRCh37)
Canonical SPDI:: NC_000003.12:165188476:G:A
Gene:: SLITRK3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000021/3 (GnomAD)
A=0.00003/8 (TOPMED)
HGVS:: NC_000003.12:g.165188477G>A, NC_000003.11:g.164906265G>A, NM_014926.4:c.2354C>T, NM_014926.3:c.2354C>T, NM_014926.2:c.2354C>T, NM_001318810.2:c.2354C>T, NM_001318810.1:c.2354C>T, NM_001318811.2:c.2354C>T, NM_001318811.1:c.2354C>T, NP_055741.2:p.Pro785Leu, NP_001305739.1:p.Pro785Leu, NP_001305740.1:p.Pro785Leu

Select item 14902649842.

rs1490264984 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:165187911 (GRCh38)
3:164905699 (GRCh37)
Canonical SPDI:: NC_000003.12:165187910:T:C
Gene:: SLITRK3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.165187911T>C, NC_000003.11:g.164905699T>C, NM_014926.4:c.2920A>G, NM_014926.3:c.2920A>G, NM_014926.2:c.2920A>G, NM_001318810.2:c.2920A>G, NM_001318810.1:c.2920A>G, NM_001318811.2:c.2920A>G, NM_001318811.1:c.2920A>G, NP_055741.2:p.Thr974Ala, NP_001305739.1:p.Thr974Ala, NP_001305740.1:p.Thr974Ala

Select item 14901126783.

rs1490112678 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:165189504 (GRCh38)
3:164907292 (GRCh37)
Canonical SPDI:: NC_000003.12:165189503:G:A
Gene:: SLITRK3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.165189504G>A, NC_000003.11:g.164907292G>A, NM_014926.4:c.1327C>T, NM_014926.3:c.1327C>T, NM_014926.2:c.1327C>T, NM_001318810.2:c.1327C>T, NM_001318810.1:c.1327C>T, NM_001318811.2:c.1327C>T, NM_001318811.1:c.1327C>T, NP_055741.2:p.Arg443Cys, NP_001305739.1:p.Arg443Cys, NP_001305740.1:p.Arg443Cys

Select item 14900606264.

rs1490060626 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:165188001 (GRCh38)
3:164905789 (GRCh37)
Canonical SPDI:: NC_000003.12:165188000:T:C
Gene:: SLITRK3 (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)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.165188001T>C, NC_000003.11:g.164905789T>C, NM_014926.4:c.2830A>G, NM_014926.3:c.2830A>G, NM_014926.2:c.2830A>G, NM_001318810.2:c.2830A>G, NM_001318810.1:c.2830A>G, NM_001318811.2:c.2830A>G, NM_001318811.1:c.2830A>G, NP_055741.2:p.Thr944Ala, NP_001305739.1:p.Thr944Ala, NP_001305740.1:p.Thr944Ala

Select item 14892007625.

rs1489200762 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:165188827 (GRCh38)
3:164906615 (GRCh37)
Canonical SPDI:: NC_000003.12:165188826:G:A
Gene:: SLITRK3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.165188827G>A, NC_000003.11:g.164906615G>A, NM_014926.4:c.2004C>T, NM_014926.3:c.2004C>T, NM_014926.2:c.2004C>T, NM_001318810.2:c.2004C>T, NM_001318810.1:c.2004C>T, NM_001318811.2:c.2004C>T, NM_001318811.1:c.2004C>T

Select item 14888023506.

rs1488802350 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTA>- [Show Flanks]
Chromosome:: 3:165188414 (GRCh38)
3:164906202 (GRCh37)
Canonical SPDI:: NC_000003.12:165188411:TACTA:TA
Gene:: SLITRK3 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.165188414_165188416del, NC_000003.11:g.164906202_164906204del, NM_014926.4:c.2417_2419del, NM_014926.3:c.2417_2419del, NM_014926.2:c.2417_2419del, NM_001318810.2:c.2417_2419del, NM_001318810.1:c.2417_2419del, NM_001318811.2:c.2417_2419del, NM_001318811.1:c.2417_2419del, NP_055741.2:p.Ser806del, NP_001305739.1:p.Ser806del, NP_001305740.1:p.Ser806del

Select item 14887312887.

rs1488731288 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:165188199 (GRCh38)
3:164905987 (GRCh37)
Canonical SPDI:: NC_000003.12:165188198:A:T
Gene:: SLITRK3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.165188199A>T, NC_000003.11:g.164905987A>T, NM_014926.4:c.2632T>A, NM_014926.3:c.2632T>A, NM_014926.2:c.2632T>A, NM_001318810.2:c.2632T>A, NM_001318810.1:c.2632T>A, NM_001318811.2:c.2632T>A, NM_001318811.1:c.2632T>A, NP_055741.2:p.Cys878Ser, NP_001305739.1:p.Cys878Ser, NP_001305740.1:p.Cys878Ser

Select item 14887109758.

rs1488710975 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:165189382 (GRCh38)
3:164907170 (GRCh37)
Canonical SPDI:: NC_000003.12:165189381:G:A
Gene:: SLITRK3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.165189382G>A, NC_000003.11:g.164907170G>A, NM_014926.4:c.1449C>T, NM_014926.3:c.1449C>T, NM_014926.2:c.1449C>T, NM_001318810.2:c.1449C>T, NM_001318810.1:c.1449C>T, NM_001318811.2:c.1449C>T, NM_001318811.1:c.1449C>T

Select item 14869152449.

rs1486915244 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:165189907 (GRCh38)
3:164907695 (GRCh37)
Canonical SPDI:: NC_000003.12:165189906:A:G
Gene:: SLITRK3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.165189907A>G, NC_000003.11:g.164907695A>G, NM_014926.4:c.924T>C, NM_014926.3:c.924T>C, NM_014926.2:c.924T>C, NM_001318810.2:c.924T>C, NM_001318810.1:c.924T>C, NM_001318811.2:c.924T>C, NM_001318811.1:c.924T>C

Select item 148680763110.

rs1486807631 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:165189670 (GRCh38)
3:164907458 (GRCh37)
Canonical SPDI:: NC_000003.12:165189669:G:A
Gene:: SLITRK3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.165189670G>A, NC_000003.11:g.164907458G>A, NM_014926.4:c.1161C>T, NM_014926.3:c.1161C>T, NM_014926.2:c.1161C>T, NM_001318810.2:c.1161C>T, NM_001318810.1:c.1161C>T, NM_001318811.2:c.1161C>T, NM_001318811.1:c.1161C>T

Select item 148587845111.

rs1485878451 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:165190165 (GRCh38)
3:164907953 (GRCh37)
Canonical SPDI:: NC_000003.12:165190164:T:A
Gene:: SLITRK3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000003.12:g.165190165T>A, NC_000003.11:g.164907953T>A, NM_014926.4:c.666A>T, NM_014926.3:c.666A>T, NM_014926.2:c.666A>T, NM_001318810.2:c.666A>T, NM_001318810.1:c.666A>T, NM_001318811.2:c.666A>T, NM_001318811.1:c.666A>T, NP_055741.2:p.Arg222Ser, NP_001305739.1:p.Arg222Ser, NP_001305740.1:p.Arg222Ser

Select item 148485950312.

rs1484859503 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:165190406 (GRCh38)
3:164908194 (GRCh37)
Canonical SPDI:: NC_000003.12:165190405:T:C
Gene:: SLITRK3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000051/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.165190406T>C, NC_000003.11:g.164908194T>C, NM_014926.4:c.425A>G, NM_014926.3:c.425A>G, NM_014926.2:c.425A>G, NM_001318810.2:c.425A>G, NM_001318810.1:c.425A>G, NM_001318811.2:c.425A>G, NM_001318811.1:c.425A>G, NP_055741.2:p.Asn142Ser, NP_001305739.1:p.Asn142Ser, NP_001305740.1:p.Asn142Ser

Select item 148465582613.

rs1484655826 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:165188114 (GRCh38)
3:164905902 (GRCh37)
Canonical SPDI:: NC_000003.12:165188113:G:A
Gene:: SLITRK3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000003.12:g.165188114G>A, NC_000003.11:g.164905902G>A, NM_014926.4:c.2717C>T, NM_014926.3:c.2717C>T, NM_014926.2:c.2717C>T, NM_001318810.2:c.2717C>T, NM_001318810.1:c.2717C>T, NM_001318811.2:c.2717C>T, NM_001318811.1:c.2717C>T, NP_055741.2:p.Thr906Ile, NP_001305739.1:p.Thr906Ile, NP_001305740.1:p.Thr906Ile

Select item 148269741814.

rs1482697418 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:165188752 (GRCh38)
3:164906540 (GRCh37)
Canonical SPDI:: NC_000003.12:165188751:C:T
Gene:: SLITRK3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.165188752C>T, NC_000003.11:g.164906540C>T, NM_014926.4:c.2079G>A, NM_014926.3:c.2079G>A, NM_014926.2:c.2079G>A, NM_001318810.2:c.2079G>A, NM_001318810.1:c.2079G>A, NM_001318811.2:c.2079G>A, NM_001318811.1:c.2079G>A

Select item 147873522115.

rs1478735221 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:165188045 (GRCh38)
3:164905833 (GRCh37)
Canonical SPDI:: NC_000003.12:165188044:G:A
Gene:: SLITRK3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.165188045G>A, NC_000003.11:g.164905833G>A, NM_014926.4:c.2786C>T, NM_014926.3:c.2786C>T, NM_014926.2:c.2786C>T, NM_001318810.2:c.2786C>T, NM_001318810.1:c.2786C>T, NM_001318811.2:c.2786C>T, NM_001318811.1:c.2786C>T, NP_055741.2:p.Ala929Val, NP_001305739.1:p.Ala929Val, NP_001305740.1:p.Ala929Val

Select item 147866165416.

rs1478661654 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 3:165188126 (GRCh38)
3:164905914 (GRCh37)
Canonical SPDI:: NC_000003.12:165188125:C:A,NC_000003.12:165188125:C:G
Gene:: SLITRK3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
G=0./0 (KOREAN)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.165188126C>A, NC_000003.12:g.165188126C>G, NC_000003.11:g.164905914C>A, NC_000003.11:g.164905914C>G, NM_014926.4:c.2705G>T, NM_014926.4:c.2705G>C, NM_014926.3:c.2705G>T, NM_014926.3:c.2705G>C, NM_014926.2:c.2705G>T, NM_014926.2:c.2705G>C, NM_001318810.2:c.2705G>T, NM_001318810.2:c.2705G>C, NM_001318810.1:c.2705G>T, NM_001318810.1:c.2705G>C, NM_001318811.2:c.2705G>T, NM_001318811.2:c.2705G>C, NM_001318811.1:c.2705G>T, NM_001318811.1:c.2705G>C, NP_055741.2:p.Cys902Phe, NP_055741.2:p.Cys902Ser, NP_001305739.1:p.Cys902Phe, NP_001305739.1:p.Cys902Ser, NP_001305740.1:p.Cys902Phe, NP_001305740.1:p.Cys902Ser

Select item 147744074617.

rs1477440746 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:165189470 (GRCh38)
3:164907258 (GRCh37)
Canonical SPDI:: NC_000003.12:165189469:T:C
Gene:: SLITRK3 (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)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.165189470T>C, NC_000003.11:g.164907258T>C, NM_014926.4:c.1361A>G, NM_014926.3:c.1361A>G, NM_014926.2:c.1361A>G, NM_001318810.2:c.1361A>G, NM_001318810.1:c.1361A>G, NM_001318811.2:c.1361A>G, NM_001318811.1:c.1361A>G, NP_055741.2:p.Asn454Ser, NP_001305739.1:p.Asn454Ser, NP_001305740.1:p.Asn454Ser

Select item 147680944218.

rs1476809442 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:165189420 (GRCh38)
3:164907208 (GRCh37)
Canonical SPDI:: NC_000003.12:165189419:G:A,NC_000003.12:165189419:G:T
Gene:: SLITRK3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.000053/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.165189420G>A, NC_000003.12:g.165189420G>T, NC_000003.11:g.164907208G>A, NC_000003.11:g.164907208G>T, NM_014926.4:c.1411C>T, NM_014926.4:c.1411C>A, NM_014926.3:c.1411C>T, NM_014926.3:c.1411C>A, NM_014926.2:c.1411C>T, NM_014926.2:c.1411C>A, NM_001318810.2:c.1411C>T, NM_001318810.2:c.1411C>A, NM_001318810.1:c.1411C>T, NM_001318810.1:c.1411C>A, NM_001318811.2:c.1411C>T, NM_001318811.2:c.1411C>A, NM_001318811.1:c.1411C>T, NM_001318811.1:c.1411C>A, NP_055741.2:p.Leu471Met, NP_001305739.1:p.Leu471Met, NP_001305740.1:p.Leu471Met

Select item 147648325419.

rs1476483254 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 3:165189855 (GRCh38)
3:164907643 (GRCh37)
Canonical SPDI:: NC_000003.12:165189854:A:G,NC_000003.12:165189854:A:T
Gene:: SLITRK3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.165189855A>G, NC_000003.12:g.165189855A>T, NC_000003.11:g.164907643A>G, NC_000003.11:g.164907643A>T, NM_014926.4:c.976T>C, NM_014926.4:c.976T>A, NM_014926.3:c.976T>C, NM_014926.3:c.976T>A, NM_014926.2:c.976T>C, NM_014926.2:c.976T>A, NM_001318810.2:c.976T>C, NM_001318810.2:c.976T>A, NM_001318810.1:c.976T>C, NM_001318810.1:c.976T>A, NM_001318811.2:c.976T>C, NM_001318811.2:c.976T>A, NM_001318811.1:c.976T>C, NM_001318811.1:c.976T>A, NP_055741.2:p.Tyr326His, NP_055741.2:p.Tyr326Asn, NP_001305739.1:p.Tyr326His, NP_001305739.1:p.Tyr326Asn, NP_001305740.1:p.Tyr326His, NP_001305740.1:p.Tyr326Asn

Select item 147484680220.

rs1474846802 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:165190207 (GRCh38)
3:164907995 (GRCh37)
Canonical SPDI:: NC_000003.12:165190206:T:C
Gene:: SLITRK3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.165190207T>C, NC_000003.11:g.164907995T>C, NM_014926.4:c.624A>G, NM_014926.3:c.624A>G, NM_014926.2:c.624A>G, NM_001318810.2:c.624A>G, NM_001318810.1:c.624A>G, NM_001318811.2:c.624A>G, NM_001318811.1:c.624A>G

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