SNP Links for Protein (Select 966751446) - SNP

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Links from Protein

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Select item 14858320701.

rs1485832070 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:732764 (GRCh38)
17:636004 (GRCh37)
Canonical SPDI:: NC_000017.11:732763:C:T
Gene:: TLCD3A (Varview), LOC124903893 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.732764C>T, NC_000017.10:g.636004C>T, NM_024792.3:c.117C>T, NM_024792.2:c.117C>T, NM_024792.1:c.117C>T, NM_001318006.2:c.117C>T, NM_001318006.1:c.117C>T, NM_001318007.2:c.117C>T, NM_001318007.1:c.117C>T, NM_001318008.2:c.117C>T, NM_001318008.1:c.117C>T

Select item 14816501142.

rs1481650114 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:732736 (GRCh38)
17:635976 (GRCh37)
Canonical SPDI:: NC_000017.11:732735:G:T
Gene:: TLCD3A (Varview), LOC124903893 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.732736G>T, NC_000017.10:g.635976G>T, NM_024792.3:c.89G>T, NM_024792.2:c.89G>T, NM_024792.1:c.89G>T, NM_001318006.2:c.89G>T, NM_001318006.1:c.89G>T, NM_001318007.2:c.89G>T, NM_001318007.1:c.89G>T, NM_001318008.2:c.89G>T, NM_001318008.1:c.89G>T, NP_079068.1:p.Trp30Leu, NP_001304935.1:p.Trp30Leu, NP_001304936.1:p.Trp30Leu, NP_001304937.1:p.Trp30Leu

Select item 14543966823.

rs1454396682 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:732756 (GRCh38)
17:635996 (GRCh37)
Canonical SPDI:: NC_000017.11:732755:A:T
Gene:: TLCD3A (Varview), LOC124903893 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000013/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.000034/9 (TOPMED)
HGVS:: NC_000017.11:g.732756A>T, NC_000017.10:g.635996A>T, NM_024792.3:c.109A>T, NM_024792.2:c.109A>T, NM_024792.1:c.109A>T, NM_001318006.2:c.109A>T, NM_001318006.1:c.109A>T, NM_001318007.2:c.109A>T, NM_001318007.1:c.109A>T, NM_001318008.2:c.109A>T, NM_001318008.1:c.109A>T, NP_079068.1:p.Met37Leu, NP_001304935.1:p.Met37Leu, NP_001304936.1:p.Met37Leu, NP_001304937.1:p.Met37Leu

Select item 14468901484.

rs1446890148 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:733153 (GRCh38)
17:636393 (GRCh37)
Canonical SPDI:: NC_000017.11:733152:C:A,NC_000017.11:733152:C:T
Gene:: TLCD3A (Varview), LOC124903893 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.733153C>A, NC_000017.11:g.733153C>T, NC_000017.10:g.636393C>A, NC_000017.10:g.636393C>T, NM_024792.3:c.178C>A, NM_024792.3:c.178C>T, NM_024792.2:c.178C>A, NM_024792.2:c.178C>T, NM_024792.1:c.178C>A, NM_024792.1:c.178C>T, NM_001318006.2:c.178C>A, NM_001318006.2:c.178C>T, NM_001318006.1:c.178C>A, NM_001318006.1:c.178C>T, NM_001318007.2:c.178C>A, NM_001318007.2:c.178C>T, NM_001318007.1:c.178C>A, NM_001318007.1:c.178C>T, NM_001318008.2:c.178C>A, NM_001318008.2:c.178C>T, NM_001318008.1:c.178C>A, NM_001318008.1:c.178C>T, NP_079068.1:p.Arg60Ser, NP_079068.1:p.Arg60Cys, NP_001304935.1:p.Arg60Ser, NP_001304935.1:p.Arg60Cys, NP_001304936.1:p.Arg60Ser, NP_001304936.1:p.Arg60Cys, NP_001304937.1:p.Arg60Ser, NP_001304937.1:p.Arg60Cys

Select item 14280399505.

rs1428039950 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:733123 (GRCh38)
17:636363 (GRCh37)
Canonical SPDI:: NC_000017.11:733122:C:G
Gene:: TLCD3A (Varview), LOC124903893 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000015/3 (GnomAD_exomes)
HGVS:: NC_000017.11:g.733123C>G, NC_000017.10:g.636363C>G, NM_024792.3:c.148C>G, NM_024792.2:c.148C>G, NM_024792.1:c.148C>G, NM_001318006.2:c.148C>G, NM_001318006.1:c.148C>G, NM_001318007.2:c.148C>G, NM_001318007.1:c.148C>G, NM_001318008.2:c.148C>G, NM_001318008.1:c.148C>G, NP_079068.1:p.Leu50Val, NP_001304935.1:p.Leu50Val, NP_001304936.1:p.Leu50Val, NP_001304937.1:p.Leu50Val

Select item 14208562766.

rs1420856276 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:733102 (GRCh38)
17:636342 (GRCh37)
Canonical SPDI:: NC_000017.11:733101:G:A,NC_000017.11:733101:G:T
Gene:: TLCD3A (Varview), LOC124903893 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.733102G>A, NC_000017.11:g.733102G>T, NC_000017.10:g.636342G>A, NC_000017.10:g.636342G>T, NM_024792.3:c.127G>A, NM_024792.3:c.127G>T, NM_024792.2:c.127G>A, NM_024792.2:c.127G>T, NM_024792.1:c.127G>A, NM_024792.1:c.127G>T, NM_001318006.2:c.127G>A, NM_001318006.2:c.127G>T, NM_001318006.1:c.127G>A, NM_001318006.1:c.127G>T, NM_001318007.2:c.127G>A, NM_001318007.2:c.127G>T, NM_001318007.1:c.127G>A, NM_001318007.1:c.127G>T, NM_001318008.2:c.127G>A, NM_001318008.2:c.127G>T, NM_001318008.1:c.127G>A, NM_001318008.1:c.127G>T, NP_079068.1:p.Val43Ile, NP_079068.1:p.Val43Phe, NP_001304935.1:p.Val43Ile, NP_001304935.1:p.Val43Phe, NP_001304936.1:p.Val43Ile, NP_001304936.1:p.Val43Phe, NP_001304937.1:p.Val43Ile, NP_001304937.1:p.Val43Phe

Select item 14206040577.

rs1420604057 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:733149 (GRCh38)
17:636389 (GRCh37)
Canonical SPDI:: NC_000017.11:733148:C:T
Gene:: TLCD3A (Varview), LOC124903893 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.733149C>T, NC_000017.10:g.636389C>T, NM_024792.3:c.174C>T, NM_024792.2:c.174C>T, NM_024792.1:c.174C>T, NM_001318006.2:c.174C>T, NM_001318006.1:c.174C>T, NM_001318007.2:c.174C>T, NM_001318007.1:c.174C>T, NM_001318008.2:c.174C>T, NM_001318008.1:c.174C>T

Select item 14065595968.

rs1406559596 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:732666 (GRCh38)
17:635906 (GRCh37)
Canonical SPDI:: NC_000017.11:732665:G:C
Gene:: TLCD3A (Varview), LOC124903893 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.00007/1 (TOMMO)
HGVS:: NC_000017.11:g.732666G>C, NC_000017.10:g.635906G>C, NM_024792.3:c.19G>C, NM_024792.2:c.19G>C, NM_024792.1:c.19G>C, NM_001318006.2:c.19G>C, NM_001318006.1:c.19G>C, NM_001318007.2:c.19G>C, NM_001318007.1:c.19G>C, NM_001318008.2:c.19G>C, NM_001318008.1:c.19G>C, NP_079068.1:p.Gly7Arg, NP_001304935.1:p.Gly7Arg, NP_001304936.1:p.Gly7Arg, NP_001304937.1:p.Gly7Arg

Select item 14053653249.

rs1405365324 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:733107 (GRCh38)
17:636347 (GRCh37)
Canonical SPDI:: NC_000017.11:733106:C:T
Gene:: TLCD3A (Varview), LOC124903893 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.733107C>T, NC_000017.10:g.636347C>T, NM_024792.3:c.132C>T, NM_024792.2:c.132C>T, NM_024792.1:c.132C>T, NM_001318006.2:c.132C>T, NM_001318006.1:c.132C>T, NM_001318007.2:c.132C>T, NM_001318007.1:c.132C>T, NM_001318008.2:c.132C>T, NM_001318008.1:c.132C>T

Select item 139652326210.

rs1396523262 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAT>- [Show Flanks]
Chromosome:: 17:732758 (GRCh38)
17:635998 (GRCh37)
Canonical SPDI:: NC_000017.11:732753:TGATGAT:TGAT
Gene:: TLCD3A (Varview), LOC124903893 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion,upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000017.11:g.732755GAT[1], NC_000017.10:g.635995GAT[1], NM_024792.3:c.108GAT[1], NM_024792.2:c.108GAT[1], NM_024792.1:c.108GAT[1], NM_001318006.2:c.108GAT[1], NM_001318006.1:c.108GAT[1], NM_001318007.2:c.108GAT[1], NM_001318007.1:c.108GAT[1], NM_001318008.2:c.108GAT[1], NM_001318008.1:c.108GAT[1], NP_079068.1:p.Met37del, NP_001304935.1:p.Met37del, NP_001304936.1:p.Met37del, NP_001304937.1:p.Met37del

Select item 139606797611.

rs1396067976 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:732719 (GRCh38)
17:635959 (GRCh37)
Canonical SPDI:: NC_000017.11:732718:C:G
Gene:: TLCD3A (Varview), LOC124903893 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.732719C>G, NC_000017.10:g.635959C>G, NM_024792.3:c.72C>G, NM_024792.2:c.72C>G, NM_024792.1:c.72C>G, NM_001318006.2:c.72C>G, NM_001318006.1:c.72C>G, NM_001318007.2:c.72C>G, NM_001318007.1:c.72C>G, NM_001318008.2:c.72C>G, NM_001318008.1:c.72C>G

Select item 139313942612.

rs1393139426 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:732718 (GRCh38)
17:635958 (GRCh37)
Canonical SPDI:: NC_000017.11:732717:G:A
Gene:: TLCD3A (Varview), LOC124903893 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.732718G>A, NC_000017.10:g.635958G>A, NM_024792.3:c.71G>A, NM_024792.2:c.71G>A, NM_024792.1:c.71G>A, NM_001318006.2:c.71G>A, NM_001318006.1:c.71G>A, NM_001318007.2:c.71G>A, NM_001318007.1:c.71G>A, NM_001318008.2:c.71G>A, NM_001318008.1:c.71G>A, NP_079068.1:p.Arg24His, NP_001304935.1:p.Arg24His, NP_001304936.1:p.Arg24His, NP_001304937.1:p.Arg24His

Select item 137747718013.

rs1377477180 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:732663 (GRCh38)
17:635903 (GRCh37)
Canonical SPDI:: NC_000017.11:732662:G:A,NC_000017.11:732662:G:T
Gene:: TLCD3A (Varview), LOC124903893 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.732663G>A, NC_000017.11:g.732663G>T, NC_000017.10:g.635903G>A, NC_000017.10:g.635903G>T, NM_024792.3:c.16G>A, NM_024792.3:c.16G>T, NM_024792.2:c.16G>A, NM_024792.2:c.16G>T, NM_024792.1:c.16G>A, NM_024792.1:c.16G>T, NM_001318006.2:c.16G>A, NM_001318006.2:c.16G>T, NM_001318006.1:c.16G>A, NM_001318006.1:c.16G>T, NM_001318007.2:c.16G>A, NM_001318007.2:c.16G>T, NM_001318007.1:c.16G>A, NM_001318007.1:c.16G>T, NM_001318008.2:c.16G>A, NM_001318008.2:c.16G>T, NM_001318008.1:c.16G>A, NM_001318008.1:c.16G>T, NP_079068.1:p.Ala6Thr, NP_079068.1:p.Ala6Ser, NP_001304935.1:p.Ala6Thr, NP_001304935.1:p.Ala6Ser, NP_001304936.1:p.Ala6Thr, NP_001304936.1:p.Ala6Ser, NP_001304937.1:p.Ala6Thr, NP_001304937.1:p.Ala6Ser

Select item 137176392014.

rs1371763920 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:733167 (GRCh38)
17:636407 (GRCh37)
Canonical SPDI:: NC_000017.11:733166:C:T
Gene:: TLCD3A (Varview), LOC124903893 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.733167C>T, NC_000017.10:g.636407C>T, NM_024792.3:c.192C>T, NM_024792.2:c.192C>T, NM_024792.1:c.192C>T, NM_001318006.2:c.192C>T, NM_001318006.1:c.192C>T, NM_001318007.2:c.192C>T, NM_001318007.1:c.192C>T, NM_001318008.2:c.192C>T, NM_001318008.1:c.192C>T

Select item 137110490215.

rs1371104902 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:732716 (GRCh38)
17:635956 (GRCh37)
Canonical SPDI:: NC_000017.11:732715:G:C
Gene:: TLCD3A (Varview), LOC124903893 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.732716G>C, NC_000017.10:g.635956G>C, NM_024792.3:c.69G>C, NM_024792.2:c.69G>C, NM_024792.1:c.69G>C, NM_001318006.2:c.69G>C, NM_001318006.1:c.69G>C, NM_001318007.2:c.69G>C, NM_001318007.1:c.69G>C, NM_001318008.2:c.69G>C, NM_001318008.1:c.69G>C

Select item 136400913016.

rs1364009130 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:732706 (GRCh38)
17:635946 (GRCh37)
Canonical SPDI:: NC_000017.11:732705:C:A
Gene:: TLCD3A (Varview), LOC124903893 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.732706C>A, NC_000017.10:g.635946C>A, NM_024792.3:c.59C>A, NM_024792.2:c.59C>A, NM_024792.1:c.59C>A, NM_001318006.2:c.59C>A, NM_001318006.1:c.59C>A, NM_001318007.2:c.59C>A, NM_001318007.1:c.59C>A, NM_001318008.2:c.59C>A, NM_001318008.1:c.59C>A, NP_079068.1:p.Thr20Asn, NP_001304935.1:p.Thr20Asn, NP_001304936.1:p.Thr20Asn, NP_001304937.1:p.Thr20Asn

Select item 135232639317.

rs1352326393 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 17:732766 (GRCh38)
17:636006 (GRCh37)
Canonical SPDI:: NC_000017.11:732765:CC:C
Gene:: TLCD3A (Varview), LOC124903893 (Varview)
Functional Consequence:: upstream_transcript_variant,frameshift_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: -=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.732767del, NC_000017.10:g.636007del, NM_024792.3:c.120del, NM_024792.2:c.120del, NM_024792.1:c.120del, NM_001318006.2:c.120del, NM_001318006.1:c.120del, NM_001318007.2:c.120del, NM_001318007.1:c.120del, NM_001318008.2:c.120del, NM_001318008.1:c.120del, NP_079068.1:p.Arg41fs, NP_001304935.1:p.Arg41fs, NP_001304936.1:p.Arg41fs, NP_001304937.1:p.Arg41fs

Select item 134879483618.

rs1348794836 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:732730 (GRCh38)
17:635970 (GRCh37)
Canonical SPDI:: NC_000017.11:732729:C:A,NC_000017.11:732729:C:T
Gene:: TLCD3A (Varview), LOC124903893 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: T=0.00006/1 (TOMMO)
HGVS:: NC_000017.11:g.732730C>A, NC_000017.11:g.732730C>T, NC_000017.10:g.635970C>A, NC_000017.10:g.635970C>T, NM_024792.3:c.83C>A, NM_024792.3:c.83C>T, NM_024792.2:c.83C>A, NM_024792.2:c.83C>T, NM_024792.1:c.83C>A, NM_024792.1:c.83C>T, NM_001318006.2:c.83C>A, NM_001318006.2:c.83C>T, NM_001318006.1:c.83C>A, NM_001318006.1:c.83C>T, NM_001318007.2:c.83C>A, NM_001318007.2:c.83C>T, NM_001318007.1:c.83C>A, NM_001318007.1:c.83C>T, NM_001318008.2:c.83C>A, NM_001318008.2:c.83C>T, NM_001318008.1:c.83C>A, NM_001318008.1:c.83C>T, NP_079068.1:p.Pro28His, NP_079068.1:p.Pro28Leu, NP_001304935.1:p.Pro28His, NP_001304935.1:p.Pro28Leu, NP_001304936.1:p.Pro28His, NP_001304936.1:p.Pro28Leu, NP_001304937.1:p.Pro28His, NP_001304937.1:p.Pro28Leu

Select item 133671560619.

rs1336715606 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:733133 (GRCh38)
17:636373 (GRCh37)
Canonical SPDI:: NC_000017.11:733132:G:A
Gene:: TLCD3A (Varview), LOC124903893 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
HGVS:: NC_000017.11:g.733133G>A, NC_000017.10:g.636373G>A, NM_024792.3:c.158G>A, NM_024792.2:c.158G>A, NM_024792.1:c.158G>A, NM_001318006.2:c.158G>A, NM_001318006.1:c.158G>A, NM_001318007.2:c.158G>A, NM_001318007.1:c.158G>A, NM_001318008.2:c.158G>A, NM_001318008.1:c.158G>A, NP_079068.1:p.Gly53Asp, NP_001304935.1:p.Gly53Asp, NP_001304936.1:p.Gly53Asp, NP_001304937.1:p.Gly53Asp

Select item 132621360920.

rs1326213609 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:733119 (GRCh38)
17:636359 (GRCh37)
Canonical SPDI:: NC_000017.11:733118:C:A,NC_000017.11:733118:C:T
Gene:: TLCD3A (Varview), LOC124903893 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.733119C>A, NC_000017.11:g.733119C>T, NC_000017.10:g.636359C>A, NC_000017.10:g.636359C>T, NM_024792.3:c.144C>A, NM_024792.3:c.144C>T, NM_024792.2:c.144C>A, NM_024792.2:c.144C>T, NM_024792.1:c.144C>A, NM_024792.1:c.144C>T, NM_001318006.2:c.144C>A, NM_001318006.2:c.144C>T, NM_001318006.1:c.144C>A, NM_001318006.1:c.144C>T, NM_001318007.2:c.144C>A, NM_001318007.2:c.144C>T, NM_001318007.1:c.144C>A, NM_001318007.1:c.144C>T, NM_001318008.2:c.144C>A, NM_001318008.2:c.144C>T, NM_001318008.1:c.144C>A, NM_001318008.1:c.144C>T

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