SNP Links for Protein (Select 5453810) - SNP

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Links from Protein

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Select item 14909381881.

rs1490938188 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 16:2472284 (GRCh38)
16:2522285 (GRCh37)
Canonical SPDI:: NC_000016.10:2472283:A:C,NC_000016.10:2472283:A:G
Gene:: NTN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000016.10:g.2472284A>C, NC_000016.10:g.2472284A>G, NC_000016.9:g.2522285A>C, NC_000016.9:g.2522285A>G, NG_028170.1:g.2139A>C, NG_028170.1:g.2139A>G, NM_006181.3:c.583A>C, NM_006181.3:c.583A>G, NM_006181.2:c.583A>C, NM_006181.2:c.583A>G, NP_006172.1:p.Met195Leu, NP_006172.1:p.Met195Val

Select item 14895995042.

rs1489599504 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:2473791 (GRCh38)
16:2523792 (GRCh37)
Canonical SPDI:: NC_000016.10:2473790:C:A
Gene:: NTN3 (Varview), TBC1D24 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
HGVS:: NC_000016.10:g.2473791C>A, NC_000016.9:g.2523792C>A, NG_028170.1:g.3646C>A, NM_006181.3:c.1429C>A, NM_006181.2:c.1429C>A, NP_006172.1:p.Arg477Ser

Select item 14878605813.

rs1487860581 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CC [Show Flanks]
Chromosome:: 16:2472134 (GRCh38)
16:2522136 (GRCh37)
Canonical SPDI:: NC_000016.10:2472134:CCCC:CCCCCC
Gene:: NTN3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCC=0.000071/1 (ALFA)
CC=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.2472137_2472138dup, NC_000016.9:g.2522138_2522139dup, NG_028170.1:g.1992_1993dup, NM_006181.3:c.436_437dup, NM_006181.2:c.436_437dup, NP_006172.1:p.Leu147fs

Select item 14867104424.

rs1486710442 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:2473436 (GRCh38)
16:2523437 (GRCh37)
Canonical SPDI:: NC_000016.10:2473435:C:G,NC_000016.10:2473435:C:T
Gene:: NTN3 (Varview), TBC1D24 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.2473436C>G, NC_000016.10:g.2473436C>T, NC_000016.9:g.2523437C>G, NC_000016.9:g.2523437C>T, NG_028170.1:g.3291C>G, NG_028170.1:g.3291C>T, NM_006181.3:c.1326C>G, NM_006181.3:c.1326C>T, NM_006181.2:c.1326C>G, NM_006181.2:c.1326C>T, NP_006172.1:p.Asp442Glu

Select item 14848812035.

rs1484881203 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:2472745 (GRCh38)
16:2522746 (GRCh37)
Canonical SPDI:: NC_000016.10:2472744:G:A
Gene:: NTN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.2472745G>A, NC_000016.9:g.2522746G>A, NG_028170.1:g.2600G>A, NM_006181.3:c.973G>A, NM_006181.2:c.973G>A, NP_006172.1:p.Glu325Lys

Select item 14841334296.

rs1484133429 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 16:2471800 (GRCh38)
16:2521801 (GRCh37)
Canonical SPDI:: NC_000016.10:2471799:GGGGGG:GGGGG
Gene:: NTN3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000016.10:g.2471805del, NC_000016.9:g.2521806del, NG_028170.1:g.1660del, NM_006181.3:c.104del, NM_006181.2:c.104del, NP_006172.1:p.Gly35fs

Select item 14830500997.

rs1483050099 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:2472546 (GRCh38)
16:2522547 (GRCh37)
Canonical SPDI:: NC_000016.10:2472545:G:A,NC_000016.10:2472545:G:C
Gene:: NTN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.2472546G>A, NC_000016.10:g.2472546G>C, NC_000016.9:g.2522547G>A, NC_000016.9:g.2522547G>C, NG_028170.1:g.2401G>A, NG_028170.1:g.2401G>C, NM_006181.3:c.845G>A, NM_006181.3:c.845G>C, NM_006181.2:c.845G>A, NM_006181.2:c.845G>C, NP_006172.1:p.Gly282Asp, NP_006172.1:p.Gly282Ala

Select item 14829769068.

rs1482976906 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:2472756 (GRCh38)
16:2522757 (GRCh37)
Canonical SPDI:: NC_000016.10:2472755:A:G
Gene:: NTN3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.2472756A>G, NC_000016.9:g.2522757A>G, NG_028170.1:g.2611A>G, NM_006181.3:c.984A>G, NM_006181.2:c.984A>G

Select item 14799827449.

rs1479982744 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:2472792 (GRCh38)
16:2522793 (GRCh37)
Canonical SPDI:: NC_000016.10:2472791:C:A
Gene:: NTN3 (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=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.2472792C>A, NC_000016.9:g.2522793C>A, NG_028170.1:g.2647C>A, NM_006181.3:c.1020C>A, NM_006181.2:c.1020C>A, NP_006172.1:p.Asn340Lys

Select item 147979595510.

rs1479795955 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 16:2473058 (GRCh38)
16:2523059 (GRCh37)
Canonical SPDI:: NC_000016.10:2473057:T:
Gene:: NTN3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.2473058del, NC_000016.9:g.2523059del, NG_028170.1:g.2913del, NM_006181.3:c.1191del, NM_006181.2:c.1191del, NP_006172.1:p.Asp397fs

Select item 147926456711.

rs1479264567 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:2473943 (GRCh38)
16:2523944 (GRCh37)
Canonical SPDI:: NC_000016.10:2473942:G:A
Gene:: NTN3 (Varview), TBC1D24 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000016.10:g.2473943G>A, NC_000016.9:g.2523944G>A, NG_028170.1:g.3798G>A, NM_006181.3:c.1581G>A, NM_006181.2:c.1581G>A

Select item 147700059712.

rs1477000597 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:2472128 (GRCh38)
16:2522129 (GRCh37)
Canonical SPDI:: NC_000016.10:2472127:A:G
Gene:: NTN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.2472128A>G, NC_000016.9:g.2522129A>G, NG_028170.1:g.1983A>G, NM_006181.3:c.427A>G, NM_006181.2:c.427A>G, NP_006172.1:p.Ser143Gly

Select item 147585203913.

rs1475852039 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:2472856 (GRCh38)
16:2522857 (GRCh37)
Canonical SPDI:: NC_000016.10:2472855:G:A
Gene:: NTN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000016.10:g.2472856G>A, NC_000016.9:g.2522857G>A, NG_028170.1:g.2711G>A, NM_006181.3:c.1084G>A, NM_006181.2:c.1084G>A, NP_006172.1:p.Gly362Ser

Select item 147309792814.

rs1473097928 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:2473129 (GRCh38)
16:2523130 (GRCh37)
Canonical SPDI:: NC_000016.10:2473128:G:A
Gene:: NTN3 (Varview), TBC1D24 (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=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.2473129G>A, NC_000016.9:g.2523130G>A, NG_028170.1:g.2984G>A, NM_006181.3:c.1262G>A, NM_006181.2:c.1262G>A, NP_006172.1:p.Cys421Tyr

Select item 147256265415.

rs1472562654 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 16:2473876 (GRCh38)
16:2523877 (GRCh37)
Canonical SPDI:: NC_000016.10:2473875:T:C,NC_000016.10:2473875:T:G
Gene:: NTN3 (Varview), TBC1D24 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.2473876T>C, NC_000016.10:g.2473876T>G, NC_000016.9:g.2523877T>C, NC_000016.9:g.2523877T>G, NG_028170.1:g.3731T>C, NG_028170.1:g.3731T>G, NM_006181.3:c.1514T>C, NM_006181.3:c.1514T>G, NM_006181.2:c.1514T>C, NM_006181.2:c.1514T>G, NP_006172.1:p.Leu505Pro, NP_006172.1:p.Leu505Arg

Select item 147185097316.

rs1471850973 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:2471950 (GRCh38)
16:2521951 (GRCh37)
Canonical SPDI:: NC_000016.10:2471949:C:T
Gene:: NTN3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000005/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.2471950C>T, NC_000016.9:g.2521951C>T, NG_028170.1:g.1805C>T, NM_006181.3:c.249C>T, NM_006181.2:c.249C>T

Select item 147131229517.

rs1471312295 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:2471825 (GRCh38)
16:2521826 (GRCh37)
Canonical SPDI:: NC_000016.10:2471824:C:T
Gene:: NTN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.2471825C>T, NC_000016.9:g.2521826C>T, NG_028170.1:g.1680C>T, NM_006181.3:c.124C>T, NM_006181.2:c.124C>T, NP_006172.1:p.Pro42Ser

Select item 147095830518.

rs1470958305 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:2472865 (GRCh38)
16:2522866 (GRCh37)
Canonical SPDI:: NC_000016.10:2472864:C:T
Gene:: NTN3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.2472865C>T, NC_000016.9:g.2522866C>T, NG_028170.1:g.2720C>T, NM_006181.3:c.1093C>T, NM_006181.2:c.1093C>T

Select item 147031235819.

rs1470312358 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:2472207 (GRCh38)
16:2522208 (GRCh37)
Canonical SPDI:: NC_000016.10:2472206:C:G
Gene:: NTN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.2472207C>G, NC_000016.9:g.2522208C>G, NG_028170.1:g.2062C>G, NM_006181.3:c.506C>G, NM_006181.2:c.506C>G, NP_006172.1:p.Ala169Gly

Select item 146871541920.

rs1468715419 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:2474030 (GRCh38)
16:2524031 (GRCh37)
Canonical SPDI:: NC_000016.10:2474029:C:A
Gene:: NTN3 (Varview), TBC1D24 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: A=0.00014/2 (TOMMO)
HGVS:: NC_000016.10:g.2474030C>A, NC_000016.9:g.2524031C>A, NG_028170.1:g.3885C>A, NM_006181.3:c.1668C>A, NM_006181.2:c.1668C>A