SNP Links for Protein (Select 68160947) - SNP

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Links from Protein

Items: 1 to 20 of 591

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Select item 14904574841.

rs1490457484 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:223598750 (GRCh38)
2:224463468 (GRCh37)
Canonical SPDI:: NC_000002.12:223598749:G:C
Gene:: SCG2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.223598750G>C, NC_000002.11:g.224463468G>C, NG_027998.1:g.8750C>G, NM_003469.5:c.533C>G, NM_003469.4:c.533C>G, NP_003460.2:p.Pro178Arg

Select item 14891653162.

rs1489165316 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:223598073 (GRCh38)
2:224462791 (GRCh37)
Canonical SPDI:: NC_000002.12:223598072:G:A,NC_000002.12:223598072:G:C
Gene:: SCG2 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.223598073G>A, NC_000002.12:g.223598073G>C, NC_000002.11:g.224462791G>A, NC_000002.11:g.224462791G>C, NG_027998.1:g.9427C>T, NG_027998.1:g.9427C>G, NM_003469.5:c.1210C>T, NM_003469.5:c.1210C>G, NM_003469.4:c.1210C>T, NM_003469.4:c.1210C>G, NP_003460.2:p.Leu404Val

Select item 14889314693.

rs1488931469 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:223597777 (GRCh38)
2:224462495 (GRCh37)
Canonical SPDI:: NC_000002.12:223597776:T:C,NC_000002.12:223597776:T:G
Gene:: SCG2 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.0002/1 (1000Genomes)
HGVS:: NC_000002.12:g.223597777T>C, NC_000002.12:g.223597777T>G, NC_000002.11:g.224462495T>C, NC_000002.11:g.224462495T>G, NG_027998.1:g.9723A>G, NG_027998.1:g.9723A>C, NM_003469.5:c.1506A>G, NM_003469.5:c.1506A>C, NM_003469.4:c.1506A>G, NM_003469.4:c.1506A>C, NP_003460.2:p.Gln502His

Select item 14881318604.

rs1488131860 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:223599208 (GRCh38)
2:224463926 (GRCh37)
Canonical SPDI:: NC_000002.12:223599207:A:G
Gene:: SCG2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.223599208A>G, NC_000002.11:g.224463926A>G, NG_027998.1:g.8292T>C, NM_003469.5:c.75T>C, NM_003469.4:c.75T>C

Select item 14863622905.

rs1486362290 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:223598501 (GRCh38)
2:224463219 (GRCh37)
Canonical SPDI:: NC_000002.12:223598500:G:A
Gene:: SCG2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.223598501G>A, NC_000002.11:g.224463219G>A, NG_027998.1:g.8999C>T, NM_003469.5:c.782C>T, NM_003469.4:c.782C>T, NP_003460.2:p.Thr261Ile

Select item 14855782306.

rs1485578230 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:223597691 (GRCh38)
2:224462409 (GRCh37)
Canonical SPDI:: NC_000002.12:223597690:C:A
Gene:: SCG2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.223597691C>A, NC_000002.11:g.224462409C>A, NG_027998.1:g.9809G>T, NM_003469.5:c.1592G>T, NM_003469.4:c.1592G>T, NP_003460.2:p.Gly531Val

Select item 14834195357.

rs1483419535 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:223597532 (GRCh38)
2:224462250 (GRCh37)
Canonical SPDI:: NC_000002.12:223597531:T:G
Gene:: SCG2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
HGVS:: NC_000002.12:g.223597532T>G, NC_000002.11:g.224462250T>G, NG_027998.1:g.9968A>C, NM_003469.5:c.1751A>C, NM_003469.4:c.1751A>C, NP_003460.2:p.Tyr584Ser

Select item 14825151618.

rs1482515161 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:223598699 (GRCh38)
2:224463417 (GRCh37)
Canonical SPDI:: NC_000002.12:223598698:A:G
Gene:: SCG2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.223598699A>G, NC_000002.11:g.224463417A>G, NG_027998.1:g.8801T>C, NM_003469.5:c.584T>C, NM_003469.4:c.584T>C, NP_003460.2:p.Leu195Pro

Select item 14816238739.

rs1481623873 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:223599096 (GRCh38)
2:224463814 (GRCh37)
Canonical SPDI:: NC_000002.12:223599095:C:G
Gene:: SCG2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.223599096C>G, NC_000002.11:g.224463814C>G, NG_027998.1:g.8404G>C, NM_003469.5:c.187G>C, NM_003469.4:c.187G>C, NP_003460.2:p.Glu63Gln

Select item 147891740310.

rs1478917403 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:223597630 (GRCh38)
2:224462348 (GRCh37)
Canonical SPDI:: NC_000002.12:223597629:C:T
Gene:: SCG2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.223597630C>T, NC_000002.11:g.224462348C>T, NG_027998.1:g.9870G>A, NM_003469.5:c.1653G>A, NM_003469.4:c.1653G>A

Select item 147881378511.

rs1478813785 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:223598901 (GRCh38)
2:224463619 (GRCh37)
Canonical SPDI:: NC_000002.12:223598900:C:T
Gene:: SCG2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.223598901C>T, NC_000002.11:g.224463619C>T, NG_027998.1:g.8599G>A, NM_003469.5:c.382G>A, NM_003469.4:c.382G>A, NP_003460.2:p.Ala128Thr

Select item 147847866212.

rs1478478662 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:223598864 (GRCh38)
2:224463582 (GRCh37)
Canonical SPDI:: NC_000002.12:223598863:T:C
Gene:: SCG2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.223598864T>C, NC_000002.11:g.224463582T>C, NG_027998.1:g.8636A>G, NM_003469.5:c.419A>G, NM_003469.4:c.419A>G, NP_003460.2:p.Glu140Gly

Select item 147837096513.

rs1478370965 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:223597698 (GRCh38)
2:224462416 (GRCh37)
Canonical SPDI:: NC_000002.12:223597697:C:G
Gene:: SCG2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.223597698C>G, NC_000002.11:g.224462416C>G, NG_027998.1:g.9802G>C, NM_003469.5:c.1585G>C, NM_003469.4:c.1585G>C, NP_003460.2:p.Gly529Arg

Select item 147833860414.

rs1478338604 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:223598004 (GRCh38)
2:224462722 (GRCh37)
Canonical SPDI:: NC_000002.12:223598003:G:A
Gene:: SCG2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.223598004G>A, NC_000002.11:g.224462722G>A, NG_027998.1:g.9496C>T, NM_003469.5:c.1279C>T, NM_003469.4:c.1279C>T

Select item 147821524015.

rs1478215240 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:223598421 (GRCh38)
2:224463139 (GRCh37)
Canonical SPDI:: NC_000002.12:223598420:G:A
Gene:: SCG2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.0003/1 (KOREAN)
HGVS:: NC_000002.12:g.223598421G>A, NC_000002.11:g.224463139G>A, NG_027998.1:g.9079C>T, NM_003469.5:c.862C>T, NM_003469.4:c.862C>T, NP_003460.2:p.Leu288Phe

Select item 147720578516.

rs1477205785 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:223599013 (GRCh38)
2:224463731 (GRCh37)
Canonical SPDI:: NC_000002.12:223599012:T:G
Gene:: SCG2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.223599013T>G, NC_000002.11:g.224463731T>G, NG_027998.1:g.8487A>C, NM_003469.5:c.270A>C, NM_003469.4:c.270A>C, NP_003460.2:p.Gln90His

Select item 147263090317.

rs1472630903 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:223598110 (GRCh38)
2:224462828 (GRCh37)
Canonical SPDI:: NC_000002.12:223598109:T:C
Gene:: SCG2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.223598110T>C, NC_000002.11:g.224462828T>C, NG_027998.1:g.9390A>G, NM_003469.5:c.1173A>G, NM_003469.4:c.1173A>G

Select item 146587867718.

rs1465878677 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:223597564 (GRCh38)
2:224462282 (GRCh37)
Canonical SPDI:: NC_000002.12:223597563:G:C
Gene:: SCG2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000002.12:g.223597564G>C, NC_000002.11:g.224462282G>C, NG_027998.1:g.9936C>G, NM_003469.5:c.1719C>G, NM_003469.4:c.1719C>G