SNP Links for Protein (Select 311771592) - SNP

Links from Protein

Items: 1 to 20 of 212

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Select item 14857865911.

rs1485786591 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:159772013 (GRCh38)
2:160628524 (GRCh37)
Canonical SPDI:: NC_000002.12:159772012:C:T
Gene:: CD302 (Varview), LY75-CD302 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000002.12:g.159772013C>T, NC_000002.11:g.160628524C>T, NM_014880.5:c.537G>A, NM_014880.4:c.537G>A, NM_001198764.2:c.426G>A, NM_001198764.1:c.426G>A, NM_001198763.2:c.363G>A, NM_001198763.1:c.363G>A, NM_001198759.1:c.5460G>A, NM_001198760.1:c.5292G>A

Select item 14800650762.

rs1480065076 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:159771854 (GRCh38)
2:160628365 (GRCh37)
Canonical SPDI:: NC_000002.12:159771853:G:C
Gene:: CD302 (Varview), LY75-CD302 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.159771854G>C, NC_000002.11:g.160628365G>C, NM_014880.5:c.696C>G, NM_014880.4:c.696C>G, NM_001198764.2:c.585C>G, NM_001198764.1:c.585C>G, NM_001198763.2:c.522C>G, NM_001198763.1:c.522C>G, NM_001198759.1:c.5619C>G, NM_001198760.1:c.5451C>G, NP_055695.2:p.Asp232Glu, NP_001185693.1:p.Asp195Glu, NP_001185692.1:p.Asp174Glu, NP_001185688.1:p.Asp1873Glu, NP_001185689.1:p.Asp1817Glu

Select item 14758621463.

rs1475862146 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:159772034 (GRCh38)
2:160628545 (GRCh37)
Canonical SPDI:: NC_000002.12:159772033:T:A
Gene:: CD302 (Varview), LY75-CD302 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.159772034T>A, NC_000002.11:g.160628545T>A, NM_014880.5:c.516A>T, NM_014880.4:c.516A>T, NM_001198764.2:c.405A>T, NM_001198764.1:c.405A>T, NM_001198763.2:c.342A>T, NM_001198763.1:c.342A>T, NM_001198759.1:c.5439A>T, NM_001198760.1:c.5271A>T

Select item 14706336134.

rs1470633613 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 2:159771920 (GRCh38)
2:160628431 (GRCh37)
Canonical SPDI:: NC_000002.12:159771919:TT:T
Gene:: CD302 (Varview), LY75-CD302 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.159771921del, NC_000002.11:g.160628432del, NM_014880.5:c.630del, NM_014880.4:c.630del, NM_001198764.2:c.519del, NM_001198764.1:c.519del, NM_001198763.2:c.456del, NM_001198763.1:c.456del, NM_001198759.1:c.5553del, NM_001198760.1:c.5385del, NP_055695.2:p.Gln210fs, NP_001185693.1:p.Gln173fs, NP_001185692.1:p.Gln152fs, NP_001185688.1:p.Gln1851fs, NP_001185689.1:p.Gln1795fs

Select item 14638190845.

rs1463819084 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:159798194 (GRCh38)
2:160654705 (GRCh37)
Canonical SPDI:: NC_000002.12:159798193:A:T
Gene:: CD302 (Varview), LY75-CD302 (Varview), LOC124906083 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000084/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.159798194A>T, NC_000002.11:g.160654705A>T, NM_014880.5:c.5T>A, NM_014880.4:c.5T>A, NM_001198764.2:c.5T>A, NM_001198764.1:c.5T>A, NM_001198763.2:c.5T>A, NM_001198763.1:c.5T>A, NP_055695.2:p.Leu2His, NP_001185693.1:p.Leu2His, NP_001185692.1:p.Leu2His

Select item 14612216136.

rs1461221613 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:159798191 (GRCh38)
2:160654702 (GRCh37)
Canonical SPDI:: NC_000002.12:159798190:C:G
Gene:: CD302 (Varview), LY75-CD302 (Varview), LOC124906083 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000084/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.159798191C>G, NC_000002.11:g.160654702C>G, NM_014880.5:c.8G>C, NM_014880.4:c.8G>C, NM_001198764.2:c.8G>C, NM_001198764.1:c.8G>C, NM_001198763.2:c.8G>C, NM_001198763.1:c.8G>C, NP_055695.2:p.Arg3Pro, NP_001185693.1:p.Arg3Pro, NP_001185692.1:p.Arg3Pro

Select item 14600350797.

rs1460035079 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:159780961 (GRCh38)
2:160637472 (GRCh37)
Canonical SPDI:: NC_000002.12:159780960:A:C
Gene:: CD302 (Varview), LY75-CD302 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.159780961A>C, NC_000002.11:g.160637472A>C, NM_014880.5:c.216T>G, NM_014880.4:c.216T>G, NM_001198764.2:c.105T>G, NM_001198764.1:c.105T>G, NM_001198763.2:c.216T>G, NM_001198763.1:c.216T>G, NM_001198759.1:c.5139T>G, NM_001198760.1:c.4971T>G, NP_055695.2:p.Asn72Lys, NP_001185693.1:p.Asn35Lys, NP_001185692.1:p.Asn72Lys, NP_001185688.1:p.Asn1713Lys, NP_001185689.1:p.Asn1657Lys

Select item 14594580348.

rs1459458034 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:159780100 (GRCh38)
2:160636611 (GRCh37)
Canonical SPDI:: NC_000002.12:159780099:A:G
Gene:: CD302 (Varview), LY75-CD302 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_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_000002.12:g.159780100A>G, NC_000002.11:g.160636611A>G, NM_014880.5:c.374T>C, NM_014880.4:c.374T>C, NM_001198764.2:c.263T>C, NM_001198764.1:c.263T>C, NM_001198759.1:c.5297T>C, NM_001198760.1:c.5129T>C, NP_055695.2:p.Val125Ala, NP_001185693.1:p.Val88Ala, NP_001185688.1:p.Val1766Ala, NP_001185689.1:p.Val1710Ala

Select item 14585029239.

rs1458502923 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:159798180 (GRCh38)
2:160654691 (GRCh37)
Canonical SPDI:: NC_000002.12:159798179:G:C
Gene:: CD302 (Varview), LY75-CD302 (Varview), LOC124906083 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_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_000002.12:g.159798180G>C, NC_000002.11:g.160654691G>C, NM_014880.5:c.19C>G, NM_014880.4:c.19C>G, NM_001198764.2:c.19C>G, NM_001198764.1:c.19C>G, NM_001198763.2:c.19C>G, NM_001198763.1:c.19C>G, NP_055695.2:p.Pro7Ala, NP_001185693.1:p.Pro7Ala, NP_001185692.1:p.Pro7Ala

Select item 145580755210.

rs1455807552 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:159780940 (GRCh38)
2:160637451 (GRCh37)
Canonical SPDI:: NC_000002.12:159780939:C:T
Gene:: CD302 (Varview), LY75-CD302 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000034/9 (TOPMED)
HGVS:: NC_000002.12:g.159780940C>T, NC_000002.11:g.160637451C>T, NM_014880.5:c.237G>A, NM_014880.4:c.237G>A, NM_001198764.2:c.126G>A, NM_001198764.1:c.126G>A, NM_001198763.2:c.237G>A, NM_001198763.1:c.237G>A, NM_001198759.1:c.5160G>A, NM_001198760.1:c.4992G>A

Select item 145478552511.

rs1454785525 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:159780160 (GRCh38)
2:160636671 (GRCh37)
Canonical SPDI:: NC_000002.12:159780159:A:T
Gene:: CD302 (Varview), LY75-CD302 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.159780160A>T, NC_000002.11:g.160636671A>T, NM_014880.5:c.314T>A, NM_014880.4:c.314T>A, NM_001198764.2:c.203T>A, NM_001198764.1:c.203T>A, NM_001198759.1:c.5237T>A, NM_001198760.1:c.5069T>A, NP_055695.2:p.Phe105Tyr, NP_001185693.1:p.Phe68Tyr, NP_001185688.1:p.Phe1746Tyr, NP_001185689.1:p.Phe1690Tyr

Select item 145366129212.

rs1453661292 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:159780090 (GRCh38)
2:160636601 (GRCh37)
Canonical SPDI:: NC_000002.12:159780089:A:G
Gene:: CD302 (Varview), LY75-CD302 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.159780090A>G, NC_000002.11:g.160636601A>G, NM_014880.5:c.384T>C, NM_014880.4:c.384T>C, NM_001198764.2:c.273T>C, NM_001198764.1:c.273T>C, NM_001198759.1:c.5307T>C, NM_001198760.1:c.5139T>C

Select item 145213002213.

rs1452130022 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:159772047 (GRCh38)
2:160628558 (GRCh37)
Canonical SPDI:: NC_000002.12:159772046:T:C
Gene:: CD302 (Varview), LY75-CD302 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.159772047T>C, NC_000002.11:g.160628558T>C, NM_014880.5:c.503A>G, NM_014880.4:c.503A>G, NM_001198764.2:c.392A>G, NM_001198764.1:c.392A>G, NM_001198763.2:c.329A>G, NM_001198763.1:c.329A>G, NM_001198759.1:c.5426A>G, NM_001198760.1:c.5258A>G, NP_055695.2:p.His168Arg, NP_001185693.1:p.His131Arg, NP_001185692.1:p.His110Arg, NP_001185688.1:p.His1809Arg, NP_001185689.1:p.His1753Arg

Select item 145040837514.

rs1450408375 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:159771933 (GRCh38)
2:160628444 (GRCh37)
Canonical SPDI:: NC_000002.12:159771932:G:C
Gene:: CD302 (Varview), LY75-CD302 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.159771933G>C, NC_000002.11:g.160628444G>C, NM_014880.5:c.617C>G, NM_014880.4:c.617C>G, NM_001198764.2:c.506C>G, NM_001198764.1:c.506C>G, NM_001198763.2:c.443C>G, NM_001198763.1:c.443C>G, NM_001198759.1:c.5540C>G, NM_001198760.1:c.5372C>G, NP_055695.2:p.Ser206Ter, NP_001185693.1:p.Ser169Ter, NP_001185692.1:p.Ser148Ter, NP_001185688.1:p.Ser1847Ter, NP_001185689.1:p.Ser1791Ter

Select item 144398016815.

rs1443980168 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:159771904 (GRCh38)
2:160628415 (GRCh37)
Canonical SPDI:: NC_000002.12:159771903:C:T
Gene:: CD302 (Varview), LY75-CD302 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.159771904C>T, NC_000002.11:g.160628415C>T, NM_014880.5:c.646G>A, NM_014880.4:c.646G>A, NM_001198764.2:c.535G>A, NM_001198764.1:c.535G>A, NM_001198763.2:c.472G>A, NM_001198763.1:c.472G>A, NM_001198759.1:c.5569G>A, NM_001198760.1:c.5401G>A, NP_055695.2:p.Asp216Asn, NP_001185693.1:p.Asp179Asn, NP_001185692.1:p.Asp158Asn, NP_001185688.1:p.Asp1857Asn, NP_001185689.1:p.Asp1801Asn

Select item 144276341716.

rs1442763417 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:159780975 (GRCh38)
2:160637486 (GRCh37)
Canonical SPDI:: NC_000002.12:159780974:T:C
Gene:: CD302 (Varview), LY75-CD302 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.159780975T>C, NC_000002.11:g.160637486T>C, NM_014880.5:c.202A>G, NM_014880.4:c.202A>G, NM_001198764.2:c.91A>G, NM_001198764.1:c.91A>G, NM_001198763.2:c.202A>G, NM_001198763.1:c.202A>G, NM_001198759.1:c.5125A>G, NM_001198760.1:c.4957A>G, NP_055695.2:p.Asn68Asp, NP_001185693.1:p.Asn31Asp, NP_001185692.1:p.Asn68Asp, NP_001185688.1:p.Asn1709Asp, NP_001185689.1:p.Asn1653Asp

Select item 144241330517.

rs1442413305 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:159780027 (GRCh38)
2:160636538 (GRCh37)
Canonical SPDI:: NC_000002.12:159780026:T:C
Gene:: CD302 (Varview), LY75-CD302 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.159780027T>C, NC_000002.11:g.160636538T>C, NM_014880.5:c.447A>G, NM_014880.4:c.447A>G, NM_001198764.2:c.336A>G, NM_001198764.1:c.336A>G, NM_001198759.1:c.5370A>G, NM_001198760.1:c.5202A>G

Select item 143932649318.

rs1439326493 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:159772018 (GRCh38)
2:160628529 (GRCh37)
Canonical SPDI:: NC_000002.12:159772017:T:C
Gene:: CD302 (Varview), LY75-CD302 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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.159772018T>C, NC_000002.11:g.160628529T>C, NM_014880.5:c.532A>G, NM_014880.4:c.532A>G, NM_001198764.2:c.421A>G, NM_001198764.1:c.421A>G, NM_001198763.2:c.358A>G, NM_001198763.1:c.358A>G, NM_001198759.1:c.5455A>G, NM_001198760.1:c.5287A>G, NP_055695.2:p.Ser178Gly, NP_001185693.1:p.Ser141Gly, NP_001185692.1:p.Ser120Gly, NP_001185688.1:p.Ser1819Gly, NP_001185689.1:p.Ser1763Gly

Select item 143086423619.

rs1430864236 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:159771890 (GRCh38)
2:160628401 (GRCh37)
Canonical SPDI:: NC_000002.12:159771889:T:C
Gene:: CD302 (Varview), LY75-CD302 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.159771890T>C, NC_000002.11:g.160628401T>C, NM_014880.5:c.660A>G, NM_014880.4:c.660A>G, NM_001198764.2:c.549A>G, NM_001198764.1:c.549A>G, NM_001198763.2:c.486A>G, NM_001198763.1:c.486A>G, NM_001198759.1:c.5583A>G, NM_001198760.1:c.5415A>G

Select item 142959686520.

rs1429596865 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:159780955 (GRCh38)
2:160637466 (GRCh37)
Canonical SPDI:: NC_000002.12:159780954:A:T
Gene:: CD302 (Varview), LY75-CD302 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000002.12:g.159780955A>T, NC_000002.11:g.160637466A>T, NM_014880.5:c.222T>A, NM_014880.4:c.222T>A, NM_001198764.2:c.111T>A, NM_001198764.1:c.111T>A, NM_001198763.2:c.222T>A, NM_001198763.1:c.222T>A, NM_001198759.1:c.5145T>A, NM_001198760.1:c.4977T>A, NP_055695.2:p.Phe74Leu, NP_001185693.1:p.Phe37Leu, NP_001185692.1:p.Phe74Leu, NP_001185688.1:p.Phe1715Leu, NP_001185689.1:p.Phe1659Leu

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