SNP Links for Protein (Select 768002719) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 768

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Select item 14915384761.

rs1491538476 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 19:18435565 (GRCh38)
19:18546376 (GRCh37)
Canonical SPDI:: NC_000019.10:18435565:A:AA
Gene:: ISYNA1 (Varview)
Functional Consequence:: non_coding_transcript_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.18435566dup, NC_000019.9:g.18546376dup, NG_031809.1:g.7736dup, NM_016368.5:c.1251dup, NM_016368.4:c.1251dup, NM_001253389.2:c.867dup, NM_001253389.1:c.867dup, NM_001170938.2:c.1089dup, NM_001170938.1:c.1089dup, NR_045574.2:n.1110dup, NR_045574.1:n.1139dup, NR_045573.2:n.1107dup, NR_045573.1:n.1275dup, XM_011528059.3:c.1455dup, XM_011528059.2:c.1455dup, XM_011528059.1:c.1455dup, NM_001170939.1:c.801dup, NP_057452.1:p.Glu418Ter, NP_001240318.1:p.Glu290Ter, NP_001164409.1:p.Glu364Ter, XP_011526361.1:p.Glu486Ter

Select item 14913416642.

rs1491341664 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 19:18435568 (GRCh38)
19:18546378 (GRCh37)
Canonical SPDI:: NC_000019.10:18435564:CACAC:CAC
Gene:: ISYNA1 (Varview)
Functional Consequence:: non_coding_transcript_variant,stop_gained,inframe_indel,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CAC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.18435566AC[1], NC_000019.9:g.18546376AC[1], NG_031809.1:g.7734TG[1], NM_016368.5:c.1251_1252del, NM_016368.4:c.1251_1252del, NM_001253389.2:c.867_868del, NM_001253389.1:c.867_868del, NM_001170938.2:c.1089_1090del, NM_001170938.1:c.1089_1090del, NR_045574.2:n.1108TG[1], NR_045574.1:n.1137TG[1], NR_045573.2:n.1105TG[1], NR_045573.1:n.1273TG[1], XM_011528059.3:c.1455_1456del, XM_011528059.2:c.1455_1456del, XM_011528059.1:c.1455_1456del, NM_001170939.1:c.801_802del, NP_057452.1:p.Cys417_Glu418delinsTer, NP_001240318.1:p.Cys289_Glu290delinsTer, NP_001164409.1:p.Cys363_Glu364delinsTer, XP_011526361.1:p.Cys485_Glu486delinsTer

Select item 14899694453.

rs1489969445 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:18435098 (GRCh38)
19:18545908 (GRCh37)
Canonical SPDI:: NC_000019.10:18435097:G:A
Gene:: ISYNA1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.18435098G>A, NC_000019.9:g.18545908G>A, NG_031809.1:g.8204C>T, NM_016368.5:c.1492C>T, NM_016368.4:c.1492C>T, NM_001253389.2:c.1108C>T, NM_001253389.1:c.1108C>T, NM_001170938.2:c.1330C>T, NM_001170938.1:c.1330C>T, NR_045574.2:n.1351C>T, NR_045574.1:n.1380C>T, NR_045573.2:n.1348C>T, NR_045573.1:n.1516C>T, XM_011528059.3:c.1696C>T, XM_011528059.2:c.1696C>T, XM_011528059.1:c.1696C>T, NM_001170939.1:c.1042C>T, NP_057452.1:p.Pro498Ser, NP_001240318.1:p.Pro370Ser, NP_001164409.1:p.Pro444Ser, XP_011526361.1:p.Pro566Ser

Select item 14891983874.

rs1489198387 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 19:18435901 (GRCh38)
19:18546712 (GRCh37)
Canonical SPDI:: NC_000019.10:18435901:T:TT
Gene:: ISYNA1 (Varview)
Functional Consequence:: non_coding_transcript_variant,stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.18435902dup, NC_000019.9:g.18546712dup, NG_031809.1:g.7400dup, NM_016368.5:c.995dup, NM_016368.4:c.995dup, NM_001253389.2:c.611dup, NM_001253389.1:c.611dup, NM_001170938.2:c.833dup, NM_001170938.1:c.833dup, NR_045574.2:n.854dup, NR_045574.1:n.883dup, NR_045573.2:n.851dup, NR_045573.1:n.1019dup, XM_011528059.3:c.1199dup, XM_011528059.2:c.1199dup, XM_011528059.1:c.1199dup, NM_001170939.1:c.545dup, NP_057452.1:p.Tyr332Ter, NP_001240318.1:p.Tyr204Ter, NP_001164409.1:p.Tyr278Ter, XP_011526361.1:p.Tyr400Ter

Select item 14882529085.

rs1488252908 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTC>- [Show Flanks]
Chromosome:: 19:18434937 (GRCh38)
19:18545747 (GRCh37)
Canonical SPDI:: NC_000019.10:18434933:CTCCTC:CTC
Gene:: ISYNA1 (Varview), SSBP4 (Varview)
Functional Consequence:: inframe_deletion,non_coding_transcript_variant,downstream_transcript_variant,coding_sequence_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: CTCCTC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.18434934CTC[1], NC_000019.9:g.18545744CTC[1], NG_031809.1:g.8363GAG[1], NM_016368.5:c.1651GAG[1], NM_016368.4:c.1651GAG[1], NM_001253389.2:c.1267GAG[1], NM_001253389.1:c.1267GAG[1], NM_001170938.2:c.1489GAG[1], NM_001170938.1:c.1489GAG[1], NR_045574.2:n.1510GAG[1], NR_045574.1:n.1539GAG[1], NR_045573.2:n.1507GAG[1], NR_045573.1:n.1675GAG[1], XM_011528059.3:c.1855GAG[1], XM_011528059.2:c.1855GAG[1], XM_011528059.1:c.1855GAG[1], NM_001170939.1:c.1201GAG[1], NP_057452.1:p.Glu552del, NP_001240318.1:p.Glu424del, NP_001164409.1:p.Glu498del, XP_011526361.1:p.Glu620del

Select item 14876343236.

rs1487634323 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:18435631 (GRCh38)
19:18546441 (GRCh37)
Canonical SPDI:: NC_000019.10:18435630:G:C
Gene:: ISYNA1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.18435631G>C, NC_000019.9:g.18546441G>C, NG_031809.1:g.7671C>G, NM_016368.5:c.1186C>G, NM_016368.4:c.1186C>G, NM_001253389.2:c.802C>G, NM_001253389.1:c.802C>G, NM_001170938.2:c.1024C>G, NM_001170938.1:c.1024C>G, NR_045574.2:n.1045C>G, NR_045574.1:n.1074C>G, NR_045573.2:n.1042C>G, NR_045573.1:n.1210C>G, XM_011528059.3:c.1390C>G, XM_011528059.2:c.1390C>G, XM_011528059.1:c.1390C>G, NM_001170939.1:c.736C>G, NP_057452.1:p.Leu396Val, NP_001240318.1:p.Leu268Val, NP_001164409.1:p.Leu342Val, XP_011526361.1:p.Leu464Val

Select item 14875664837.

rs1487566483 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:18435360 (GRCh38)
19:18546170 (GRCh37)
Canonical SPDI:: NC_000019.10:18435359:G:A
Gene:: ISYNA1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.18435360G>A, NC_000019.9:g.18546170G>A, NG_031809.1:g.7942C>T, NM_016368.5:c.1378C>T, NM_016368.4:c.1378C>T, NM_001253389.2:c.994C>T, NM_001253389.1:c.994C>T, NM_001170938.2:c.1216C>T, NM_001170938.1:c.1216C>T, NR_045574.2:n.1237C>T, NR_045574.1:n.1266C>T, NR_045573.2:n.1234C>T, NR_045573.1:n.1402C>T, XM_011528059.3:c.1582C>T, XM_011528059.2:c.1582C>T, XM_011528059.1:c.1582C>T, NM_001170939.1:c.928C>T, NP_057452.1:p.Leu460Phe, NP_001240318.1:p.Leu332Phe, NP_001164409.1:p.Leu406Phe, XP_011526361.1:p.Leu528Phe

Select item 14862951528.

rs1486295152 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:18436558 (GRCh38)
19:18547368 (GRCh37)
Canonical SPDI:: NC_000019.10:18436557:G:A
Gene:: ISYNA1 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.18436558G>A, NC_000019.9:g.18547368G>A, NG_031809.1:g.6744C>T, XM_011528059.3:c.735C>T, XM_011528059.2:c.735C>T, XM_011528059.1:c.735C>T

Select item 14861534039.

rs1486153403 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:18435863 (GRCh38)
19:18546673 (GRCh37)
Canonical SPDI:: NC_000019.10:18435862:G:A
Gene:: ISYNA1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.18435863G>A, NC_000019.9:g.18546673G>A, NG_031809.1:g.7439C>T, NM_016368.5:c.1034C>T, NM_016368.4:c.1034C>T, NM_001253389.2:c.650C>T, NM_001253389.1:c.650C>T, NM_001170938.2:c.872C>T, NM_001170938.1:c.872C>T, NR_045574.2:n.893C>T, NR_045574.1:n.922C>T, NR_045573.2:n.890C>T, NR_045573.1:n.1058C>T, XM_011528059.3:c.1238C>T, XM_011528059.2:c.1238C>T, XM_011528059.1:c.1238C>T, NM_001170939.1:c.584C>T, NP_057452.1:p.Ala345Val, NP_001240318.1:p.Ala217Val, NP_001164409.1:p.Ala291Val, XP_011526361.1:p.Ala413Val

Select item 148606507810.

rs1486065078 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:18436419 (GRCh38)
19:18547229 (GRCh37)
Canonical SPDI:: NC_000019.10:18436418:T:C
Gene:: ISYNA1 (Varview)
Functional Consequence:: non_coding_transcript_variant,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)
C=0.000071/1 (TOMMO)
HGVS:: NC_000019.10:g.18436419T>C, NC_000019.9:g.18547229T>C, NG_031809.1:g.6883A>G, NM_016368.5:c.670A>G, NM_016368.4:c.670A>G, NM_001253389.2:c.286A>G, NM_001253389.1:c.286A>G, NM_001170938.2:c.508A>G, NM_001170938.1:c.508A>G, NR_045574.2:n.529A>G, NR_045574.1:n.558A>G, NR_045573.2:n.526A>G, NR_045573.1:n.694A>G, XM_011528059.3:c.874A>G, XM_011528059.2:c.874A>G, XM_011528059.1:c.874A>G, NM_001170939.1:c.220A>G, NP_057452.1:p.Ile224Val, NP_001240318.1:p.Ile96Val, NP_001164409.1:p.Ile170Val, XP_011526361.1:p.Ile292Val

Select item 148516529711.

rs1485165297 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:18437024 (GRCh38)
19:18547834 (GRCh37)
Canonical SPDI:: NC_000019.10:18437023:G:A
Gene:: ISYNA1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
HGVS:: NC_000019.10:g.18437024G>A, NC_000019.9:g.18547834G>A, NG_031809.1:g.6278C>T, NM_016368.5:c.364C>T, NM_016368.4:c.364C>T, NM_001253389.2:c.-21C>T, NM_001253389.1:c.-21C>T, NM_001170938.2:c.202C>T, NM_001170938.1:c.202C>T, NR_045573.2:n.414C>T, NR_045573.1:n.582C>T, XM_011528059.3:c.364C>T, XM_011528059.2:c.364C>T, XM_011528059.1:c.364C>T, NP_057452.1:p.Pro122Ser, NP_001164409.1:p.Pro68Ser, XP_011526361.1:p.Pro122Ser

Select item 148515657012.

rs1485156570 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:18435083 (GRCh38)
19:18545893 (GRCh37)
Canonical SPDI:: NC_000019.10:18435082:G:A,NC_000019.10:18435082:G:C
Gene:: ISYNA1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.18435083G>A, NC_000019.10:g.18435083G>C, NC_000019.9:g.18545893G>A, NC_000019.9:g.18545893G>C, NG_031809.1:g.8219C>T, NG_031809.1:g.8219C>G, NM_016368.5:c.1507C>T, NM_016368.5:c.1507C>G, NM_016368.4:c.1507C>T, NM_016368.4:c.1507C>G, NM_001253389.2:c.1123C>T, NM_001253389.2:c.1123C>G, NM_001253389.1:c.1123C>T, NM_001253389.1:c.1123C>G, NM_001170938.2:c.1345C>T, NM_001170938.2:c.1345C>G, NM_001170938.1:c.1345C>T, NM_001170938.1:c.1345C>G, NR_045574.2:n.1366C>T, NR_045574.2:n.1366C>G, NR_045574.1:n.1395C>T, NR_045574.1:n.1395C>G, NR_045573.2:n.1363C>T, NR_045573.2:n.1363C>G, NR_045573.1:n.1531C>T, NR_045573.1:n.1531C>G, XM_011528059.3:c.1711C>T, XM_011528059.3:c.1711C>G, XM_011528059.2:c.1711C>T, XM_011528059.2:c.1711C>G, XM_011528059.1:c.1711C>T, XM_011528059.1:c.1711C>G, NM_001170939.1:c.1057C>T, NM_001170939.1:c.1057C>G, NP_057452.1:p.Leu503Phe, NP_057452.1:p.Leu503Val, NP_001240318.1:p.Leu375Phe, NP_001240318.1:p.Leu375Val, NP_001164409.1:p.Leu449Phe, NP_001164409.1:p.Leu449Val, XP_011526361.1:p.Leu571Phe, XP_011526361.1:p.Leu571Val

Select item 148465132913.

rs1484651329 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:18436834 (GRCh38)
19:18547644 (GRCh37)
Canonical SPDI:: NC_000019.10:18436833:G:A,NC_000019.10:18436833:G:C
Gene:: ISYNA1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.18436834G>A, NC_000019.10:g.18436834G>C, NC_000019.9:g.18547644G>A, NC_000019.9:g.18547644G>C, NG_031809.1:g.6468C>T, NG_031809.1:g.6468C>G, NM_016368.5:c.459C>T, NM_016368.5:c.459C>G, NM_016368.4:c.459C>T, NM_016368.4:c.459C>G, NM_001253389.2:c.75C>T, NM_001253389.2:c.75C>G, NM_001253389.1:c.75C>T, NM_001253389.1:c.75C>G, NM_001170938.2:c.297C>T, NM_001170938.2:c.297C>G, NM_001170938.1:c.297C>T, NM_001170938.1:c.297C>G, NR_045574.2:n.318C>T, NR_045574.2:n.318C>G, NR_045574.1:n.347C>T, NR_045574.1:n.347C>G, XM_011528059.3:c.459C>T, XM_011528059.3:c.459C>G, XM_011528059.2:c.459C>T, XM_011528059.2:c.459C>G, XM_011528059.1:c.459C>T, XM_011528059.1:c.459C>G, NM_001170939.1:c.9C>T, NM_001170939.1:c.9C>G

Select item 148432815814.

rs1484328158 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:18436107 (GRCh38)
19:18546917 (GRCh37)
Canonical SPDI:: NC_000019.10:18436106:G:A
Gene:: ISYNA1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.18436107G>A, NC_000019.9:g.18546917G>A, NG_031809.1:g.7195C>T, NM_016368.5:c.900C>T, NM_016368.4:c.900C>T, NM_001253389.2:c.516C>T, NM_001253389.1:c.516C>T, NM_001170938.2:c.738C>T, NM_001170938.1:c.738C>T, NR_045574.2:n.759C>T, NR_045574.1:n.788C>T, NR_045573.2:n.756C>T, NR_045573.1:n.924C>T, XM_011528059.3:c.1104C>T, XM_011528059.2:c.1104C>T, XM_011528059.1:c.1104C>T, NM_001170939.1:c.450C>T

Select item 148381726415.

rs1483817264 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:18436725 (GRCh38)
19:18547535 (GRCh37)
Canonical SPDI:: NC_000019.10:18436724:C:T
Gene:: ISYNA1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,intron_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_000019.10:g.18436725C>T, NC_000019.9:g.18547535C>T, NG_031809.1:g.6577G>A, NM_016368.5:c.568G>A, NM_016368.4:c.568G>A, NM_001253389.2:c.184G>A, NM_001253389.1:c.184G>A, NM_001170938.2:c.406G>A, NM_001170938.1:c.406G>A, NR_045574.2:n.427G>A, NR_045574.1:n.456G>A, XM_011528059.3:c.568G>A, XM_011528059.2:c.568G>A, XM_011528059.1:c.568G>A, NM_001170939.1:c.118G>A, NP_057452.1:p.Ala190Thr, NP_001240318.1:p.Ala62Thr, NP_001164409.1:p.Ala136Thr, XP_011526361.1:p.Ala190Thr

Select item 148327370716.

rs1483273707 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:18435370 (GRCh38)
19:18546180 (GRCh37)
Canonical SPDI:: NC_000019.10:18435369:C:T
Gene:: ISYNA1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.18435370C>T, NC_000019.9:g.18546180C>T, NG_031809.1:g.7932G>A, NM_016368.5:c.1368G>A, NM_016368.4:c.1368G>A, NM_001253389.2:c.984G>A, NM_001253389.1:c.984G>A, NM_001170938.2:c.1206G>A, NM_001170938.1:c.1206G>A, NR_045574.2:n.1227G>A, NR_045574.1:n.1256G>A, NR_045573.2:n.1224G>A, NR_045573.1:n.1392G>A, XM_011528059.3:c.1572G>A, XM_011528059.2:c.1572G>A, XM_011528059.1:c.1572G>A, NM_001170939.1:c.918G>A

Select item 148263655017.

rs1482636550 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:18435814 (GRCh38)
19:18546624 (GRCh37)
Canonical SPDI:: NC_000019.10:18435813:G:A
Gene:: ISYNA1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.18435814G>A, NC_000019.9:g.18546624G>A, NG_031809.1:g.7488C>T, NM_016368.5:c.1083C>T, NM_016368.4:c.1083C>T, NM_001253389.2:c.699C>T, NM_001253389.1:c.699C>T, NM_001170938.2:c.921C>T, NM_001170938.1:c.921C>T, NR_045574.2:n.942C>T, NR_045574.1:n.971C>T, NR_045573.2:n.939C>T, NR_045573.1:n.1107C>T, XM_011528059.3:c.1287C>T, XM_011528059.2:c.1287C>T, XM_011528059.1:c.1287C>T, NM_001170939.1:c.633C>T

Select item 148214394518.

rs1482143945 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:18435758 (GRCh38)
19:18546568 (GRCh37)
Canonical SPDI:: NC_000019.10:18435757:C:G
Gene:: ISYNA1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.18435758C>G, NC_000019.9:g.18546568C>G, NG_031809.1:g.7544G>C, NM_016368.5:c.1139G>C, NM_016368.4:c.1139G>C, NM_001253389.2:c.755G>C, NM_001253389.1:c.755G>C, NM_001170938.2:c.977G>C, NM_001170938.1:c.977G>C, NR_045574.2:n.998G>C, NR_045574.1:n.1027G>C, NR_045573.2:n.995G>C, NR_045573.1:n.1163G>C, XM_011528059.3:c.1343G>C, XM_011528059.2:c.1343G>C, XM_011528059.1:c.1343G>C, NM_001170939.1:c.689G>C, NP_057452.1:p.Cys380Ser, NP_001240318.1:p.Cys252Ser, NP_001164409.1:p.Cys326Ser, XP_011526361.1:p.Cys448Ser

Select item 148026987219.

rs1480269872 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:18437920 (GRCh38)
19:18548730 (GRCh37)
Canonical SPDI:: NC_000019.10:18437919:G:A,NC_000019.10:18437919:G:C
Gene:: ISYNA1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.18437920G>A, NC_000019.10:g.18437920G>C, NC_000019.9:g.18548730G>A, NC_000019.9:g.18548730G>C, NG_031809.1:g.5382C>T, NG_031809.1:g.5382C>G, NM_016368.5:c.60C>T, NM_016368.5:c.60C>G, NM_016368.4:c.60C>T, NM_016368.4:c.60C>G, NM_001170938.2:c.60C>T, NM_001170938.2:c.60C>G, NM_001170938.1:c.60C>T, NM_001170938.1:c.60C>G, NR_045574.2:n.214C>T, NR_045574.2:n.214C>G, NR_045574.1:n.243C>T, NR_045574.1:n.243C>G, NR_045573.2:n.110C>T, NR_045573.2:n.110C>G, NR_045573.1:n.278C>T, NR_045573.1:n.278C>G, XM_011528059.3:c.60C>T, XM_011528059.3:c.60C>G, XM_011528059.2:c.60C>T, XM_011528059.2:c.60C>G, XM_011528059.1:c.60C>T, XM_011528059.1:c.60C>G, NM_001170939.1:c.-96C>T, NM_001170939.1:c.-96C>G

Select item 148018602720.

rs1480186027 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:18435313 (GRCh38)
19:18546123 (GRCh37)
Canonical SPDI:: NC_000019.10:18435312:C:T
Gene:: ISYNA1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.18435313C>T, NC_000019.9:g.18546123C>T, NG_031809.1:g.7989G>A, NM_016368.5:c.1425G>A, NM_016368.4:c.1425G>A, NM_001253389.2:c.1041G>A, NM_001253389.1:c.1041G>A, NM_001170938.2:c.1263G>A, NM_001170938.1:c.1263G>A, NR_045574.2:n.1284G>A, NR_045574.1:n.1313G>A, NR_045573.2:n.1281G>A, NR_045573.1:n.1449G>A, XM_011528059.3:c.1629G>A, XM_011528059.2:c.1629G>A, XM_011528059.1:c.1629G>A, NM_001170939.1:c.975G>A

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