SNP Links for Protein (Select 21314632) - SNP

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:64989737 (GRCh38)
2:65216871 (GRCh37)
Canonical SPDI:: NC_000002.12:64989736:G:C
Gene:: SLC1A4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.64989737G>C, NC_000002.11:g.65216871G>C, NG_053002.1:g.6293G>C, NM_003038.5:c.94G>C, NM_003038.4:c.94G>C, NP_003029.2:p.Ala32Pro

Select item 14821510176.

rs1482151017 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:65021141 (GRCh38)
2:65248275 (GRCh37)
Canonical SPDI:: NC_000002.12:65021140:C:A
Gene:: SLC1A4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.65021141C>A, NC_000002.11:g.65248275C>A, NG_053002.1:g.37697C>A, NM_003038.5:c.1594C>A, NM_003038.4:c.1594C>A, NM_001348406.2:c.934C>A, NM_001348406.1:c.934C>A, NM_001348407.2:c.934C>A, NM_001348407.1:c.934C>A, NM_001193493.2:c.700C>A, NM_001193493.1:c.700C>A, NM_001135581.1:c.934C>A, NP_003029.2:p.Leu532Met, NP_001335335.1:p.Leu312Met, NP_001335336.1:p.Leu312Met, NP_001180422.1:p.Leu234Met

Select item 14821112707.

rs1482111270 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:64989813 (GRCh38)
2:65216947 (GRCh37)
Canonical SPDI:: NC_000002.12:64989812:G:T
Gene:: SLC1A4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Clinical significance:: uncertain-significance
HGVS:: NC_000002.12:g.64989813G>T, NC_000002.11:g.65216947G>T, NG_053002.1:g.6369G>T, NM_003038.5:c.170G>T, NM_003038.4:c.170G>T, NP_003029.2:p.Gly57Val

Select item 14805816198.

rs1480581619 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:65001467 (GRCh38)
2:65228601 (GRCh37)
Canonical SPDI:: NC_000002.12:65001466:C:A
Gene:: SLC1A4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.65001467C>A, NC_000002.11:g.65228601C>A, NG_053002.1:g.18023C>A, NM_003038.5:c.547C>A, NM_003038.4:c.547C>A, NM_001348406.2:c.-114C>A, NM_001348406.1:c.-114C>A, NM_001348407.2:c.-114C>A, NM_001348407.1:c.-114C>A, NM_001193493.2:c.-114C>A, NM_001193493.1:c.-114C>A, NM_001135581.1:c.-114C>A, NP_003029.2:p.Leu183Ile

Select item 14786270039.

rs1478627003 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:65016569 (GRCh38)
2:65243703 (GRCh37)
Canonical SPDI:: NC_000002.12:65016568:A:G
Gene:: SLC1A4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.65016569A>G, NC_000002.11:g.65243703A>G, NG_053002.1:g.33125A>G, NM_003038.5:c.930A>G, NM_003038.4:c.930A>G, NM_001348406.2:c.270A>G, NM_001348406.1:c.270A>G, NM_001348407.2:c.270A>G, NM_001348407.1:c.270A>G, NM_001135581.1:c.270A>G

Select item 147807410310.

rs1478074103 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:65021136 (GRCh38)
2:65248270 (GRCh37)
Canonical SPDI:: NC_000002.12:65021135:C:T
Gene:: SLC1A4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.65021136C>T, NC_000002.11:g.65248270C>T, NG_053002.1:g.37692C>T, NM_003038.5:c.1589C>T, NM_003038.4:c.1589C>T, NM_001348406.2:c.929C>T, NM_001348406.1:c.929C>T, NM_001348407.2:c.929C>T, NM_001348407.1:c.929C>T, NM_001193493.2:c.695C>T, NM_001193493.1:c.695C>T, NM_001135581.1:c.929C>T, NP_003029.2:p.Ser530Leu, NP_001335335.1:p.Ser310Leu, NP_001335336.1:p.Ser310Leu, NP_001180422.1:p.Ser232Leu

Select item 147807378011.

rs1478073780 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:65016589 (GRCh38)
2:65243723 (GRCh37)
Canonical SPDI:: NC_000002.12:65016588:A:G
Gene:: SLC1A4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.65016589A>G, NC_000002.11:g.65243723A>G, NG_053002.1:g.33145A>G, NM_003038.5:c.950A>G, NM_003038.4:c.950A>G, NM_001348406.2:c.290A>G, NM_001348406.1:c.290A>G, NM_001348407.2:c.290A>G, NM_001348407.1:c.290A>G, NM_001135581.1:c.290A>G, NP_003029.2:p.Tyr317Cys, NP_001335335.1:p.Tyr97Cys, NP_001335336.1:p.Tyr97Cys

Select item 147530851712.

rs1475308517 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:65016469 (GRCh38)
2:65243603 (GRCh37)
Canonical SPDI:: NC_000002.12:65016468:T:C
Gene:: SLC1A4 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.65016469T>C, NC_000002.11:g.65243603T>C, NG_053002.1:g.33025T>C, NM_003038.5:c.830T>C, NM_003038.4:c.830T>C, NM_001348406.2:c.170T>C, NM_001348406.1:c.170T>C, NM_001348407.2:c.170T>C, NM_001348407.1:c.170T>C, NM_001135581.1:c.170T>C, NP_003029.2:p.Val277Ala, NP_001335335.1:p.Val57Ala, NP_001335336.1:p.Val57Ala

Select item 147525553013.

rs1475255530 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:64990104 (GRCh38)
2:65217238 (GRCh37)
Canonical SPDI:: NC_000002.12:64990103:G:C
Gene:: SLC1A4 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.64990104G>C, NC_000002.11:g.65217238G>C, NG_053002.1:g.6660G>C, NM_003038.5:c.461G>C, NM_003038.4:c.461G>C, NP_003029.2:p.Gly154Ala

Select item 147333081614.

rs1473330816 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:65018571 (GRCh38)
2:65245705 (GRCh37)
Canonical SPDI:: NC_000002.12:65018570:G:A
Gene:: SLC1A4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000026/7 (TOPMED)
HGVS:: NC_000002.12:g.65018571G>A, NC_000002.11:g.65245705G>A, NG_053002.1:g.35127G>A, NM_003038.5:c.1256G>A, NM_003038.4:c.1256G>A, NM_001348406.2:c.596G>A, NM_001348406.1:c.596G>A, NM_001348407.2:c.596G>A, NM_001348407.1:c.596G>A, NM_001193493.2:c.362G>A, NM_001193493.1:c.362G>A, NM_001135581.1:c.596G>A, NP_003029.2:p.Gly419Glu, NP_001335335.1:p.Gly199Glu, NP_001335336.1:p.Gly199Glu, NP_001180422.1:p.Gly121Glu

Select item 147175826115.

rs1471758261 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:64989970 (GRCh38)
2:65217104 (GRCh37)
Canonical SPDI:: NC_000002.12:64989969:C:T
Gene:: SLC1A4 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000005/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.64989970C>T, NC_000002.11:g.65217104C>T, NG_053002.1:g.6526C>T, NM_003038.5:c.327C>T, NM_003038.4:c.327C>T

Select item 146960763316.

rs1469607633 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:65016664 (GRCh38)
2:65243798 (GRCh37)
Canonical SPDI:: NC_000002.12:65016663:C:T
Gene:: SLC1A4 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.65016664C>T, NC_000002.11:g.65243798C>T, NG_053002.1:g.33220C>T, NM_003038.5:c.1025C>T, NM_003038.4:c.1025C>T, NM_001348406.2:c.365C>T, NM_001348406.1:c.365C>T, NM_001348407.2:c.365C>T, NM_001348407.1:c.365C>T, NM_001135581.1:c.365C>T, NP_003029.2:p.Thr342Ile, NP_001335335.1:p.Thr122Ile, NP_001335336.1:p.Thr122Ile

Select item 146801726917.

rs1468017269 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:65001478 (GRCh38)
2:65228612 (GRCh37)
Canonical SPDI:: NC_000002.12:65001477:A:G
Gene:: SLC1A4 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.65001478A>G, NC_000002.11:g.65228612A>G, NG_053002.1:g.18034A>G, NM_003038.5:c.558A>G, NM_003038.4:c.558A>G, NM_001348406.2:c.-103A>G, NM_001348406.1:c.-103A>G, NM_001348407.2:c.-103A>G, NM_001348407.1:c.-103A>G, NM_001193493.2:c.-103A>G, NM_001193493.1:c.-103A>G, NM_001135581.1:c.-103A>G

Select item 146576428018.

rs1465764280 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:64989836 (GRCh38)
2:65216970 (GRCh37)
Canonical SPDI:: NC_000002.12:64989835:C:T
Gene:: SLC1A4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.64989836C>T, NC_000002.11:g.65216970C>T, NG_053002.1:g.6392C>T, NM_003038.5:c.193C>T, NM_003038.4:c.193C>T, NP_003029.2:p.Leu65Phe

Select item 146463193319.

rs1464631933 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 2:64989694 (GRCh38)
2:65216829 (GRCh37)
Canonical SPDI:: NC_000002.12:64989694:CC:CCC
Gene:: SLC1A4 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CCC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.64989696dup, NC_000002.11:g.65216830dup, NG_053002.1:g.6252dup, NM_003038.5:c.53dup, NM_003038.4:c.53dup, NP_003029.2:p.Ala19fs

Select item 146233398420.

rs1462333984 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:64989784 (GRCh38)
2:65216918 (GRCh37)
Canonical SPDI:: NC_000002.12:64989783:C:T
Gene:: SLC1A4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.00002/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.64989784C>T, NC_000002.11:g.65216918C>T, NG_053002.1:g.6340C>T, NM_003038.5:c.141C>T, NM_003038.4:c.141C>T

<< First< Prev

Page of 27

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 538

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity