SNP Links for Protein (Select 122937281) - SNP

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:84036814 (GRCh38)
16:84070419 (GRCh37)
Canonical SPDI:: NC_000016.10:84036813:G:A
Gene:: SLC38A8 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.84036814G>A, NC_000016.9:g.84070419G>A, NG_034136.1:g.10344C>T, NM_001080442.3:c.276C>T, NM_001080442.2:c.276C>T, NM_001080442.1:c.276C>T, XM_017022946.1:c.276C>T

Select item 146867019110.

rs1468670191 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:84042106 (GRCh38)
16:84075711 (GRCh37)
Canonical SPDI:: NC_000016.10:84042105:C:G
Gene:: SLC38A8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.84042106C>G, NC_000016.9:g.84075711C>G, NG_034136.1:g.5052G>C, NM_001080442.3:c.52G>C, NM_001080442.2:c.52G>C, NM_001080442.1:c.52G>C, XM_017022946.1:c.52G>C, NP_001073911.1:p.Ala18Pro, XP_016878435.1:p.Ala18Pro

Select item 146358287811.

rs1463582878 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:84022805 (GRCh38)
16:84056410 (GRCh37)
Canonical SPDI:: NC_000016.10:84022804:G:C
Gene:: SLC38A8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.84022805G>C, NC_000016.9:g.84056410G>C, NG_034136.1:g.24353C>G, NM_001080442.3:c.775C>G, NM_001080442.2:c.775C>G, NM_001080442.1:c.775C>G, XM_017022946.1:c.775C>G, NP_001073911.1:p.Leu259Val, XP_016878435.1:p.Leu259Val

Select item 145993382412.

rs1459933824 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:84009807 (GRCh38)
16:84043412 (GRCh37)
Canonical SPDI:: NC_000016.10:84009806:C:T
Gene:: SLC38A8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.00005/1 (ALFA)
HGVS:: NC_000016.10:g.84009807C>T, NC_000016.9:g.84043412C>T, NG_034136.1:g.37351G>A, NM_001080442.3:c.1285G>A, NM_001080442.2:c.1285G>A, NM_001080442.1:c.1285G>A, XM_017022946.1:c.1285G>A, NP_001073911.1:p.Ala429Thr, XP_016878435.1:p.Ala429Thr

Select item 145581304913.

rs1455813049 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:84022840 (GRCh38)
16:84056445 (GRCh37)
Canonical SPDI:: NC_000016.10:84022839:A:G
Gene:: SLC38A8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000094/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.84022840A>G, NC_000016.9:g.84056445A>G, NG_034136.1:g.24318T>C, NM_001080442.3:c.740T>C, NM_001080442.2:c.740T>C, NM_001080442.1:c.740T>C, XM_017022946.1:c.740T>C, NP_001073911.1:p.Leu247Pro, XP_016878435.1:p.Leu247Pro

Select item 145396780614.

rs1453967806 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 16:84017261 (GRCh38)
16:84050866 (GRCh37)
Canonical SPDI:: NC_000016.10:84017260:T:A,NC_000016.10:84017260:T:C,NC_000016.10:84017260:T:G
Gene:: SLC38A8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.84017261T>A, NC_000016.10:g.84017261T>C, NC_000016.10:g.84017261T>G, NC_000016.9:g.84050866T>A, NC_000016.9:g.84050866T>C, NC_000016.9:g.84050866T>G, NG_034136.1:g.29897A>T, NG_034136.1:g.29897A>G, NG_034136.1:g.29897A>C, NM_001080442.3:c.832A>T, NM_001080442.3:c.832A>G, NM_001080442.3:c.832A>C, NM_001080442.2:c.832A>T, NM_001080442.2:c.832A>G, NM_001080442.2:c.832A>C, NM_001080442.1:c.832A>T, NM_001080442.1:c.832A>G, NM_001080442.1:c.832A>C, XM_017022946.1:c.832A>T, XM_017022946.1:c.832A>G, XM_017022946.1:c.832A>C, NP_001073911.1:p.Thr278Ser, NP_001073911.1:p.Thr278Ala, NP_001073911.1:p.Thr278Pro, XP_016878435.1:p.Thr278Ser, XP_016878435.1:p.Thr278Ala, XP_016878435.1:p.Thr278Pro

Select item 145305621515.

rs1453056215 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:84016550 (GRCh38)
16:84050155 (GRCh37)
Canonical SPDI:: NC_000016.10:84016549:G:A,NC_000016.10:84016549:G:T
Gene:: SLC38A8 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.84016550G>A, NC_000016.10:g.84016550G>T, NC_000016.9:g.84050155G>A, NC_000016.9:g.84050155G>T, NG_034136.1:g.30608C>T, NG_034136.1:g.30608C>A, NM_001080442.3:c.1131C>T, NM_001080442.3:c.1131C>A, NM_001080442.2:c.1131C>T, NM_001080442.2:c.1131C>A, NM_001080442.1:c.1131C>T, NM_001080442.1:c.1131C>A, XM_017022946.1:c.1131C>T, XM_017022946.1:c.1131C>A

Select item 145284940716.

rs1452849407 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:84033383 (GRCh38)
16:84066988 (GRCh37)
Canonical SPDI:: NC_000016.10:84033382:G:C
Gene:: SLC38A8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.84033383G>C, NC_000016.9:g.84066988G>C, NG_034136.1:g.13775C>G, NM_001080442.3:c.475C>G, NM_001080442.2:c.475C>G, NM_001080442.1:c.475C>G, XM_017022946.1:c.475C>G, NP_001073911.1:p.Leu159Val, XP_016878435.1:p.Leu159Val

Select item 145257170017.

rs1452571700 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:84016645 (GRCh38)
16:84050250 (GRCh37)
Canonical SPDI:: NC_000016.10:84016644:C:A,NC_000016.10:84016644:C:T
Gene:: SLC38A8 (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)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.84016645C>A, NC_000016.10:g.84016645C>T, NC_000016.9:g.84050250C>A, NC_000016.9:g.84050250C>T, NG_034136.1:g.30513G>T, NG_034136.1:g.30513G>A, NM_001080442.3:c.1036G>T, NM_001080442.3:c.1036G>A, NM_001080442.2:c.1036G>T, NM_001080442.2:c.1036G>A, NM_001080442.1:c.1036G>T, NM_001080442.1:c.1036G>A, XM_017022946.1:c.1036G>T, XM_017022946.1:c.1036G>A, NP_001073911.1:p.Val346Phe, NP_001073911.1:p.Val346Ile, XP_016878435.1:p.Val346Phe, XP_016878435.1:p.Val346Ile

Select item 145104922518.

rs1451049225 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 16:84031868 (GRCh38)
16:84065474 (GRCh37)
Canonical SPDI:: NC_000016.10:84031868:C:CC
Gene:: SLC38A8 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.84031869dup, NC_000016.9:g.84065474dup, NG_034136.1:g.15289dup, NM_001080442.3:c.630dup, NM_001080442.2:c.630dup, NM_001080442.1:c.630dup, XM_017022946.1:c.630dup, NP_001073911.1:p.Ser211fs, XP_016878435.1:p.Ser211fs

Select item 145031408619.

rs1450314086 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:84033462 (GRCh38)
16:84067067 (GRCh37)
Canonical SPDI:: NC_000016.10:84033461:G:A
Gene:: SLC38A8 (Varview)
Functional Consequence:: synonymous_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)
A=0.000021/3 (GnomAD)
HGVS:: NC_000016.10:g.84033462G>A, NC_000016.9:g.84067067G>A, NG_034136.1:g.13696C>T, NM_001080442.3:c.396C>T, NM_001080442.2:c.396C>T, NM_001080442.1:c.396C>T, XM_017022946.1:c.396C>T

Select item 144490955220.

rs1444909552 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:84036851 (GRCh38)
16:84070456 (GRCh37)
Canonical SPDI:: NC_000016.10:84036850:G:A
Gene:: SLC38A8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.84036851G>A, NC_000016.9:g.84070456G>A, NG_034136.1:g.10307C>T, NM_001080442.3:c.239C>T, NM_001080442.2:c.239C>T, NM_001080442.1:c.239C>T, XM_017022946.1:c.239C>T, NP_001073911.1:p.Ala80Val, XP_016878435.1:p.Ala80Val

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