SNP Links for Protein (Select 1191017690) - SNP

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:164954656 (GRCh38)
2:165811166 (GRCh37)
Canonical SPDI:: NC_000002.12:164954655:G:A
Gene:: SLC38A11 (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000014/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.164954656G>A, NC_000002.11:g.165811166G>A, NM_001351538.2:c.-131C>T, NM_001351538.1:c.-131C>T, NM_001351537.2:c.129C>T, NM_001351537.1:c.129C>T

Select item 14793504936.

rs1479350493 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:164915929 (GRCh38)
2:165772439 (GRCh37)
Canonical SPDI:: NC_000002.12:164915928:A:G
Gene:: SLC38A11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.164915929A>G, NC_000002.11:g.165772439A>G, NM_173512.3:c.428T>C, NM_173512.2:c.428T>C, NM_001351538.2:c.494T>C, NM_001351538.1:c.494T>C, NM_001351537.2:c.662T>C, NM_001351537.1:c.662T>C, NM_001199148.2:c.494T>C, NM_001199148.1:c.494T>C, NM_001351540.2:c.77T>C, NM_001351540.1:c.77T>C, NM_001351539.2:c.296T>C, NM_001351539.1:c.296T>C, NM_001394061.1:c.296T>C, NP_775783.1:p.Ile143Thr, NP_001338467.1:p.Ile165Thr, NP_001338466.1:p.Ile221Thr, NP_001186077.1:p.Ile165Thr, NP_001338469.1:p.Ile26Thr, NP_001338468.1:p.Ile99Thr

Select item 14759144377.

rs1475914437 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:164939547 (GRCh38)
2:165796057 (GRCh37)
Canonical SPDI:: NC_000002.12:164939546:T:G
Gene:: SLC38A11 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.164939547T>G, NC_000002.11:g.165796057T>G, NM_173512.3:c.206A>C, NM_173512.2:c.206A>C, NM_001351538.2:c.272A>C, NM_001351538.1:c.272A>C, NM_001351537.2:c.440A>C, NM_001351537.1:c.440A>C, NM_001199148.2:c.272A>C, NM_001199148.1:c.272A>C, NM_001351540.2:c.-328A>C, NM_001351540.1:c.-328A>C, NM_001351539.2:c.74A>C, NM_001351539.1:c.74A>C, NM_001394061.1:c.74A>C, NP_775783.1:p.Glu69Ala, NP_001338467.1:p.Glu91Ala, NP_001338466.1:p.Glu147Ala, NP_001186077.1:p.Glu91Ala, NP_001338468.1:p.Glu25Ala

Select item 14716744058.

rs1471674405 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 2:164915965 (GRCh38)
2:165772476 (GRCh37)
Canonical SPDI:: NC_000002.12:164915965:TTTTT:TTTTTT
Gene:: SLC38A11 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: TTTTTT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.164915970dup, NC_000002.11:g.165772480dup, NM_173512.3:c.391dup, NM_173512.2:c.391dup, NM_001351538.2:c.457dup, NM_001351538.1:c.457dup, NM_001351537.2:c.625dup, NM_001351537.1:c.625dup, NM_001199148.2:c.457dup, NM_001199148.1:c.457dup, NM_001351540.2:c.40dup, NM_001351540.1:c.40dup, NM_001351539.2:c.259dup, NM_001351539.1:c.259dup, NM_001394061.1:c.259dup, NP_775783.1:p.Thr131fs, NP_001338467.1:p.Thr153fs, NP_001338466.1:p.Thr209fs, NP_001186077.1:p.Thr153fs, NP_001338469.1:p.Thr14fs, NP_001338468.1:p.Thr87fs

Select item 14703059819.

rs1470305981 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:164945596 (GRCh38)
2:165802106 (GRCh37)
Canonical SPDI:: NC_000002.12:164945595:T:G
Gene:: SLC38A11 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.164945596T>G, NC_000002.11:g.165802106T>G, NM_173512.3:c.193A>C, NM_173512.2:c.193A>C, NM_001351538.2:c.193A>C, NM_001351538.1:c.193A>C, NM_001351537.2:c.361A>C, NM_001351537.1:c.361A>C, NM_001199148.2:c.193A>C, NM_001199148.1:c.193A>C, NM_001394061.1:c.-6A>C, NP_775783.1:p.Ile65Leu, NP_001338467.1:p.Ile65Leu, NP_001338466.1:p.Ile121Leu, NP_001186077.1:p.Ile65Leu

Select item 146953038810.

rs1469530388 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:164944570 (GRCh38)
2:165801080 (GRCh37)
Canonical SPDI:: NC_000002.12:164944569:T:A
Gene:: SLC38A11 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.164944570T>A, NC_000002.11:g.165801080T>A, NM_001351538.2:c.261A>T, NM_001351538.1:c.261A>T, NM_001351537.2:c.429A>T, NM_001351537.1:c.429A>T, NM_001199148.2:c.261A>T, NM_001199148.1:c.261A>T, NM_001351539.2:c.63A>T, NM_001351539.1:c.63A>T, NM_001394061.1:c.63A>T

Select item 146693840211.

rs1466938402 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:164939460 (GRCh38)
2:165795970 (GRCh37)
Canonical SPDI:: NC_000002.12:164939459:T:C
Gene:: SLC38A11 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.164939460T>C, NC_000002.11:g.165795970T>C, NM_173512.3:c.293A>G, NM_173512.2:c.293A>G, NM_001351538.2:c.359A>G, NM_001351538.1:c.359A>G, NM_001351537.2:c.527A>G, NM_001351537.1:c.527A>G, NM_001199148.2:c.359A>G, NM_001199148.1:c.359A>G, NM_001351540.2:c.-241A>G, NM_001351540.1:c.-241A>G, NM_001351539.2:c.161A>G, NM_001351539.1:c.161A>G, NM_001394061.1:c.161A>G, NP_775783.1:p.Lys98Arg, NP_001338467.1:p.Lys120Arg, NP_001338466.1:p.Lys176Arg, NP_001186077.1:p.Lys120Arg, NP_001338468.1:p.Lys54Arg

Select item 146672879612.

rs1466728796 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:164915261 (GRCh38)
2:165771771 (GRCh37)
Canonical SPDI:: NC_000002.12:164915260:T:C
Gene:: SLC38A11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000002.12:g.164915261T>C, NC_000002.11:g.165771771T>C, NM_173512.3:c.467A>G, NM_173512.2:c.467A>G, NM_001351538.2:c.533A>G, NM_001351538.1:c.533A>G, NM_001351537.2:c.701A>G, NM_001351537.1:c.701A>G, NM_001199148.2:c.533A>G, NM_001199148.1:c.533A>G, NM_001351540.2:c.116A>G, NM_001351540.1:c.116A>G, NM_001351539.2:c.335A>G, NM_001351539.1:c.335A>G, NM_001394061.1:c.335A>G, NP_775783.1:p.His156Arg, NP_001338467.1:p.His178Arg, NP_001338466.1:p.His234Arg, NP_001186077.1:p.His178Arg, NP_001338469.1:p.His39Arg, NP_001338468.1:p.His112Arg

Select item 146507335313.

rs1465073353 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:164954714 (GRCh38)
2:165811224 (GRCh37)
Canonical SPDI:: NC_000002.12:164954713:G:C
Gene:: SLC38A11 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.164954714G>C, NC_000002.11:g.165811224G>C, NM_001351538.2:c.-189C>G, NM_001351538.1:c.-189C>G, NM_001351537.2:c.71C>G, NM_001351537.1:c.71C>G, NP_001338466.1:p.Ser24Cys

Select item 146343200114.

rs1463432001 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:164915934 (GRCh38)
2:165772444 (GRCh37)
Canonical SPDI:: NC_000002.12:164915933:A:T
Gene:: SLC38A11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.164915934A>T, NC_000002.11:g.165772444A>T, NM_173512.3:c.423T>A, NM_173512.2:c.423T>A, NM_001351538.2:c.489T>A, NM_001351538.1:c.489T>A, NM_001351537.2:c.657T>A, NM_001351537.1:c.657T>A, NM_001199148.2:c.489T>A, NM_001199148.1:c.489T>A, NM_001351540.2:c.72T>A, NM_001351540.1:c.72T>A, NM_001351539.2:c.291T>A, NM_001351539.1:c.291T>A, NM_001394061.1:c.291T>A, NP_775783.1:p.Asn141Lys, NP_001338467.1:p.Asn163Lys, NP_001338466.1:p.Asn219Lys, NP_001186077.1:p.Asn163Lys, NP_001338469.1:p.Asn24Lys, NP_001338468.1:p.Asn97Lys

Select item 145957954215.

rs1459579542 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:164898699 (GRCh38)
2:165755209 (GRCh37)
Canonical SPDI:: NC_000002.12:164898698:A:G
Gene:: SLC38A11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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.164898699A>G, NC_000002.11:g.165755209A>G, NM_173512.3:c.893T>C, NM_173512.2:c.893T>C, NM_001351538.2:c.959T>C, NM_001351538.1:c.959T>C, NM_001351537.2:c.1127T>C, NM_001351537.1:c.1127T>C, NM_001199148.2:c.959T>C, NM_001199148.1:c.959T>C, NM_001351540.2:c.542T>C, NM_001351540.1:c.542T>C, NM_001351539.2:c.761T>C, NM_001351539.1:c.761T>C, NP_775783.1:p.Ile298Thr, NP_001338467.1:p.Ile320Thr, NP_001338466.1:p.Ile376Thr, NP_001186077.1:p.Ile320Thr, NP_001338469.1:p.Ile181Thr, NP_001338468.1:p.Ile254Thr

Select item 145775949616.

rs1457759496 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:164952735 (GRCh38)
2:165809245 (GRCh37)
Canonical SPDI:: NC_000002.12:164952734:C:A
Gene:: SLC38A11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00005/1 (ALFA)
HGVS:: NC_000002.12:g.164952735C>A, NC_000002.11:g.165809245C>A, NM_173512.3:c.33G>T, NM_173512.2:c.33G>T, NM_001351538.2:c.33G>T, NM_001351538.1:c.33G>T, NM_001351537.2:c.201G>T, NM_001351537.1:c.201G>T, NM_001199148.2:c.33G>T, NM_001199148.1:c.33G>T, NP_775783.1:p.Leu11Phe, NP_001338467.1:p.Leu11Phe, NP_001338466.1:p.Leu67Phe, NP_001186077.1:p.Leu11Phe

Select item 145510730017.

rs1455107300 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:164954718 (GRCh38)
2:165811228 (GRCh37)
Canonical SPDI:: NC_000002.12:164954717:C:T
Gene:: SLC38A11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000007/1 (GnomAD_exomes)
T=0.000106/2 (TOMMO)
T=0.000342/1 (KOREAN)
HGVS:: NC_000002.12:g.164954718C>T, NC_000002.11:g.165811228C>T, NM_001351538.2:c.-193G>A, NM_001351538.1:c.-193G>A, NM_001351537.2:c.67G>A, NM_001351537.1:c.67G>A, NP_001338466.1:p.Val23Ile

Select item 145268092518.

rs1452680925 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:164898696 (GRCh38)
2:165755206 (GRCh37)
Canonical SPDI:: NC_000002.12:164898695:A:C
Gene:: SLC38A11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.164898696A>C, NC_000002.11:g.165755206A>C, NM_173512.3:c.896T>G, NM_173512.2:c.896T>G, NM_001351538.2:c.962T>G, NM_001351538.1:c.962T>G, NM_001351537.2:c.1130T>G, NM_001351537.1:c.1130T>G, NM_001199148.2:c.962T>G, NM_001199148.1:c.962T>G, NM_001351540.2:c.545T>G, NM_001351540.1:c.545T>G, NM_001351539.2:c.764T>G, NM_001351539.1:c.764T>G, NP_775783.1:p.Ile299Ser, NP_001338467.1:p.Ile321Ser, NP_001338466.1:p.Ile377Ser, NP_001186077.1:p.Ile321Ser, NP_001338469.1:p.Ile182Ser, NP_001338468.1:p.Ile255Ser

Select item 145210617019.

rs1452106170 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:164937421 (GRCh38)
2:165793931 (GRCh37)
Canonical SPDI:: NC_000002.12:164937420:G:A
Gene:: SLC38A11 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,synonymous_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=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.164937421G>A, NC_000002.11:g.165793931G>A, NM_173512.3:c.312C>T, NM_173512.2:c.312C>T, NM_001351538.2:c.378C>T, NM_001351538.1:c.378C>T, NM_001351537.2:c.546C>T, NM_001351537.1:c.546C>T, NM_001199148.2:c.378C>T, NM_001199148.1:c.378C>T, NM_001351540.2:c.-40C>T, NM_001351540.1:c.-40C>T, NM_001351539.2:c.180C>T, NM_001351539.1:c.180C>T, NM_001394061.1:c.180C>T

Select item 145122060220.

rs1451220602 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:164952721 (GRCh38)
2:165809231 (GRCh37)
Canonical SPDI:: NC_000002.12:164952720:A:G
Gene:: SLC38A11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.164952721A>G, NC_000002.11:g.165809231A>G, NM_173512.3:c.47T>C, NM_173512.2:c.47T>C, NM_001351538.2:c.47T>C, NM_001351538.1:c.47T>C, NM_001351537.2:c.215T>C, NM_001351537.1:c.215T>C, NM_001199148.2:c.47T>C, NM_001199148.1:c.47T>C, NP_775783.1:p.Val16Ala, NP_001338467.1:p.Val16Ala, NP_001338466.1:p.Val72Ala, NP_001186077.1:p.Val16Ala

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