SNP Links for Nucleotide (Select 388423197) - SNP

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:23155244 (GRCh38)
14:23624453 (GRCh37)
Canonical SPDI:: NC_000014.9:23155243:G:A
Gene:: SLC7A8 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.23155244G>A, NC_000014.8:g.23624453G>A, NR_049767.2:n.77C>T, NR_049767.1:n.215C>T, NM_001267036.1:c.115C>T, NP_001253965.1:p.Leu39Phe

Select item 14818251658.

rs1481825165 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:23128090 (GRCh38)
14:23597299 (GRCh37)
Canonical SPDI:: NC_000014.9:23128089:A:G
Gene:: SLC7A8 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.23128090A>G, NC_000014.8:g.23597299A>G, NM_012244.4:c.1370T>C, NM_012244.3:c.1370T>C, NM_182728.3:c.761T>C, NM_182728.2:c.761T>C, NR_049767.2:n.957T>C, NR_049767.1:n.1095T>C, NM_001267037.2:c.698T>C, NM_001267037.1:c.698T>C, NM_001267036.1:c.1055T>C, NP_036376.2:p.Leu457Pro, NP_877392.1:p.Leu254Pro, NP_001253966.1:p.Leu233Pro, NP_001253965.1:p.Leu352Pro

Select item 14789196019.

rs1478919601 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:23128030 (GRCh38)
14:23597239 (GRCh37)
Canonical SPDI:: NC_000014.9:23128029:C:T
Gene:: SLC7A8 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.23128030C>T, NC_000014.8:g.23597239C>T, NM_012244.4:c.1430G>A, NM_012244.3:c.1430G>A, NM_182728.3:c.821G>A, NM_182728.2:c.821G>A, NR_049767.2:n.1017G>A, NR_049767.1:n.1155G>A, NM_001267037.2:c.758G>A, NM_001267037.1:c.758G>A, NM_001267036.1:c.1115G>A, NP_036376.2:p.Ser477Asn, NP_877392.1:p.Ser274Asn, NP_001253966.1:p.Ser253Asn, NP_001253965.1:p.Ser372Asn

Select item 147868428810.

rs1478684288 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:23126732 (GRCh38)
14:23595941 (GRCh37)
Canonical SPDI:: NC_000014.9:23126731:G:A
Gene:: SLC7A8 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.23126732G>A, NC_000014.8:g.23595941G>A, NM_012244.4:c.*445C>T, NM_012244.3:c.*445C>T, NM_182728.3:c.*445C>T, NM_182728.2:c.*445C>T, NR_049767.2:n.1640C>T, NR_049767.1:n.1778C>T, NM_001267037.2:c.*445C>T, NM_001267037.1:c.*445C>T, NM_001267036.1:c.*445C>T

Select item 147836051111.

rs1478360511 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:23127125 (GRCh38)
14:23596334 (GRCh37)
Canonical SPDI:: NC_000014.9:23127124:G:A
Gene:: SLC7A8 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.23127125G>A, NC_000014.8:g.23596334G>A, NM_012244.4:c.*52C>T, NM_012244.3:c.*52C>T, NM_182728.3:c.*52C>T, NM_182728.2:c.*52C>T, NR_049767.2:n.1247C>T, NR_049767.1:n.1385C>T, NM_001267037.2:c.*52C>T, NM_001267037.1:c.*52C>T, NM_001267036.1:c.*52C>T

Select item 147769977912.

rs1477699779 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:23126260 (GRCh38)
14:23595469 (GRCh37)
Canonical SPDI:: NC_000014.9:23126259:G:A
Gene:: SLC7A8 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.23126260G>A, NC_000014.8:g.23595469G>A, NM_012244.4:c.*917C>T, NM_012244.3:c.*917C>T, NM_182728.3:c.*917C>T, NM_182728.2:c.*917C>T, NR_049767.2:n.2112C>T, NR_049767.1:n.2250C>T, NM_001267037.2:c.*917C>T, NM_001267037.1:c.*917C>T, NM_001267036.1:c.*917C>T

Select item 147622188813.

rs1476221888 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACTCA>- [Show Flanks]
Chromosome:: 14:23125622 (GRCh38)
14:23594831 (GRCh37)
Canonical SPDI:: NC_000014.9:23125619:CAACTCA:CA
Gene:: SLC7A8 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CA=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000034/9 (TOPMED)
HGVS:: NC_000014.9:g.23125622_23125626del, NC_000014.8:g.23594831_23594835del, NM_012244.4:c.*1553_*1557del, NM_012244.3:c.*1553_*1557del, NM_182728.3:c.*1553_*1557del, NM_182728.2:c.*1553_*1557del, NR_049767.2:n.2748_2752del, NR_049767.1:n.2886_2890del, NM_001267037.2:c.*1553_*1557del, NM_001267037.1:c.*1553_*1557del, NM_001267036.1:c.*1553_*1557del

Select item 147539106114.

rs1475391061 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:23143115 (GRCh38)
14:23612324 (GRCh37)
Canonical SPDI:: NC_000014.9:23143114:G:A
Gene:: SLC7A8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.23143115G>A, NC_000014.8:g.23612324G>A, NM_012244.4:c.598C>T, NM_012244.3:c.598C>T, NM_182728.3:c.-12C>T, NM_182728.2:c.-12C>T, NR_049767.2:n.245C>T, NR_049767.1:n.383C>T, NM_001267037.2:c.80C>T, NM_001267037.1:c.80C>T, NM_001267036.1:c.283C>T, NP_001253966.1:p.Pro27Leu

Select item 147453263015.

rs1474532630 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 14:23138009 (GRCh38)
14:23607218 (GRCh37)
Canonical SPDI:: NC_000014.9:23138008:G:A,NC_000014.9:23138008:G:T
Gene:: SLC7A8 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000014.9:g.23138009G>A, NC_000014.9:g.23138009G>T, NC_000014.8:g.23607218G>A, NC_000014.8:g.23607218G>T, NM_012244.4:c.928C>T, NM_012244.4:c.928C>A, NM_012244.3:c.928C>T, NM_012244.3:c.928C>A, NM_182728.3:c.319C>T, NM_182728.3:c.319C>A, NM_182728.2:c.319C>T, NM_182728.2:c.319C>A, NM_001267037.2:c.256C>T, NM_001267037.2:c.256C>A, NM_001267037.1:c.256C>T, NM_001267037.1:c.256C>A, NM_001267036.1:c.613C>T, NM_001267036.1:c.613C>A, NP_036376.2:p.Leu310Phe, NP_036376.2:p.Leu310Ile, NP_877392.1:p.Leu107Phe, NP_877392.1:p.Leu107Ile, NP_001253966.1:p.Leu86Phe, NP_001253966.1:p.Leu86Ile, NP_001253965.1:p.Leu205Phe, NP_001253965.1:p.Leu205Ile

Select item 147448208616.

rs1474482086 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:23143199 (GRCh38)
14:23612408 (GRCh37)
Canonical SPDI:: NC_000014.9:23143198:G:A
Gene:: SLC7A8 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.23143199G>A, NC_000014.8:g.23612408G>A, NM_012244.4:c.514C>T, NM_012244.3:c.514C>T, NM_182728.3:c.-96C>T, NM_182728.2:c.-96C>T, NR_049767.2:n.161C>T, NR_049767.1:n.299C>T, NM_001267037.2:c.-5C>T, NM_001267037.1:c.-5C>T, NM_001267036.1:c.199C>T, NP_036376.2:p.Leu172Phe, NP_001253965.1:p.Leu67Phe

Select item 147407031817.

rs1474070318 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:23125922 (GRCh38)
14:23595131 (GRCh37)
Canonical SPDI:: NC_000014.9:23125921:G:A
Gene:: SLC7A8 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000014.9:g.23125922G>A, NC_000014.8:g.23595131G>A, NM_012244.4:c.*1255C>T, NM_012244.3:c.*1255C>T, NM_182728.3:c.*1255C>T, NM_182728.2:c.*1255C>T, NR_049767.2:n.2450C>T, NR_049767.1:n.2588C>T, NM_001267037.2:c.*1255C>T, NM_001267037.1:c.*1255C>T, NM_001267036.1:c.*1255C>T

Select item 147251558818.

rs1472515588 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTC>- [Show Flanks]
Chromosome:: 14:23126809 (GRCh38)
14:23596018 (GRCh37)
Canonical SPDI:: NC_000014.9:23126805:CTCCTC:CTC
Gene:: SLC7A8 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCCTC=0./0 (ALFA)
-=0.000015/4 (TOPMED)
-=0.000036/5 (GnomAD)
HGVS:: NC_000014.9:g.23126806CTC[1], NC_000014.8:g.23596015CTC[1], NM_012244.4:c.*366GAG[1], NM_012244.3:c.*366GAG[1], NM_182728.3:c.*366GAG[1], NM_182728.2:c.*366GAG[1], NR_049767.2:n.1561GAG[1], NR_049767.1:n.1699GAG[1], NM_001267037.2:c.*366GAG[1], NM_001267037.1:c.*366GAG[1], NM_001267036.1:c.*366GAG[1]

Select item 147142927319.

rs1471429273 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 14:23125304 (GRCh38)
14:23594513 (GRCh37)
Canonical SPDI:: NC_000014.9:23125303:A:T
Gene:: SLC7A8 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.23125304A>T, NC_000014.8:g.23594513A>T, NM_012244.4:c.*1873T>A, NM_012244.3:c.*1873T>A, NM_182728.3:c.*1873T>A, NM_182728.2:c.*1873T>A, NR_049767.2:n.3068T>A, NR_049767.1:n.3206T>A, NM_001267037.2:c.*1873T>A, NM_001267037.1:c.*1873T>A, NM_001267036.1:c.*1873T>A

Select item 147008116320.

rs1470081163 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 14:23140556 (GRCh38)
14:23609765 (GRCh37)
Canonical SPDI:: NC_000014.9:23140555:C:A,NC_000014.9:23140555:C:G,NC_000014.9:23140555:C:T
Gene:: SLC7A8 (Varview)
Functional Consequence:: missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.23140556C>A, NC_000014.9:g.23140556C>G, NC_000014.9:g.23140556C>T, NC_000014.8:g.23609765C>A, NC_000014.8:g.23609765C>G, NC_000014.8:g.23609765C>T, NM_012244.4:c.703G>T, NM_012244.4:c.703G>C, NM_012244.4:c.703G>A, NM_012244.3:c.703G>T, NM_012244.3:c.703G>C, NM_012244.3:c.703G>A, NM_182728.3:c.94G>T, NM_182728.3:c.94G>C, NM_182728.3:c.94G>A, NM_182728.2:c.94G>T, NM_182728.2:c.94G>C, NM_182728.2:c.94G>A, NR_049767.2:n.350G>T, NR_049767.2:n.350G>C, NR_049767.2:n.350G>A, NR_049767.1:n.488G>T, NR_049767.1:n.488G>C, NR_049767.1:n.488G>A, NM_001267036.1:c.388G>T, NM_001267036.1:c.388G>C, NM_001267036.1:c.388G>A, NP_036376.2:p.Ala235Ser, NP_036376.2:p.Ala235Pro, NP_036376.2:p.Ala235Thr, NP_877392.1:p.Ala32Ser, NP_877392.1:p.Ala32Pro, NP_877392.1:p.Ala32Thr, NP_001253965.1:p.Ala130Ser, NP_001253965.1:p.Ala130Pro, NP_001253965.1:p.Ala130Thr

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