SNP Links for Protein (Select 970598236) - SNP

Links from Protein

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Select item 14903257611.

rs1490325761 [Homo sapiens]

Variant type:: INS
Alleles:: ->GGAAGAGGAGGAAGCCG [Show Flanks]
Chromosome:: 7:135691606 (GRCh38)
7:135376355 (GRCh37)
Canonical SPDI:: NC_000007.14:135691606::GGAAGAGGAGGAAGCCG
Gene:: SLC13A4 (Varview), LOC105375521 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,frameshift_variant
Validated:: by frequency,by cluster
MAF:: GGAAGAGGAGGAAGCCG=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.135691606_135691607insGGAAGAGGAGGAAGCCG, NC_000007.13:g.135376354_135376355insGGAAGAGGAGGAAGCCG, NM_012450.4:c.1259_1260insCGGCTTCCTCCTCTTCC, NM_012450.3:c.1259_1260insCGGCTTCCTCCTCTTCC, NM_012450.2:c.1259_1260insCGGCTTCCTCCTCTTCC, XM_011516024.4:c.1262_1263insCGGCTTCCTCCTCTTCC, XM_011516024.3:c.1262_1263insCGGCTTCCTCCTCTTCC, XM_011516024.2:c.1262_1263insCGGCTTCCTCCTCTTCC, XM_011516024.1:c.1262_1263insCGGCTTCCTCCTCTTCC, XR_928021.3:n.473_474insGGAAGAGGAGGAAGCCG, XR_928021.2:n.473_474insGGAAGAGGAGGAAGCCG, XR_928021.1:n.460_461insGGAAGAGGAGGAAGCCG, NM_001318192.2:c.1262_1263insCGGCTTCCTCCTCTTCC, NM_001318192.1:c.1262_1263insCGGCTTCCTCCTCTTCC, XM_017011962.2:c.1106_1107insCGGCTTCCTCCTCTTCC, XM_017011962.1:c.1106_1107insCGGCTTCCTCCTCTTCC, XM_047420184.1:c.1259_1260insCGGCTTCCTCCTCTTCC, NP_036582.2:p.Ile427fs, XP_011514326.1:p.Ile428fs, NP_001305121.1:p.Ile428fs, XP_016867451.1:p.Ile376fs, XP_047276140.1:p.Ile427fs

Select item 14898628012.

rs1489862801 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:135705607 (GRCh38)
7:135390355 (GRCh37)
Canonical SPDI:: NC_000007.14:135705606:A:G
Gene:: SLC13A4 (Varview), LOC105375521 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.135705607A>G, NC_000007.13:g.135390355A>G, NM_012450.4:c.582T>C, NM_012450.3:c.582T>C, NM_012450.2:c.582T>C, XM_011516024.4:c.582T>C, XM_011516024.3:c.582T>C, XM_011516024.2:c.582T>C, XM_011516024.1:c.582T>C, XR_928021.3:n.6015A>G, NM_001318192.2:c.582T>C, NM_001318192.1:c.582T>C, XM_017011962.2:c.426T>C, XM_017011962.1:c.426T>C, XM_047420184.1:c.582T>C

Select item 14846697443.

rs1484669744 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:135706212 (GRCh38)
7:135390960 (GRCh37)
Canonical SPDI:: NC_000007.14:135706211:C:T
Gene:: SLC13A4 (Varview), LOC105375521 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000094/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.135706212C>T, NC_000007.13:g.135390960C>T, NM_012450.4:c.454G>A, NM_012450.3:c.454G>A, NM_012450.2:c.454G>A, XM_011516024.4:c.454G>A, XM_011516024.3:c.454G>A, XM_011516024.2:c.454G>A, XM_011516024.1:c.454G>A, XR_928021.3:n.6620C>T, NM_001318192.2:c.454G>A, NM_001318192.1:c.454G>A, XM_017011962.2:c.298G>A, XM_017011962.1:c.298G>A, XM_047420184.1:c.454G>A, NP_036582.2:p.Glu152Lys, XP_011514326.1:p.Glu152Lys, NP_001305121.1:p.Glu152Lys, XP_016867451.1:p.Glu100Lys, XP_047276140.1:p.Glu152Lys

Select item 14843849484.

rs1484384948 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:135695471 (GRCh38)
7:135380219 (GRCh37)
Canonical SPDI:: NC_000007.14:135695470:C:G,NC_000007.14:135695470:C:T
Gene:: SLC13A4 (Varview), LOC105375521 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.135695471C>G, NC_000007.14:g.135695471C>T, NC_000007.13:g.135380219C>G, NC_000007.13:g.135380219C>T, NM_012450.4:c.913G>C, NM_012450.4:c.913G>A, NM_012450.3:c.913G>C, NM_012450.3:c.913G>A, NM_012450.2:c.913G>C, NM_012450.2:c.913G>A, XM_011516024.4:c.916G>C, XM_011516024.4:c.916G>A, XM_011516024.3:c.916G>C, XM_011516024.3:c.916G>A, XM_011516024.2:c.916G>C, XM_011516024.2:c.916G>A, XM_011516024.1:c.916G>C, XM_011516024.1:c.916G>A, NM_001318192.2:c.916G>C, NM_001318192.2:c.916G>A, NM_001318192.1:c.916G>C, NM_001318192.1:c.916G>A, XM_017011962.2:c.760G>C, XM_017011962.2:c.760G>A, XM_017011962.1:c.760G>C, XM_017011962.1:c.760G>A, XM_047420184.1:c.913G>C, XM_047420184.1:c.913G>A, NP_036582.2:p.Glu305Gln, NP_036582.2:p.Glu305Lys, XP_011514326.1:p.Glu306Gln, XP_011514326.1:p.Glu306Lys, NP_001305121.1:p.Glu306Gln, NP_001305121.1:p.Glu306Lys, XP_016867451.1:p.Glu254Gln, XP_016867451.1:p.Glu254Lys, XP_047276140.1:p.Glu305Gln, XP_047276140.1:p.Glu305Lys

Select item 14843110495.

rs1484311049 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:135706283 (GRCh38)
7:135391031 (GRCh37)
Canonical SPDI:: NC_000007.14:135706282:A:G
Gene:: SLC13A4 (Varview), LOC105375521 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.135706283A>G, NC_000007.13:g.135391031A>G, NM_012450.4:c.383T>C, NM_012450.3:c.383T>C, NM_012450.2:c.383T>C, XM_011516024.4:c.383T>C, XM_011516024.3:c.383T>C, XM_011516024.2:c.383T>C, XM_011516024.1:c.383T>C, XR_928021.3:n.6691A>G, NM_001318192.2:c.383T>C, NM_001318192.1:c.383T>C, XM_017011962.2:c.227T>C, XM_017011962.1:c.227T>C, XM_047420184.1:c.383T>C, NP_036582.2:p.Met128Thr, XP_011514326.1:p.Met128Thr, NP_001305121.1:p.Met128Thr, XP_016867451.1:p.Met76Thr, XP_047276140.1:p.Met128Thr

Select item 14818644016.

rs1481864401 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:135727485 (GRCh38)
7:135412233 (GRCh37)
Canonical SPDI:: NC_000007.14:135727484:C:A
Gene:: SLC13A4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.135727485C>A, NC_000007.13:g.135412233C>A, NM_012450.4:c.12G>T, NM_012450.3:c.12G>T, NM_012450.2:c.12G>T, XM_011516024.4:c.12G>T, XM_011516024.3:c.12G>T, XM_011516024.2:c.12G>T, XM_011516024.1:c.12G>T, NM_001318192.2:c.12G>T, NM_001318192.1:c.12G>T, XM_047420184.1:c.12G>T

Select item 14790818467.

rs1479081846 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:135702865 (GRCh38)
7:135387613 (GRCh37)
Canonical SPDI:: NC_000007.14:135702864:T:G
Gene:: SLC13A4 (Varview), LOC105375521 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.135702865T>G, NC_000007.13:g.135387613T>G, NM_012450.4:c.610A>C, NM_012450.3:c.610A>C, NM_012450.2:c.610A>C, XM_011516024.4:c.613A>C, XM_011516024.3:c.613A>C, XM_011516024.2:c.613A>C, XM_011516024.1:c.613A>C, XR_928021.3:n.3273T>G, NM_001318192.2:c.613A>C, NM_001318192.1:c.613A>C, XM_017011962.2:c.457A>C, XM_017011962.1:c.457A>C, XM_047420184.1:c.610A>C, NP_036582.2:p.Thr204Pro, XP_011514326.1:p.Thr205Pro, NP_001305121.1:p.Thr205Pro, XP_016867451.1:p.Thr153Pro, XP_047276140.1:p.Thr204Pro

Select item 14777011018.

rs1477701101 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:135691225 (GRCh38)
7:135375973 (GRCh37)
Canonical SPDI:: NC_000007.14:135691224:G:A
Gene:: SLC13A4 (Varview), LOC105375521 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.135691225G>A, NC_000007.13:g.135375973G>A, NM_012450.4:c.1419C>T, NM_012450.3:c.1419C>T, NM_012450.2:c.1419C>T, XM_011516024.4:c.1422C>T, XM_011516024.3:c.1422C>T, XM_011516024.2:c.1422C>T, XM_011516024.1:c.1422C>T, NM_001318192.2:c.1422C>T, NM_001318192.1:c.1422C>T, XM_017011962.2:c.1266C>T, XM_017011962.1:c.1266C>T, XM_047420184.1:c.1419C>T

Select item 14765460999.

rs1476546099 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:135684239 (GRCh38)
7:135368987 (GRCh37)
Canonical SPDI:: NC_000007.14:135684238:G:A
Gene:: SLC13A4 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_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_000007.14:g.135684239G>A, NC_000007.13:g.135368987G>A, NM_012450.4:c.1628C>T, NM_012450.3:c.1628C>T, NM_012450.2:c.1628C>T, NM_001318192.2:c.1631C>T, NM_001318192.1:c.1631C>T, XM_017011962.2:c.1475C>T, XM_017011962.1:c.1475C>T, NP_036582.2:p.Pro543Leu, NP_001305121.1:p.Pro544Leu, XP_016867451.1:p.Pro492Leu

Select item 147604673910.

rs1476046739 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:135692409 (GRCh38)
7:135377157 (GRCh37)
Canonical SPDI:: NC_000007.14:135692408:C:T
Gene:: SLC13A4 (Varview), LOC105375521 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000071/1 (TOMMO)
HGVS:: NC_000007.14:g.135692409C>T, NC_000007.13:g.135377157C>T, NM_012450.4:c.1134G>A, NM_012450.3:c.1134G>A, NM_012450.2:c.1134G>A, XM_011516024.4:c.1137G>A, XM_011516024.3:c.1137G>A, XM_011516024.2:c.1137G>A, XM_011516024.1:c.1137G>A, NM_001318192.2:c.1137G>A, NM_001318192.1:c.1137G>A, XM_017011962.2:c.981G>A, XM_017011962.1:c.981G>A, XM_047420184.1:c.1134G>A

Select item 147582361811.

rs1475823618 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:135708179 (GRCh38)
7:135392927 (GRCh37)
Canonical SPDI:: NC_000007.14:135708178:C:G
Gene:: SLC13A4 (Varview), LOC105375521 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.135708179C>G, NC_000007.13:g.135392927C>G, NM_012450.4:c.300G>C, NM_012450.3:c.300G>C, NM_012450.2:c.300G>C, XM_011516024.4:c.300G>C, XM_011516024.3:c.300G>C, XM_011516024.2:c.300G>C, XM_011516024.1:c.300G>C, XR_928021.3:n.8025C>G, NM_001318192.2:c.300G>C, NM_001318192.1:c.300G>C, XM_047420184.1:c.300G>C, XR_007060541.1:n.1265C>G, XR_007060542.1:n.1230C>G, NP_036582.2:p.Glu100Asp, XP_011514326.1:p.Glu100Asp, NP_001305121.1:p.Glu100Asp, XP_047276140.1:p.Glu100Asp

Select item 147482913112.

rs1474829131 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:135694159 (GRCh38)
7:135378907 (GRCh37)
Canonical SPDI:: NC_000007.14:135694158:A:G
Gene:: SLC13A4 (Varview), LOC105375521 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_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_000007.14:g.135694159A>G, NC_000007.13:g.135378907A>G, NM_012450.4:c.1096T>C, NM_012450.3:c.1096T>C, NM_012450.2:c.1096T>C, XM_011516024.4:c.1099T>C, XM_011516024.3:c.1099T>C, XM_011516024.2:c.1099T>C, XM_011516024.1:c.1099T>C, NM_001318192.2:c.1099T>C, NM_001318192.1:c.1099T>C, XM_017011962.2:c.943T>C, XM_017011962.1:c.943T>C, XM_047420184.1:c.1096T>C, NP_036582.2:p.Tyr366His, XP_011514326.1:p.Tyr367His, NP_001305121.1:p.Tyr367His, XP_016867451.1:p.Tyr315His, XP_047276140.1:p.Tyr366His

Select item 147292525813.

rs1472925258 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:135705628 (GRCh38)
7:135390376 (GRCh37)
Canonical SPDI:: NC_000007.14:135705627:T:C
Gene:: SLC13A4 (Varview), LOC105375521 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.135705628T>C, NC_000007.13:g.135390376T>C, NM_012450.4:c.561A>G, NM_012450.3:c.561A>G, NM_012450.2:c.561A>G, XM_011516024.4:c.561A>G, XM_011516024.3:c.561A>G, XM_011516024.2:c.561A>G, XM_011516024.1:c.561A>G, XR_928021.3:n.6036T>C, NM_001318192.2:c.561A>G, NM_001318192.1:c.561A>G, XM_017011962.2:c.405A>G, XM_017011962.1:c.405A>G, XM_047420184.1:c.561A>G

Select item 147224426414.

rs1472244264 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:135695394 (GRCh38)
7:135380142 (GRCh37)
Canonical SPDI:: NC_000007.14:135695393:C:A
Gene:: SLC13A4 (Varview), LOC105375521 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000007.14:g.135695394C>A, NC_000007.13:g.135380142C>A, NM_012450.4:c.990G>T, NM_012450.3:c.990G>T, NM_012450.2:c.990G>T, XM_011516024.4:c.993G>T, XM_011516024.3:c.993G>T, XM_011516024.2:c.993G>T, XM_011516024.1:c.993G>T, NM_001318192.2:c.993G>T, NM_001318192.1:c.993G>T, XM_017011962.2:c.837G>T, XM_017011962.1:c.837G>T, XM_047420184.1:c.990G>T, NP_036582.2:p.Trp330Cys, XP_011514326.1:p.Trp331Cys, NP_001305121.1:p.Trp331Cys, XP_016867451.1:p.Trp279Cys, XP_047276140.1:p.Trp330Cys

Select item 146782009015.

rs1467820090 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:135681684 (GRCh38)
7:135366432 (GRCh37)
Canonical SPDI:: NC_000007.14:135681683:C:T
Gene:: SLC13A4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.135681684C>T, NC_000007.13:g.135366432C>T, NM_012450.4:c.1760G>A, NM_012450.3:c.1760G>A, NM_012450.2:c.1760G>A, XM_011516024.4:c.1625G>A, XM_011516024.3:c.1625G>A, XM_011516024.2:c.1625G>A, XM_011516024.1:c.1625G>A, NM_001318192.2:c.1763G>A, NM_001318192.1:c.1763G>A, XM_017011962.2:c.1607G>A, XM_017011962.1:c.1607G>A, XM_047420184.1:c.1622G>A, NP_036582.2:p.Gly587Glu, XP_011514326.1:p.Gly542Glu, NP_001305121.1:p.Gly588Glu, XP_016867451.1:p.Gly536Glu, XP_047276140.1:p.Gly541Glu

Select item 146149700716.

rs1461497007 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:135721477 (GRCh38)
7:135406225 (GRCh37)
Canonical SPDI:: NC_000007.14:135721476:A:G
Gene:: SLC13A4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.135721477A>G, NC_000007.13:g.135406225A>G, NM_012450.4:c.146T>C, NM_012450.3:c.146T>C, NM_012450.2:c.146T>C, XM_011516024.4:c.146T>C, XM_011516024.3:c.146T>C, XM_011516024.2:c.146T>C, XM_011516024.1:c.146T>C, NM_001318192.2:c.146T>C, NM_001318192.1:c.146T>C, XM_047420184.1:c.146T>C, NP_036582.2:p.Val49Ala, XP_011514326.1:p.Val49Ala, NP_001305121.1:p.Val49Ala, XP_047276140.1:p.Val49Ala

Select item 145609370417.

rs1456093704 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:135691645 (GRCh38)
7:135376393 (GRCh37)
Canonical SPDI:: NC_000007.14:135691644:C:T
Gene:: SLC13A4 (Varview), LOC105375521 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.135691645C>T, NC_000007.13:g.135376393C>T, NM_012450.4:c.1221G>A, NM_012450.3:c.1221G>A, NM_012450.2:c.1221G>A, XM_011516024.4:c.1224G>A, XM_011516024.3:c.1224G>A, XM_011516024.2:c.1224G>A, XM_011516024.1:c.1224G>A, XR_928021.3:n.512C>T, XR_928021.2:n.512C>T, XR_928021.1:n.499C>T, NM_001318192.2:c.1224G>A, NM_001318192.1:c.1224G>A, XM_017011962.2:c.1068G>A, XM_017011962.1:c.1068G>A, XM_047420184.1:c.1221G>A, XR_007060541.1:n.7C>T

Select item 145500959818.

rs1455009598 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:135695433 (GRCh38)
7:135380181 (GRCh37)
Canonical SPDI:: NC_000007.14:135695432:G:A
Gene:: SLC13A4 (Varview), LOC105375521 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.135695433G>A, NC_000007.13:g.135380181G>A, NM_012450.4:c.951C>T, NM_012450.3:c.951C>T, NM_012450.2:c.951C>T, XM_011516024.4:c.954C>T, XM_011516024.3:c.954C>T, XM_011516024.2:c.954C>T, XM_011516024.1:c.954C>T, NM_001318192.2:c.954C>T, NM_001318192.1:c.954C>T, XM_017011962.2:c.798C>T, XM_017011962.1:c.798C>T, XM_047420184.1:c.951C>T

Select item 145360084019.

rs1453600840 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:135721448 (GRCh38)
7:135406196 (GRCh37)
Canonical SPDI:: NC_000007.14:135721447:C:T
Gene:: SLC13A4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.135721448C>T, NC_000007.13:g.135406196C>T, NM_012450.4:c.175G>A, NM_012450.3:c.175G>A, NM_012450.2:c.175G>A, XM_011516024.4:c.175G>A, XM_011516024.3:c.175G>A, XM_011516024.2:c.175G>A, XM_011516024.1:c.175G>A, NM_001318192.2:c.175G>A, NM_001318192.1:c.175G>A, XM_047420184.1:c.175G>A, NP_036582.2:p.Ala59Thr, XP_011514326.1:p.Ala59Thr, NP_001305121.1:p.Ala59Thr, XP_047276140.1:p.Ala59Thr

Select item 145069207520.

rs1450692075 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:135681659 (GRCh38)
7:135366407 (GRCh37)
Canonical SPDI:: NC_000007.14:135681658:T:C
Gene:: SLC13A4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.135681659T>C, NC_000007.13:g.135366407T>C, NM_012450.4:c.1785A>G, NM_012450.3:c.1785A>G, NM_012450.2:c.1785A>G, XM_011516024.4:c.1650A>G, XM_011516024.3:c.1650A>G, XM_011516024.2:c.1650A>G, XM_011516024.1:c.1650A>G, NM_001318192.2:c.1788A>G, NM_001318192.1:c.1788A>G, XM_017011962.2:c.1632A>G, XM_017011962.1:c.1632A>G, XM_047420184.1:c.1647A>G, NP_036582.2:p.Ile595Met, XP_011514326.1:p.Ile550Met, NP_001305121.1:p.Ile596Met, XP_016867451.1:p.Ile544Met, XP_047276140.1:p.Ile549Met

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