SNP Links for Protein (Select 578820352) - SNP

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Links from Protein

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Select item 14840801691.

rs1484080169 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:26711349 (GRCh38)
11:26732896 (GRCh37)
Canonical SPDI:: NC_000011.10:26711348:T:C
Gene:: SLC5A12 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.26711349T>C, NC_000011.9:g.26732896T>C, NM_178498.4:c.415A>G, NM_178498.3:c.415A>G, XM_006718155.4:c.82A>G, XM_006718155.3:c.82A>G, XM_006718155.2:c.82A>G, XM_006718155.1:c.82A>G, XM_006718156.4:c.415A>G, XM_006718156.3:c.415A>G, XM_006718156.2:c.415A>G, XM_006718156.1:c.415A>G, XM_011519920.3:c.-150A>G, XM_011519920.2:c.-150A>G, XM_011519920.1:c.-150A>G, XM_011519921.3:c.415A>G, XM_011519921.2:c.415A>G, XM_011519921.1:c.415A>G, XM_017017244.2:c.-150A>G, XM_017017244.1:c.-150A>G, NM_001042366.2:c.415A>G, NM_001042366.1:c.415A>G, XM_047426454.1:c.415A>G, NP_848593.2:p.Thr139Ala, XP_006718218.1:p.Thr28Ala, XP_006718219.1:p.Thr139Ala, XP_011518223.1:p.Thr139Ala, XP_047282410.1:p.Thr139Ala

Select item 14835015542.

rs1483501554 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:26698517 (GRCh38)
11:26720064 (GRCh37)
Canonical SPDI:: NC_000011.10:26698516:C:A
Gene:: SLC5A12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000011.10:g.26698517C>A, NC_000011.9:g.26720064C>A, NM_178498.4:c.840G>T, NM_178498.3:c.840G>T, XM_006718155.4:c.507G>T, XM_006718155.3:c.507G>T, XM_006718155.2:c.507G>T, XM_006718155.1:c.507G>T, XM_006718156.4:c.840G>T, XM_006718156.3:c.840G>T, XM_006718156.2:c.840G>T, XM_006718156.1:c.840G>T, XM_011519920.3:c.276G>T, XM_011519920.2:c.276G>T, XM_011519920.1:c.276G>T, XM_011519921.3:c.840G>T, XM_011519921.2:c.840G>T, XM_011519921.1:c.840G>T, XM_017017244.2:c.276G>T, XM_017017244.1:c.276G>T, NM_001042366.2:c.840G>T, NM_001042366.1:c.840G>T, XM_047426454.1:c.840G>T, NP_848593.2:p.Leu280Phe, XP_006718218.1:p.Leu169Phe, XP_006718219.1:p.Leu280Phe, XP_011518222.1:p.Leu92Phe, XP_011518223.1:p.Leu280Phe, XP_016872733.1:p.Leu92Phe, XP_047282410.1:p.Leu280Phe

Select item 14820148453.

rs1482014845 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:26692580 (GRCh38)
11:26714127 (GRCh37)
Canonical SPDI:: NC_000011.10:26692579:A:T
Gene:: SLC5A12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000011.10:g.26692580A>T, NC_000011.9:g.26714127A>T, NM_178498.4:c.1062T>A, NM_178498.3:c.1062T>A, XM_006718155.4:c.729T>A, XM_006718155.3:c.729T>A, XM_006718155.2:c.729T>A, XM_006718155.1:c.729T>A, XM_006718156.4:c.1062T>A, XM_006718156.3:c.1062T>A, XM_006718156.2:c.1062T>A, XM_006718156.1:c.1062T>A, XM_011519920.3:c.498T>A, XM_011519920.2:c.498T>A, XM_011519920.1:c.498T>A, XM_011519921.3:c.1062T>A, XM_011519921.2:c.1062T>A, XM_011519921.1:c.1062T>A, XM_017017244.2:c.498T>A, XM_017017244.1:c.498T>A, NM_001042366.2:c.1062T>A, NM_001042366.1:c.1062T>A, XM_047426454.1:c.1062T>A, NP_848593.2:p.Asn354Lys, XP_006718218.1:p.Asn243Lys, XP_006718219.1:p.Asn354Lys, XP_011518222.1:p.Asn166Lys, XP_011518223.1:p.Asn354Lys, XP_016872733.1:p.Asn166Lys, XP_047282410.1:p.Asn354Lys

Select item 14804994244.

rs1480499424 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:26712687 (GRCh38)
11:26734234 (GRCh37)
Canonical SPDI:: NC_000011.10:26712686:T:C
Gene:: SLC5A12 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.26712687T>C, NC_000011.9:g.26734234T>C, NM_178498.4:c.359A>G, NM_178498.3:c.359A>G, XM_006718155.4:c.26A>G, XM_006718155.3:c.26A>G, XM_006718155.2:c.26A>G, XM_006718155.1:c.26A>G, XM_006718156.4:c.359A>G, XM_006718156.3:c.359A>G, XM_006718156.2:c.359A>G, XM_006718156.1:c.359A>G, XM_011519920.3:c.-206A>G, XM_011519920.2:c.-206A>G, XM_011519920.1:c.-206A>G, XM_011519921.3:c.359A>G, XM_011519921.2:c.359A>G, XM_011519921.1:c.359A>G, XM_017017244.2:c.-206A>G, XM_017017244.1:c.-206A>G, NM_001042366.2:c.359A>G, NM_001042366.1:c.359A>G, XM_047426454.1:c.359A>G, NP_848593.2:p.Asn120Ser, XP_006718218.1:p.Asn9Ser, XP_006718219.1:p.Asn120Ser, XP_011518223.1:p.Asn120Ser, XP_047282410.1:p.Asn120Ser

Select item 14778357495.

rs1477835749 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:26671103 (GRCh38)
11:26692650 (GRCh37)
Canonical SPDI:: NC_000011.10:26671102:T:C
Gene:: SLC5A12 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,terminator_codon_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.26671103T>C, NC_000011.9:g.26692650T>C, NM_178498.4:c.1856A>G, NM_178498.3:c.1856A>G, XM_006718155.4:c.1523A>G, XM_006718155.3:c.1523A>G, XM_006718155.2:c.1523A>G, XM_006718155.1:c.1523A>G, XM_011519920.3:c.1292A>G, XM_011519920.2:c.1292A>G, XM_011519920.1:c.1292A>G, XM_017017244.2:c.1292A>G, XM_017017244.1:c.1292A>G, NM_001042366.2:c.1856A>G, NM_001042366.1:c.1856A>G

Select item 14770231436.

rs1477023143 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:26703914 (GRCh38)
11:26725461 (GRCh37)
Canonical SPDI:: NC_000011.10:26703913:A:G
Gene:: SLC5A12 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.26703914A>G, NC_000011.9:g.26725461A>G, NM_178498.4:c.559T>C, NM_178498.3:c.559T>C, XM_006718155.4:c.226T>C, XM_006718155.3:c.226T>C, XM_006718155.2:c.226T>C, XM_006718155.1:c.226T>C, XM_006718156.4:c.559T>C, XM_006718156.3:c.559T>C, XM_006718156.2:c.559T>C, XM_006718156.1:c.559T>C, XM_011519920.3:c.-6T>C, XM_011519920.2:c.-6T>C, XM_011519920.1:c.-6T>C, XM_011519921.3:c.559T>C, XM_011519921.2:c.559T>C, XM_011519921.1:c.559T>C, XM_017017244.2:c.-6T>C, XM_017017244.1:c.-6T>C, NM_001042366.2:c.559T>C, NM_001042366.1:c.559T>C, XM_047426454.1:c.559T>C, NP_848593.2:p.Phe187Leu, XP_006718218.1:p.Phe76Leu, XP_006718219.1:p.Phe187Leu, XP_011518223.1:p.Phe187Leu, XP_047282410.1:p.Phe187Leu

Select item 14731401017.

rs1473140101 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:26709376 (GRCh38)
11:26730923 (GRCh37)
Canonical SPDI:: NC_000011.10:26709375:G:C
Gene:: SLC5A12 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.26709376G>C, NC_000011.9:g.26730923G>C, NM_178498.4:c.461C>G, NM_178498.3:c.461C>G, XM_006718155.4:c.128C>G, XM_006718155.3:c.128C>G, XM_006718155.2:c.128C>G, XM_006718155.1:c.128C>G, XM_006718156.4:c.461C>G, XM_006718156.3:c.461C>G, XM_006718156.2:c.461C>G, XM_006718156.1:c.461C>G, XM_011519920.3:c.-104C>G, XM_011519920.2:c.-104C>G, XM_011519920.1:c.-104C>G, XM_011519921.3:c.461C>G, XM_011519921.2:c.461C>G, XM_011519921.1:c.461C>G, XM_017017244.2:c.-104C>G, XM_017017244.1:c.-104C>G, NM_001042366.2:c.461C>G, NM_001042366.1:c.461C>G, XM_047426454.1:c.461C>G, NP_848593.2:p.Thr154Ser, XP_006718218.1:p.Thr43Ser, XP_006718219.1:p.Thr154Ser, XP_011518223.1:p.Thr154Ser, XP_047282410.1:p.Thr154Ser

Select item 14721950238.

rs1472195023 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:26683772 (GRCh38)
11:26705319 (GRCh37)
Canonical SPDI:: NC_000011.10:26683771:A:G
Gene:: SLC5A12 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_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_000011.10:g.26683772A>G, NC_000011.9:g.26705319A>G, NM_178498.4:c.1293T>C, NM_178498.3:c.1293T>C, XM_006718155.4:c.960T>C, XM_006718155.3:c.960T>C, XM_006718155.2:c.960T>C, XM_006718155.1:c.960T>C, XM_011519920.3:c.729T>C, XM_011519920.2:c.729T>C, XM_011519920.1:c.729T>C, XM_017017244.2:c.729T>C, XM_017017244.1:c.729T>C, NM_001042366.2:c.1293T>C, NM_001042366.1:c.1293T>C, XM_047426454.1:c.1297T>C, XP_047282410.1:p.Phe433Leu

Select item 14721100629.

rs1472110062 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:26692589 (GRCh38)
11:26714136 (GRCh37)
Canonical SPDI:: NC_000011.10:26692588:G:A
Gene:: SLC5A12 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.26692589G>A, NC_000011.9:g.26714136G>A, NM_178498.4:c.1053C>T, NM_178498.3:c.1053C>T, XM_006718155.4:c.720C>T, XM_006718155.3:c.720C>T, XM_006718155.2:c.720C>T, XM_006718155.1:c.720C>T, XM_006718156.4:c.1053C>T, XM_006718156.3:c.1053C>T, XM_006718156.2:c.1053C>T, XM_006718156.1:c.1053C>T, XM_011519920.3:c.489C>T, XM_011519920.2:c.489C>T, XM_011519920.1:c.489C>T, XM_011519921.3:c.1053C>T, XM_011519921.2:c.1053C>T, XM_011519921.1:c.1053C>T, XM_017017244.2:c.489C>T, XM_017017244.1:c.489C>T, NM_001042366.2:c.1053C>T, NM_001042366.1:c.1053C>T, XM_047426454.1:c.1053C>T

Select item 147063054010.

rs1470630540 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:26683843 (GRCh38)
11:26705390 (GRCh37)
Canonical SPDI:: NC_000011.10:26683842:C:G,NC_000011.10:26683842:C:T
Gene:: SLC5A12 (Varview)
Functional Consequence:: missense_variant,downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.26683843C>G, NC_000011.10:g.26683843C>T, NC_000011.9:g.26705390C>G, NC_000011.9:g.26705390C>T, NM_178498.4:c.1222G>C, NM_178498.4:c.1222G>A, NM_178498.3:c.1222G>C, NM_178498.3:c.1222G>A, XM_006718155.4:c.889G>C, XM_006718155.4:c.889G>A, XM_006718155.3:c.889G>C, XM_006718155.3:c.889G>A, XM_006718155.2:c.889G>C, XM_006718155.2:c.889G>A, XM_006718155.1:c.889G>C, XM_006718155.1:c.889G>A, XM_011519920.3:c.658G>C, XM_011519920.3:c.658G>A, XM_011519920.2:c.658G>C, XM_011519920.2:c.658G>A, XM_011519920.1:c.658G>C, XM_011519920.1:c.658G>A, XM_017017244.2:c.658G>C, XM_017017244.2:c.658G>A, XM_017017244.1:c.658G>C, XM_017017244.1:c.658G>A, NM_001042366.2:c.1222G>C, NM_001042366.2:c.1222G>A, NM_001042366.1:c.1222G>C, NM_001042366.1:c.1222G>A, XM_047426454.1:c.1226G>C, XM_047426454.1:c.1226G>A, NP_848593.2:p.Ala408Pro, NP_848593.2:p.Ala408Thr, XP_006718218.1:p.Ala297Pro, XP_006718218.1:p.Ala297Thr, XP_011518222.1:p.Ala220Pro, XP_011518222.1:p.Ala220Thr, XP_016872733.1:p.Ala220Pro, XP_016872733.1:p.Ala220Thr, XP_047282410.1:p.Gly409Ala, XP_047282410.1:p.Gly409Asp

Select item 147058847611.

rs1470588476 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:26703626 (GRCh38)
11:26725173 (GRCh37)
Canonical SPDI:: NC_000011.10:26703625:T:A
Gene:: SLC5A12 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000011.10:g.26703626T>A, NC_000011.9:g.26725173T>A, NM_178498.4:c.726A>T, NM_178498.3:c.726A>T, XM_006718155.4:c.393A>T, XM_006718155.3:c.393A>T, XM_006718155.2:c.393A>T, XM_006718155.1:c.393A>T, XM_006718156.4:c.726A>T, XM_006718156.3:c.726A>T, XM_006718156.2:c.726A>T, XM_006718156.1:c.726A>T, XM_011519920.3:c.162A>T, XM_011519920.2:c.162A>T, XM_011519920.1:c.162A>T, XM_011519921.3:c.726A>T, XM_011519921.2:c.726A>T, XM_011519921.1:c.726A>T, XM_017017244.2:c.162A>T, XM_017017244.1:c.162A>T, NM_001042366.2:c.726A>T, NM_001042366.1:c.726A>T, XM_047426454.1:c.726A>T

Select item 146789446212.

rs1467894462 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:26712652 (GRCh38)
11:26734199 (GRCh37)
Canonical SPDI:: NC_000011.10:26712651:T:C
Gene:: SLC5A12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000011.10:g.26712652T>C, NC_000011.9:g.26734199T>C, NM_178498.4:c.394A>G, NM_178498.3:c.394A>G, XM_006718155.4:c.61A>G, XM_006718155.3:c.61A>G, XM_006718155.2:c.61A>G, XM_006718155.1:c.61A>G, XM_006718156.4:c.394A>G, XM_006718156.3:c.394A>G, XM_006718156.2:c.394A>G, XM_006718156.1:c.394A>G, XM_011519920.3:c.-171A>G, XM_011519920.2:c.-171A>G, XM_011519920.1:c.-171A>G, XM_011519921.3:c.394A>G, XM_011519921.2:c.394A>G, XM_011519921.1:c.394A>G, XM_017017244.2:c.-171A>G, XM_017017244.1:c.-171A>G, NM_001042366.2:c.394A>G, NM_001042366.1:c.394A>G, XM_047426454.1:c.394A>G, NP_848593.2:p.Ile132Val, XP_006718218.1:p.Ile21Val, XP_006718219.1:p.Ile132Val, XP_011518223.1:p.Ile132Val, XP_047282410.1:p.Ile132Val

Select item 146573000913.

rs1465730009 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:26671209 (GRCh38)
11:26692756 (GRCh37)
Canonical SPDI:: NC_000011.10:26671208:A:G
Gene:: SLC5A12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_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_000011.10:g.26671209A>G, NC_000011.9:g.26692756A>G, NM_178498.4:c.1750T>C, NM_178498.3:c.1750T>C, XM_006718155.4:c.1417T>C, XM_006718155.3:c.1417T>C, XM_006718155.2:c.1417T>C, XM_006718155.1:c.1417T>C, XM_011519920.3:c.1186T>C, XM_011519920.2:c.1186T>C, XM_011519920.1:c.1186T>C, XM_017017244.2:c.1186T>C, XM_017017244.1:c.1186T>C, NM_001042366.2:c.1750T>C, NM_001042366.1:c.1750T>C, NP_848593.2:p.Ser584Pro, XP_006718218.1:p.Ser473Pro, XP_011518222.1:p.Ser396Pro, XP_016872733.1:p.Ser396Pro

Select item 146208599814.

rs1462085998 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:26681057 (GRCh38)
11:26702604 (GRCh37)
Canonical SPDI:: NC_000011.10:26681056:G:C
Gene:: SLC5A12 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.26681057G>C, NC_000011.9:g.26702604G>C, NM_178498.4:c.1473C>G, NM_178498.3:c.1473C>G, XM_006718155.4:c.1140C>G, XM_006718155.3:c.1140C>G, XM_006718155.2:c.1140C>G, XM_006718155.1:c.1140C>G, XM_011519920.3:c.909C>G, XM_011519920.2:c.909C>G, XM_011519920.1:c.909C>G, XM_017017244.2:c.909C>G, XM_017017244.1:c.909C>G, NM_001042366.2:c.1473C>G, NM_001042366.1:c.1473C>G, NP_848593.2:p.Ser491Arg, XP_006718218.1:p.Ser380Arg, XP_011518222.1:p.Ser303Arg, XP_016872733.1:p.Ser303Arg

Select item 146139097715.

rs1461390977 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:26703944 (GRCh38)
11:26725491 (GRCh37)
Canonical SPDI:: NC_000011.10:26703943:C:T
Gene:: SLC5A12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.26703944C>T, NC_000011.9:g.26725491C>T, NM_178498.4:c.529G>A, NM_178498.3:c.529G>A, XM_006718155.4:c.196G>A, XM_006718155.3:c.196G>A, XM_006718155.2:c.196G>A, XM_006718155.1:c.196G>A, XM_006718156.4:c.529G>A, XM_006718156.3:c.529G>A, XM_006718156.2:c.529G>A, XM_006718156.1:c.529G>A, XM_011519920.3:c.-36G>A, XM_011519920.2:c.-36G>A, XM_011519920.1:c.-36G>A, XM_011519921.3:c.529G>A, XM_011519921.2:c.529G>A, XM_011519921.1:c.529G>A, XM_017017244.2:c.-36G>A, XM_017017244.1:c.-36G>A, NM_001042366.2:c.529G>A, NM_001042366.1:c.529G>A, XM_047426454.1:c.529G>A, NP_848593.2:p.Gly177Arg, XP_006718218.1:p.Gly66Arg, XP_006718219.1:p.Gly177Arg, XP_011518223.1:p.Gly177Arg, XP_047282410.1:p.Gly177Arg

Select item 145662280216.

rs1456622802 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:26703671 (GRCh38)
11:26725218 (GRCh37)
Canonical SPDI:: NC_000011.10:26703670:G:A
Gene:: SLC5A12 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.26703671G>A, NC_000011.9:g.26725218G>A, NM_178498.4:c.681C>T, NM_178498.3:c.681C>T, XM_006718155.4:c.348C>T, XM_006718155.3:c.348C>T, XM_006718155.2:c.348C>T, XM_006718155.1:c.348C>T, XM_006718156.4:c.681C>T, XM_006718156.3:c.681C>T, XM_006718156.2:c.681C>T, XM_006718156.1:c.681C>T, XM_011519920.3:c.117C>T, XM_011519920.2:c.117C>T, XM_011519920.1:c.117C>T, XM_011519921.3:c.681C>T, XM_011519921.2:c.681C>T, XM_011519921.1:c.681C>T, XM_017017244.2:c.117C>T, XM_017017244.1:c.117C>T, NM_001042366.2:c.681C>T, NM_001042366.1:c.681C>T, XM_047426454.1:c.681C>T

Select item 145316345317.

rs1453163453 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:26712663 (GRCh38)
11:26734210 (GRCh37)
Canonical SPDI:: NC_000011.10:26712662:G:A
Gene:: SLC5A12 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000011.10:g.26712663G>A, NC_000011.9:g.26734210G>A, NM_178498.4:c.383C>T, NM_178498.3:c.383C>T, XM_006718155.4:c.50C>T, XM_006718155.3:c.50C>T, XM_006718155.2:c.50C>T, XM_006718155.1:c.50C>T, XM_006718156.4:c.383C>T, XM_006718156.3:c.383C>T, XM_006718156.2:c.383C>T, XM_006718156.1:c.383C>T, XM_011519920.3:c.-182C>T, XM_011519920.2:c.-182C>T, XM_011519920.1:c.-182C>T, XM_011519921.3:c.383C>T, XM_011519921.2:c.383C>T, XM_011519921.1:c.383C>T, XM_017017244.2:c.-182C>T, XM_017017244.1:c.-182C>T, NM_001042366.2:c.383C>T, NM_001042366.1:c.383C>T, XM_047426454.1:c.383C>T, NP_848593.2:p.Thr128Met, XP_006718218.1:p.Thr17Met, XP_006718219.1:p.Thr128Met, XP_011518223.1:p.Thr128Met, XP_047282410.1:p.Thr128Met

Select item 145200505518.

rs1452005055 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:26703917 (GRCh38)
11:26725464 (GRCh37)
Canonical SPDI:: NC_000011.10:26703916:C:T
Gene:: SLC5A12 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.26703917C>T, NC_000011.9:g.26725464C>T, NM_178498.4:c.556G>A, NM_178498.3:c.556G>A, XM_006718155.4:c.223G>A, XM_006718155.3:c.223G>A, XM_006718155.2:c.223G>A, XM_006718155.1:c.223G>A, XM_006718156.4:c.556G>A, XM_006718156.3:c.556G>A, XM_006718156.2:c.556G>A, XM_006718156.1:c.556G>A, XM_011519920.3:c.-9G>A, XM_011519920.2:c.-9G>A, XM_011519920.1:c.-9G>A, XM_011519921.3:c.556G>A, XM_011519921.2:c.556G>A, XM_011519921.1:c.556G>A, XM_017017244.2:c.-9G>A, XM_017017244.1:c.-9G>A, NM_001042366.2:c.556G>A, NM_001042366.1:c.556G>A, XM_047426454.1:c.556G>A, NP_848593.2:p.Ala186Thr, XP_006718218.1:p.Ala75Thr, XP_006718219.1:p.Ala186Thr, XP_011518223.1:p.Ala186Thr, XP_047282410.1:p.Ala186Thr

Select item 145191749919.

rs1451917499 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:26697194 (GRCh38)
11:26718741 (GRCh37)
Canonical SPDI:: NC_000011.10:26697193:A:G
Gene:: SLC5A12 (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)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.26697194A>G, NC_000011.9:g.26718741A>G, NM_178498.4:c.1010T>C, NM_178498.3:c.1010T>C, XM_006718155.4:c.677T>C, XM_006718155.3:c.677T>C, XM_006718155.2:c.677T>C, XM_006718155.1:c.677T>C, XM_006718156.4:c.1010T>C, XM_006718156.3:c.1010T>C, XM_006718156.2:c.1010T>C, XM_006718156.1:c.1010T>C, XM_011519920.3:c.446T>C, XM_011519920.2:c.446T>C, XM_011519920.1:c.446T>C, XM_011519921.3:c.1010T>C, XM_011519921.2:c.1010T>C, XM_011519921.1:c.1010T>C, XM_017017244.2:c.446T>C, XM_017017244.1:c.446T>C, NM_001042366.2:c.1010T>C, NM_001042366.1:c.1010T>C, XM_047426454.1:c.1010T>C, NP_848593.2:p.Phe337Ser, XP_006718218.1:p.Phe226Ser, XP_006718219.1:p.Phe337Ser, XP_011518222.1:p.Phe149Ser, XP_011518223.1:p.Phe337Ser, XP_016872733.1:p.Phe149Ser, XP_047282410.1:p.Phe337Ser

Select item 144897153720.

rs1448971537 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGG [Show Flanks]
Chromosome:: 11:26678757 (GRCh38)
11:26700305 (GRCh37)
Canonical SPDI:: NC_000011.10:26678757:G:GTGG
Gene:: SLC5A12 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,inframe_insertion,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: GTGG=0./0 (ALFA)
GTG=0.000019/5 (TOPMED)
HGVS:: NC_000011.10:g.26678758_26678759insTGG, NC_000011.9:g.26700305_26700306insTGG, NM_178498.4:c.1533_1534insCAC, NM_178498.3:c.1533_1534insCAC, XM_006718155.4:c.1200_1201insCAC, XM_006718155.3:c.1200_1201insCAC, XM_006718155.2:c.1200_1201insCAC, XM_006718155.1:c.1200_1201insCAC, XM_011519920.3:c.969_970insCAC, XM_011519920.2:c.969_970insCAC, XM_011519920.1:c.969_970insCAC, XM_017017244.2:c.969_970insCAC, XM_017017244.1:c.969_970insCAC, NM_001042366.2:c.1533_1534insCAC, NM_001042366.1:c.1533_1534insCAC, NP_848593.2:p.Cys512_Leu513insHis, XP_006718218.1:p.Cys401_Leu402insHis, XP_011518222.1:p.Cys324_Leu325insHis, XP_016872733.1:p.Cys324_Leu325insHis

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