SNP Links for Protein (Select 338968862) - SNP

Select item 14874636461.

rs1487463646 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 13:77763191 (GRCh38)
13:78337326 (GRCh37)
Canonical SPDI:: NC_000013.11:77763190:G:T
Gene:: SLAIN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.77763191G>T, NC_000013.10:g.78337326G>T, NM_001040153.4:c.1252G>T, NM_001040153.3:c.1252G>T, NM_144595.4:c.889G>T, NM_144595.3:c.889G>T, NM_001242868.2:c.1744G>T, NM_001242868.1:c.1744G>T, NM_001242871.2:c.886G>T, NM_001242871.1:c.886G>T, NM_001242869.2:c.547G>T, NM_001242869.1:c.547G>T, NM_001242870.2:c.547G>T, NM_001242870.1:c.547G>T, XM_047430095.1:c.1894G>T, NM_001411026.1:c.1894G>T, NM_001366665.1:c.1402G>T, NM_001366666.1:c.889G>T, NP_001035243.2:p.Asp418Tyr, NP_653196.1:p.Asp297Tyr, NP_001229797.1:p.Asp582Tyr, NP_001229800.1:p.Asp296Tyr, NP_001229798.1:p.Asp183Tyr, NP_001229799.1:p.Asp183Tyr, XP_047286051.1:p.Asp632Tyr, NP_001353594.1:p.Asp468Tyr, NP_001353595.1:p.Asp297Tyr

Select item 14868640592.

rs1486864059 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:77760989 (GRCh38)
13:78335124 (GRCh37)
Canonical SPDI:: NC_000013.11:77760988:A:G
Gene:: SLAIN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.77760989A>G, NC_000013.10:g.78335124A>G, NM_001040153.4:c.1084A>G, NM_001040153.3:c.1084A>G, NM_144595.4:c.721A>G, NM_144595.3:c.721A>G, NM_001242868.2:c.1576A>G, NM_001242868.1:c.1576A>G, NM_001242871.2:c.718A>G, NM_001242871.1:c.718A>G, NM_001242869.2:c.379A>G, NM_001242869.1:c.379A>G, NM_001242870.2:c.379A>G, NM_001242870.1:c.379A>G, XM_047430095.1:c.1726A>G, NM_001411026.1:c.1726A>G, NM_001366665.1:c.1234A>G, NM_001366666.1:c.721A>G, NP_001035243.2:p.Ile362Val, NP_653196.1:p.Ile241Val, NP_001229797.1:p.Ile526Val, NP_001229800.1:p.Ile240Val, NP_001229798.1:p.Ile127Val, NP_001229799.1:p.Ile127Val, XP_047286051.1:p.Ile576Val, NP_001353594.1:p.Ile412Val, NP_001353595.1:p.Ile241Val

Select item 14858909443.

rs1485890944 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 13:77753283 (GRCh38)
13:78327418 (GRCh37)
Canonical SPDI:: NC_000013.11:77753282:A:C
Gene:: SLAIN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.77753283A>C, NC_000013.10:g.78327418A>C, NM_001040153.4:c.847A>C, NM_001040153.3:c.847A>C, NM_144595.4:c.484A>C, NM_144595.3:c.484A>C, NM_001242868.2:c.1339A>C, NM_001242868.1:c.1339A>C, NM_001242871.2:c.481A>C, NM_001242871.1:c.481A>C, NM_001242869.2:c.142A>C, NM_001242869.1:c.142A>C, NM_001242870.2:c.142A>C, NM_001242870.1:c.142A>C, XM_047430095.1:c.1489A>C, NM_001411026.1:c.1489A>C, NM_001366665.1:c.997A>C, NM_001366666.1:c.484A>C, NP_001035243.2:p.Thr283Pro, NP_653196.1:p.Thr162Pro, NP_001229797.1:p.Thr447Pro, NP_001229800.1:p.Thr161Pro, NP_001229798.1:p.Thr48Pro, NP_001229799.1:p.Thr48Pro, XP_047286051.1:p.Thr497Pro, NP_001353594.1:p.Thr333Pro, NP_001353595.1:p.Thr162Pro

Select item 14743410424.

rs1474341042 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:77761009 (GRCh38)
13:78335144 (GRCh37)
Canonical SPDI:: NC_000013.11:77761008:T:C
Gene:: SLAIN1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.77761009T>C, NC_000013.10:g.78335144T>C, NM_001040153.4:c.1104T>C, NM_001040153.3:c.1104T>C, NM_144595.4:c.741T>C, NM_144595.3:c.741T>C, NM_001242868.2:c.1596T>C, NM_001242868.1:c.1596T>C, NM_001242871.2:c.738T>C, NM_001242871.1:c.738T>C, NM_001242869.2:c.399T>C, NM_001242869.1:c.399T>C, NM_001242870.2:c.399T>C, NM_001242870.1:c.399T>C, XM_047430095.1:c.1746T>C, NM_001411026.1:c.1746T>C, NM_001366665.1:c.1254T>C, NM_001366666.1:c.741T>C

Select item 14689727355.

rs1468972735 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 13:77763154 (GRCh38)
13:78337289 (GRCh37)
Canonical SPDI:: NC_000013.11:77763153:G:T
Gene:: SLAIN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.77763154G>T, NC_000013.10:g.78337289G>T, NM_001040153.4:c.1215G>T, NM_001040153.3:c.1215G>T, NM_144595.4:c.852G>T, NM_144595.3:c.852G>T, NM_001242868.2:c.1707G>T, NM_001242868.1:c.1707G>T, NM_001242871.2:c.849G>T, NM_001242871.1:c.849G>T, NM_001242869.2:c.510G>T, NM_001242869.1:c.510G>T, NM_001242870.2:c.510G>T, NM_001242870.1:c.510G>T, XM_047430095.1:c.1857G>T, NM_001411026.1:c.1857G>T, NM_001366665.1:c.1365G>T, NM_001366666.1:c.852G>T, NP_001035243.2:p.Gln405His, NP_653196.1:p.Gln284His, NP_001229797.1:p.Gln569His, NP_001229800.1:p.Gln283His, NP_001229798.1:p.Gln170His, NP_001229799.1:p.Gln170His, XP_047286051.1:p.Gln619His, NP_001353594.1:p.Gln455His, NP_001353595.1:p.Gln284His

Select item 14632009086.

rs1463200908 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:77760833 (GRCh38)
13:78334968 (GRCh37)
Canonical SPDI:: NC_000013.11:77760832:T:C
Gene:: SLAIN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.77760833T>C, NC_000013.10:g.78334968T>C, NM_001040153.4:c.928T>C, NM_001040153.3:c.928T>C, NM_144595.4:c.565T>C, NM_144595.3:c.565T>C, NM_001242868.2:c.1420T>C, NM_001242868.1:c.1420T>C, NM_001242871.2:c.562T>C, NM_001242871.1:c.562T>C, NM_001242869.2:c.223T>C, NM_001242869.1:c.223T>C, NM_001242870.2:c.223T>C, NM_001242870.1:c.223T>C, XM_047430095.1:c.1570T>C, NM_001411026.1:c.1570T>C, NM_001366665.1:c.1078T>C, NM_001366666.1:c.565T>C, NP_001035243.2:p.Ser310Pro, NP_653196.1:p.Ser189Pro, NP_001229797.1:p.Ser474Pro, NP_001229800.1:p.Ser188Pro, NP_001229798.1:p.Ser75Pro, NP_001229799.1:p.Ser75Pro, XP_047286051.1:p.Ser524Pro, NP_001353594.1:p.Ser360Pro, NP_001353595.1:p.Ser189Pro

Select item 14558654457.

rs1455865445 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:77753328 (GRCh38)
13:78327463 (GRCh37)
Canonical SPDI:: NC_000013.11:77753327:G:A
Gene:: SLAIN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000013.11:g.77753328G>A, NC_000013.10:g.78327463G>A, NM_001040153.4:c.892G>A, NM_001040153.3:c.892G>A, NM_144595.4:c.529G>A, NM_144595.3:c.529G>A, NM_001242868.2:c.1384G>A, NM_001242868.1:c.1384G>A, NM_001242871.2:c.526G>A, NM_001242871.1:c.526G>A, NM_001242869.2:c.187G>A, NM_001242869.1:c.187G>A, NM_001242870.2:c.187G>A, NM_001242870.1:c.187G>A, XM_047430095.1:c.1534G>A, NM_001411026.1:c.1534G>A, NM_001366665.1:c.1042G>A, NM_001366666.1:c.529G>A, NP_001035243.2:p.Gly298Arg, NP_653196.1:p.Gly177Arg, NP_001229797.1:p.Gly462Arg, NP_001229800.1:p.Gly176Arg, NP_001229798.1:p.Gly63Arg, NP_001229799.1:p.Gly63Arg, XP_047286051.1:p.Gly512Arg, NP_001353594.1:p.Gly348Arg, NP_001353595.1:p.Gly177Arg

Select item 14364239138.

rs1436423913 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:77763189 (GRCh38)
13:78337324 (GRCh37)
Canonical SPDI:: NC_000013.11:77763188:G:A
Gene:: SLAIN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000013.11:g.77763189G>A, NC_000013.10:g.78337324G>A, NM_001040153.4:c.1250G>A, NM_001040153.3:c.1250G>A, NM_144595.4:c.887G>A, NM_144595.3:c.887G>A, NM_001242868.2:c.1742G>A, NM_001242868.1:c.1742G>A, NM_001242871.2:c.884G>A, NM_001242871.1:c.884G>A, NM_001242869.2:c.545G>A, NM_001242869.1:c.545G>A, NM_001242870.2:c.545G>A, NM_001242870.1:c.545G>A, XM_047430095.1:c.1892G>A, NM_001411026.1:c.1892G>A, NM_001366665.1:c.1400G>A, NM_001366666.1:c.887G>A, NP_001035243.2:p.Arg417Lys, NP_653196.1:p.Arg296Lys, NP_001229797.1:p.Arg581Lys, NP_001229800.1:p.Arg295Lys, NP_001229798.1:p.Arg182Lys, NP_001229799.1:p.Arg182Lys, XP_047286051.1:p.Arg631Lys, NP_001353594.1:p.Arg467Lys, NP_001353595.1:p.Arg296Lys

Select item 14362610149.

rs1436261014 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 13:77763182 (GRCh38)
13:78337317 (GRCh37)
Canonical SPDI:: NC_000013.11:77763181:A:C,NC_000013.11:77763181:A:G
Gene:: SLAIN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.77763182A>C, NC_000013.11:g.77763182A>G, NC_000013.10:g.78337317A>C, NC_000013.10:g.78337317A>G, NM_001040153.4:c.1243A>C, NM_001040153.4:c.1243A>G, NM_001040153.3:c.1243A>C, NM_001040153.3:c.1243A>G, NM_144595.4:c.880A>C, NM_144595.4:c.880A>G, NM_144595.3:c.880A>C, NM_144595.3:c.880A>G, NM_001242868.2:c.1735A>C, NM_001242868.2:c.1735A>G, NM_001242868.1:c.1735A>C, NM_001242868.1:c.1735A>G, NM_001242871.2:c.877A>C, NM_001242871.2:c.877A>G, NM_001242871.1:c.877A>C, NM_001242871.1:c.877A>G, NM_001242869.2:c.538A>C, NM_001242869.2:c.538A>G, NM_001242869.1:c.538A>C, NM_001242869.1:c.538A>G, NM_001242870.2:c.538A>C, NM_001242870.2:c.538A>G, NM_001242870.1:c.538A>C, NM_001242870.1:c.538A>G, XM_047430095.1:c.1885A>C, XM_047430095.1:c.1885A>G, NM_001411026.1:c.1885A>C, NM_001411026.1:c.1885A>G, NM_001366665.1:c.1393A>C, NM_001366665.1:c.1393A>G, NM_001366666.1:c.880A>C, NM_001366666.1:c.880A>G, NP_001035243.2:p.Thr415Pro, NP_001035243.2:p.Thr415Ala, NP_653196.1:p.Thr294Pro, NP_653196.1:p.Thr294Ala, NP_001229797.1:p.Thr579Pro, NP_001229797.1:p.Thr579Ala, NP_001229800.1:p.Thr293Pro, NP_001229800.1:p.Thr293Ala, NP_001229798.1:p.Thr180Pro, NP_001229798.1:p.Thr180Ala, NP_001229799.1:p.Thr180Pro, NP_001229799.1:p.Thr180Ala, XP_047286051.1:p.Thr629Pro, XP_047286051.1:p.Thr629Ala, NP_001353594.1:p.Thr465Pro, NP_001353594.1:p.Thr465Ala, NP_001353595.1:p.Thr294Pro, NP_001353595.1:p.Thr294Ala

Select item 142210448710.

rs1422104487 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:77760997 (GRCh38)
13:78335132 (GRCh37)
Canonical SPDI:: NC_000013.11:77760996:A:G
Gene:: SLAIN1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000013.11:g.77760997A>G, NC_000013.10:g.78335132A>G, NM_001040153.4:c.1092A>G, NM_001040153.3:c.1092A>G, NM_144595.4:c.729A>G, NM_144595.3:c.729A>G, NM_001242868.2:c.1584A>G, NM_001242868.1:c.1584A>G, NM_001242871.2:c.726A>G, NM_001242871.1:c.726A>G, NM_001242869.2:c.387A>G, NM_001242869.1:c.387A>G, NM_001242870.2:c.387A>G, NM_001242870.1:c.387A>G, XM_047430095.1:c.1734A>G, NM_001411026.1:c.1734A>G, NM_001366665.1:c.1242A>G, NM_001366666.1:c.729A>G

Select item 141734409411.

rs1417344094 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 13:77760925 (GRCh38)
13:78335060 (GRCh37)
Canonical SPDI:: NC_000013.11:77760924:A:T
Gene:: SLAIN1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.00002/5 (GnomAD_exomes)
T=0.000029/4 (GnomAD)
T=0.000045/12 (TOPMED)
HGVS:: NC_000013.11:g.77760925A>T, NC_000013.10:g.78335060A>T, NM_001040153.4:c.1020A>T, NM_001040153.3:c.1020A>T, NM_144595.4:c.657A>T, NM_144595.3:c.657A>T, NM_001242868.2:c.1512A>T, NM_001242868.1:c.1512A>T, NM_001242871.2:c.654A>T, NM_001242871.1:c.654A>T, NM_001242869.2:c.315A>T, NM_001242869.1:c.315A>T, NM_001242870.2:c.315A>T, NM_001242870.1:c.315A>T, XM_047430095.1:c.1662A>T, NM_001411026.1:c.1662A>T, NM_001366665.1:c.1170A>T, NM_001366666.1:c.657A>T

Select item 141455580512.

rs1414555805 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:77753299 (GRCh38)
13:78327434 (GRCh37)
Canonical SPDI:: NC_000013.11:77753298:A:G
Gene:: SLAIN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.77753299A>G, NC_000013.10:g.78327434A>G, NM_001040153.4:c.863A>G, NM_001040153.3:c.863A>G, NM_144595.4:c.500A>G, NM_144595.3:c.500A>G, NM_001242868.2:c.1355A>G, NM_001242868.1:c.1355A>G, NM_001242871.2:c.497A>G, NM_001242871.1:c.497A>G, NM_001242869.2:c.158A>G, NM_001242869.1:c.158A>G, NM_001242870.2:c.158A>G, NM_001242870.1:c.158A>G, XM_047430095.1:c.1505A>G, NM_001411026.1:c.1505A>G, NM_001366665.1:c.1013A>G, NM_001366666.1:c.500A>G, NP_001035243.2:p.Gln288Arg, NP_653196.1:p.Gln167Arg, NP_001229797.1:p.Gln452Arg, NP_001229800.1:p.Gln166Arg, NP_001229798.1:p.Gln53Arg, NP_001229799.1:p.Gln53Arg, XP_047286051.1:p.Gln502Arg, NP_001353594.1:p.Gln338Arg, NP_001353595.1:p.Gln167Arg

Select item 141084485413.

rs1410844854 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 13:77744389 (GRCh38)
13:78318524 (GRCh37)
Canonical SPDI:: NC_000013.11:77744388:G:A,NC_000013.11:77744388:G:C
Gene:: SLAIN1 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.77744389G>A, NC_000013.11:g.77744389G>C, NC_000013.10:g.78318524G>A, NC_000013.10:g.78318524G>C, NM_001040153.4:c.381G>A, NM_001040153.4:c.381G>C, NM_001040153.3:c.381G>A, NM_001040153.3:c.381G>C, NM_144595.4:c.18G>A, NM_144595.4:c.18G>C, NM_144595.3:c.18G>A, NM_144595.3:c.18G>C, NM_001242868.2:c.873G>A, NM_001242868.2:c.873G>C, NM_001242868.1:c.873G>A, NM_001242868.1:c.873G>C, NM_001242871.2:c.-70G>A, NM_001242871.2:c.-70G>C, NM_001242871.1:c.-70G>A, NM_001242871.1:c.-70G>C, NM_001242869.2:c.18G>A, NM_001242869.2:c.18G>C, NM_001242869.1:c.18G>A, NM_001242869.1:c.18G>C, NM_001242870.2:c.18G>A, NM_001242870.2:c.18G>C, NM_001242870.1:c.18G>A, NM_001242870.1:c.18G>C, XM_047430095.1:c.1023G>A, XM_047430095.1:c.1023G>C, NM_001411026.1:c.1023G>A, NM_001411026.1:c.1023G>C, NM_001366665.1:c.531G>A, NM_001366665.1:c.531G>C, NM_001366666.1:c.18G>A, NM_001366666.1:c.18G>C, NP_001035243.2:p.Gln127His, NP_653196.1:p.Gln6His, NP_001229797.1:p.Gln291His, NP_001229798.1:p.Gln6His, NP_001229799.1:p.Gln6His, XP_047286051.1:p.Gln341His, NP_001353594.1:p.Gln177His, NP_001353595.1:p.Gln6His

Select item 139469474714.

rs1394694747 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:77760832 (GRCh38)
13:78334967 (GRCh37)
Canonical SPDI:: NC_000013.11:77760831:A:G
Gene:: SLAIN1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000013.11:g.77760832A>G, NC_000013.10:g.78334967A>G, NM_001040153.4:c.927A>G, NM_001040153.3:c.927A>G, NM_144595.4:c.564A>G, NM_144595.3:c.564A>G, NM_001242868.2:c.1419A>G, NM_001242868.1:c.1419A>G, NM_001242871.2:c.561A>G, NM_001242871.1:c.561A>G, NM_001242869.2:c.222A>G, NM_001242869.1:c.222A>G, NM_001242870.2:c.222A>G, NM_001242870.1:c.222A>G, XM_047430095.1:c.1569A>G, NM_001411026.1:c.1569A>G, NM_001366665.1:c.1077A>G, NM_001366666.1:c.564A>G

Select item 139447093615.

rs1394470936 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCAG>- [Show Flanks]
Chromosome:: 13:77753297 (GRCh38)
13:78327432 (GRCh37)
Canonical SPDI:: NC_000013.11:77753294:AGTCAG:AG
Gene:: SLAIN1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: AG=0./0 (ALFA)
HGVS:: NC_000013.11:g.77753297_77753300del, NC_000013.10:g.78327432_78327435del, NM_001040153.4:c.861_864del, NM_001040153.3:c.861_864del, NM_144595.4:c.498_501del, NM_144595.3:c.498_501del, NM_001242868.2:c.1353_1356del, NM_001242868.1:c.1353_1356del, NM_001242871.2:c.495_498del, NM_001242871.1:c.495_498del, NM_001242869.2:c.156_159del, NM_001242869.1:c.156_159del, NM_001242870.2:c.156_159del, NM_001242870.1:c.156_159del, XM_047430095.1:c.1503_1506del, NM_001411026.1:c.1503_1506del, NM_001366665.1:c.1011_1014del, NM_001366666.1:c.498_501del, NP_001035243.2:p.Ser287fs, NP_653196.1:p.Ser166fs, NP_001229797.1:p.Ser451fs, NP_001229800.1:p.Ser165fs, NP_001229798.1:p.Ser52fs, NP_001229799.1:p.Ser52fs, XP_047286051.1:p.Ser501fs, NP_001353594.1:p.Ser337fs, NP_001353595.1:p.Ser166fs

Select item 138712024216.

rs1387120242 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:77760936 (GRCh38)
13:78335071 (GRCh37)
Canonical SPDI:: NC_000013.11:77760935:G:A
Gene:: SLAIN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000013.11:g.77760936G>A, NC_000013.10:g.78335071G>A, NM_001040153.4:c.1031G>A, NM_001040153.3:c.1031G>A, NM_144595.4:c.668G>A, NM_144595.3:c.668G>A, NM_001242868.2:c.1523G>A, NM_001242868.1:c.1523G>A, NM_001242871.2:c.665G>A, NM_001242871.1:c.665G>A, NM_001242869.2:c.326G>A, NM_001242869.1:c.326G>A, NM_001242870.2:c.326G>A, NM_001242870.1:c.326G>A, XM_047430095.1:c.1673G>A, NM_001411026.1:c.1673G>A, NM_001366665.1:c.1181G>A, NM_001366666.1:c.668G>A, NP_001035243.2:p.Gly344Asp, NP_653196.1:p.Gly223Asp, NP_001229797.1:p.Gly508Asp, NP_001229800.1:p.Gly222Asp, NP_001229798.1:p.Gly109Asp, NP_001229799.1:p.Gly109Asp, XP_047286051.1:p.Gly558Asp, NP_001353594.1:p.Gly394Asp, NP_001353595.1:p.Gly223Asp

Select item 137178758217.

rs1371787582 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:77753211 (GRCh38)
13:78327346 (GRCh37)
Canonical SPDI:: NC_000013.11:77753210:C:T
Gene:: SLAIN1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.77753211C>T, NC_000013.10:g.78327346C>T, NM_001040153.4:c.775C>T, NM_001040153.3:c.775C>T, NM_144595.4:c.412C>T, NM_144595.3:c.412C>T, NM_001242868.2:c.1267C>T, NM_001242868.1:c.1267C>T, NM_001242871.2:c.409C>T, NM_001242871.1:c.409C>T, NM_001242869.2:c.70C>T, NM_001242869.1:c.70C>T, NM_001242870.2:c.70C>T, NM_001242870.1:c.70C>T, XM_047430095.1:c.1417C>T, NM_001411026.1:c.1417C>T, NM_001366665.1:c.925C>T, NM_001366666.1:c.412C>T, NP_001035243.2:p.Arg259Ter, NP_653196.1:p.Arg138Ter, NP_001229797.1:p.Arg423Ter, NP_001229800.1:p.Arg137Ter, NP_001229798.1:p.Arg24Ter, NP_001229799.1:p.Arg24Ter, XP_047286051.1:p.Arg473Ter, NP_001353594.1:p.Arg309Ter, NP_001353595.1:p.Arg138Ter

Select item 136442575518.

rs1364425755 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 13:77761013 (GRCh38)
13:78335148 (GRCh37)
Canonical SPDI:: NC_000013.11:77761012:G:A,NC_000013.11:77761012:G:T
Gene:: SLAIN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000029/4 (GnomAD)
HGVS:: NC_000013.11:g.77761013G>A, NC_000013.11:g.77761013G>T, NC_000013.10:g.78335148G>A, NC_000013.10:g.78335148G>T, NM_001040153.4:c.1108G>A, NM_001040153.4:c.1108G>T, NM_001040153.3:c.1108G>A, NM_001040153.3:c.1108G>T, NM_144595.4:c.745G>A, NM_144595.4:c.745G>T, NM_144595.3:c.745G>A, NM_144595.3:c.745G>T, NM_001242868.2:c.1600G>A, NM_001242868.2:c.1600G>T, NM_001242868.1:c.1600G>A, NM_001242868.1:c.1600G>T, NM_001242871.2:c.742G>A, NM_001242871.2:c.742G>T, NM_001242871.1:c.742G>A, NM_001242871.1:c.742G>T, NM_001242869.2:c.403G>A, NM_001242869.2:c.403G>T, NM_001242869.1:c.403G>A, NM_001242869.1:c.403G>T, NM_001242870.2:c.403G>A, NM_001242870.2:c.403G>T, NM_001242870.1:c.403G>A, NM_001242870.1:c.403G>T, XM_047430095.1:c.1750G>A, XM_047430095.1:c.1750G>T, NM_001411026.1:c.1750G>A, NM_001411026.1:c.1750G>T, NM_001366665.1:c.1258G>A, NM_001366665.1:c.1258G>T, NM_001366666.1:c.745G>A, NM_001366666.1:c.745G>T, NP_001035243.2:p.Ala370Thr, NP_001035243.2:p.Ala370Ser, NP_653196.1:p.Ala249Thr, NP_653196.1:p.Ala249Ser, NP_001229797.1:p.Ala534Thr, NP_001229797.1:p.Ala534Ser, NP_001229800.1:p.Ala248Thr, NP_001229800.1:p.Ala248Ser, NP_001229798.1:p.Ala135Thr, NP_001229798.1:p.Ala135Ser, NP_001229799.1:p.Ala135Thr, NP_001229799.1:p.Ala135Ser, XP_047286051.1:p.Ala584Thr, XP_047286051.1:p.Ala584Ser, NP_001353594.1:p.Ala420Thr, NP_001353594.1:p.Ala420Ser, NP_001353595.1:p.Ala249Thr, NP_001353595.1:p.Ala249Ser

Select item 135653473919.

rs1356534739 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:77753236 (GRCh38)
13:78327371 (GRCh37)
Canonical SPDI:: NC_000013.11:77753235:G:A
Gene:: SLAIN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000013.11:g.77753236G>A, NC_000013.10:g.78327371G>A, NM_001040153.4:c.800G>A, NM_001040153.3:c.800G>A, NM_144595.4:c.437G>A, NM_144595.3:c.437G>A, NM_001242868.2:c.1292G>A, NM_001242868.1:c.1292G>A, NM_001242871.2:c.434G>A, NM_001242871.1:c.434G>A, NM_001242869.2:c.95G>A, NM_001242869.1:c.95G>A, NM_001242870.2:c.95G>A, NM_001242870.1:c.95G>A, XM_047430095.1:c.1442G>A, NM_001411026.1:c.1442G>A, NM_001366665.1:c.950G>A, NM_001366666.1:c.437G>A, NP_001035243.2:p.Arg267Gln, NP_653196.1:p.Arg146Gln, NP_001229797.1:p.Arg431Gln, NP_001229800.1:p.Arg145Gln, NP_001229798.1:p.Arg32Gln, NP_001229799.1:p.Arg32Gln, XP_047286051.1:p.Arg481Gln, NP_001353594.1:p.Arg317Gln, NP_001353595.1:p.Arg146Gln

Select item 135262460720.

rs1352624607 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 13:77753307 (GRCh38)
13:78327442 (GRCh37)
Canonical SPDI:: NC_000013.11:77753306:G:C,NC_000013.11:77753306:G:T
Gene:: SLAIN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.77753307G>C, NC_000013.11:g.77753307G>T, NC_000013.10:g.78327442G>C, NC_000013.10:g.78327442G>T, NM_001040153.4:c.871G>C, NM_001040153.4:c.871G>T, NM_001040153.3:c.871G>C, NM_001040153.3:c.871G>T, NM_144595.4:c.508G>C, NM_144595.4:c.508G>T, NM_144595.3:c.508G>C, NM_144595.3:c.508G>T, NM_001242868.2:c.1363G>C, NM_001242868.2:c.1363G>T, NM_001242868.1:c.1363G>C, NM_001242868.1:c.1363G>T, NM_001242871.2:c.505G>C, NM_001242871.2:c.505G>T, NM_001242871.1:c.505G>C, NM_001242871.1:c.505G>T, NM_001242869.2:c.166G>C, NM_001242869.2:c.166G>T, NM_001242869.1:c.166G>C, NM_001242869.1:c.166G>T, NM_001242870.2:c.166G>C, NM_001242870.2:c.166G>T, NM_001242870.1:c.166G>C, NM_001242870.1:c.166G>T, XM_047430095.1:c.1513G>C, XM_047430095.1:c.1513G>T, NM_001411026.1:c.1513G>C, NM_001411026.1:c.1513G>T, NM_001366665.1:c.1021G>C, NM_001366665.1:c.1021G>T, NM_001366666.1:c.508G>C, NM_001366666.1:c.508G>T, NP_001035243.2:p.Asp291His, NP_001035243.2:p.Asp291Tyr, NP_653196.1:p.Asp170His, NP_653196.1:p.Asp170Tyr, NP_001229797.1:p.Asp455His, NP_001229797.1:p.Asp455Tyr, NP_001229800.1:p.Asp169His, NP_001229800.1:p.Asp169Tyr, NP_001229798.1:p.Asp56His, NP_001229798.1:p.Asp56Tyr, NP_001229799.1:p.Asp56His, NP_001229799.1:p.Asp56Tyr, XP_047286051.1:p.Asp505His, XP_047286051.1:p.Asp505Tyr, NP_001353594.1:p.Asp341His, NP_001353594.1:p.Asp341Tyr, NP_001353595.1:p.Asp170His, NP_001353595.1:p.Asp170Tyr

dbSNP

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dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 158

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