SNP Links for Protein (Select 302632535) - SNP

Links from Protein

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Select item 14412113751.

rs1441211375 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:153537401 (GRCh38)
1:153509877 (GRCh37)
Canonical SPDI:: NC_000001.11:153537400:G:A
Gene:: S100A5 (Varview), S100A6 (Varview), LOC124904423 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.153537401G>A, NC_000001.10:g.153509877G>A, XM_017002029.2:c.297C>T, XM_017002029.1:c.297C>T, NM_002962.2:c.174C>T, NM_002962.1:c.174C>T, XM_017002032.2:c.174C>T, XM_017002032.1:c.174C>T, XM_017002031.2:c.174C>T, XM_017002031.1:c.174C>T, XR_007066630.1:n.2978G>A, NM_001394233.1:c.174C>T, NM_001394234.1:c.174C>T, NM_001394232.1:c.174C>T

Select item 14282201192.

rs1428220119 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:153540065 (GRCh38)
1:153512541 (GRCh37)
Canonical SPDI:: NC_000001.11:153540064:A:C
Gene:: S100A5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.153540065A>C, NC_000001.10:g.153512541A>C, XM_017002029.2:c.250T>G, XM_017002029.1:c.250T>G, NM_002962.2:c.127T>G, NM_002962.1:c.127T>G, XM_017002032.2:c.127T>G, XM_017002032.1:c.127T>G, XM_017002031.2:c.127T>G, XM_017002031.1:c.127T>G, NM_001394233.1:c.127T>G, NM_001394234.1:c.127T>G, NM_001394232.1:c.127T>G, XP_016857518.1:p.Cys84Gly, NP_002953.2:p.Cys43Gly, XP_016857521.1:p.Cys43Gly, XP_016857520.1:p.Cys43Gly, NP_001381162.1:p.Cys43Gly, NP_001381163.1:p.Cys43Gly, NP_001381161.1:p.Cys43Gly

Select item 14072518923.

rs1407251892 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:153540095 (GRCh38)
1:153512571 (GRCh37)
Canonical SPDI:: NC_000001.11:153540094:C:A
Gene:: S100A5 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.153540095C>A, NC_000001.10:g.153512571C>A, XM_017002029.2:c.220G>T, XM_017002029.1:c.220G>T, NM_002962.2:c.97G>T, NM_002962.1:c.97G>T, XM_017002032.2:c.97G>T, XM_017002032.1:c.97G>T, XM_017002031.2:c.97G>T, XM_017002031.1:c.97G>T, NM_001394233.1:c.97G>T, NM_001394234.1:c.97G>T, NM_001394232.1:c.97G>T, XP_016857518.1:p.Glu74Ter, NP_002953.2:p.Glu33Ter, XP_016857521.1:p.Glu33Ter, XP_016857520.1:p.Glu33Ter, NP_001381162.1:p.Glu33Ter, NP_001381163.1:p.Glu33Ter, NP_001381161.1:p.Glu33Ter

Select item 13646091964.

rs1364609196 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:153540109 (GRCh38)
1:153512585 (GRCh37)
Canonical SPDI:: NC_000001.11:153540108:G:A
Gene:: S100A5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.153540109G>A, NC_000001.10:g.153512585G>A, XM_017002029.2:c.206C>T, XM_017002029.1:c.206C>T, NM_002962.2:c.83C>T, NM_002962.1:c.83C>T, XM_017002032.2:c.83C>T, XM_017002032.1:c.83C>T, XM_017002031.2:c.83C>T, XM_017002031.1:c.83C>T, NM_001394233.1:c.83C>T, NM_001394234.1:c.83C>T, NM_001394232.1:c.83C>T, XP_016857518.1:p.Thr69Ile, NP_002953.2:p.Thr28Ile, XP_016857521.1:p.Thr28Ile, XP_016857520.1:p.Thr28Ile, NP_001381162.1:p.Thr28Ile, NP_001381163.1:p.Thr28Ile, NP_001381161.1:p.Thr28Ile

Select item 13580685905.

rs1358068590 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:153540127 (GRCh38)
1:153512603 (GRCh37)
Canonical SPDI:: NC_000001.11:153540126:C:G
Gene:: S100A5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.153540127C>G, NC_000001.10:g.153512603C>G, XM_017002029.2:c.188G>C, XM_017002029.1:c.188G>C, NM_002962.2:c.65G>C, NM_002962.1:c.65G>C, XM_017002032.2:c.65G>C, XM_017002032.1:c.65G>C, XM_017002031.2:c.65G>C, XM_017002031.1:c.65G>C, NM_001394233.1:c.65G>C, NM_001394234.1:c.65G>C, NM_001394232.1:c.65G>C, XP_016857518.1:p.Arg63Thr, NP_002953.2:p.Arg22Thr, XP_016857521.1:p.Arg22Thr, XP_016857520.1:p.Arg22Thr, NP_001381162.1:p.Arg22Thr, NP_001381163.1:p.Arg22Thr, NP_001381161.1:p.Arg22Thr

Select item 13460378316.

rs1346037831 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:153537387 (GRCh38)
1:153509863 (GRCh37)
Canonical SPDI:: NC_000001.11:153537386:C:A
Gene:: S100A5 (Varview), S100A6 (Varview), LOC124904423 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.153537387C>A, NC_000001.10:g.153509863C>A, XM_017002029.2:c.311G>T, XM_017002029.1:c.311G>T, NM_002962.2:c.188G>T, NM_002962.1:c.188G>T, XM_017002032.2:c.188G>T, XM_017002032.1:c.188G>T, XM_017002031.2:c.188G>T, XM_017002031.1:c.188G>T, XR_007066630.1:n.2964C>A, NM_001394233.1:c.188G>T, NM_001394234.1:c.188G>T, NM_001394232.1:c.188G>T, XP_016857518.1:p.Ser104Ile, NP_002953.2:p.Ser63Ile, XP_016857521.1:p.Ser63Ile, XP_016857520.1:p.Ser63Ile, NP_001381162.1:p.Ser63Ile, NP_001381163.1:p.Ser63Ile, NP_001381161.1:p.Ser63Ile

Select item 13386302537.

rs1338630253 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:153537374 (GRCh38)
1:153509850 (GRCh37)
Canonical SPDI:: NC_000001.11:153537373:G:A,NC_000001.11:153537373:G:T
Gene:: S100A5 (Varview), S100A6 (Varview), LOC124904423 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000001.11:g.153537374G>A, NC_000001.11:g.153537374G>T, NC_000001.10:g.153509850G>A, NC_000001.10:g.153509850G>T, XM_017002029.2:c.324C>T, XM_017002029.2:c.324C>A, XM_017002029.1:c.324C>T, XM_017002029.1:c.324C>A, NM_002962.2:c.201C>T, NM_002962.2:c.201C>A, NM_002962.1:c.201C>T, NM_002962.1:c.201C>A, XM_017002032.2:c.201C>T, XM_017002032.2:c.201C>A, XM_017002032.1:c.201C>T, XM_017002032.1:c.201C>A, XM_017002031.2:c.201C>T, XM_017002031.2:c.201C>A, XM_017002031.1:c.201C>T, XM_017002031.1:c.201C>A, XR_007066630.1:n.2951G>A, XR_007066630.1:n.2951G>T, NM_001394233.1:c.201C>T, NM_001394233.1:c.201C>A, NM_001394234.1:c.201C>T, NM_001394234.1:c.201C>A, NM_001394232.1:c.201C>T, NM_001394232.1:c.201C>A

Select item 13266897798.

rs1326689779 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:153540105 (GRCh38)
1:153512581 (GRCh37)
Canonical SPDI:: NC_000001.11:153540104:C:T
Gene:: S100A5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.153540105C>T, NC_000001.10:g.153512581C>T, XM_017002029.2:c.210G>A, XM_017002029.1:c.210G>A, NM_002962.2:c.87G>A, NM_002962.1:c.87G>A, XM_017002032.2:c.87G>A, XM_017002032.1:c.87G>A, XM_017002031.2:c.87G>A, XM_017002031.1:c.87G>A, NM_001394233.1:c.87G>A, NM_001394234.1:c.87G>A, NM_001394232.1:c.87G>A

Select item 13225713149.

rs1322571314 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:153540157 (GRCh38)
1:153512633 (GRCh37)
Canonical SPDI:: NC_000001.11:153540156:A:G
Gene:: S100A5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000045/2 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.153540157A>G, NC_000001.10:g.153512633A>G, XM_017002029.2:c.158T>C, XM_017002029.1:c.158T>C, NM_002962.2:c.35T>C, NM_002962.1:c.35T>C, XM_017002032.2:c.35T>C, XM_017002032.1:c.35T>C, XM_017002031.2:c.35T>C, XM_017002031.1:c.35T>C, NM_001394233.1:c.35T>C, NM_001394234.1:c.35T>C, NM_001394232.1:c.35T>C, XP_016857518.1:p.Met53Thr, NP_002953.2:p.Met12Thr, XP_016857521.1:p.Met12Thr, XP_016857520.1:p.Met12Thr, NP_001381162.1:p.Met12Thr, NP_001381163.1:p.Met12Thr, NP_001381161.1:p.Met12Thr

Select item 131798040710.

rs1317980407 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:153537305 (GRCh38)
1:153509781 (GRCh37)
Canonical SPDI:: NC_000001.11:153537304:G:A
Gene:: S100A5 (Varview), S100A6 (Varview), LOC124904423 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_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)
HGVS:: NC_000001.11:g.153537305G>A, NC_000001.10:g.153509781G>A, XM_017002029.2:c.393C>T, XM_017002029.1:c.393C>T, NM_002962.2:c.270C>T, NM_002962.1:c.270C>T, XM_017002032.2:c.270C>T, XM_017002032.1:c.270C>T, XM_017002031.2:c.270C>T, XM_017002031.1:c.270C>T, XR_007066630.1:n.2882G>A, NM_001394233.1:c.270C>T, NM_001394234.1:c.270C>T, NM_001394232.1:c.270C>T

Select item 130023048711.

rs1300230487 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 1:153537305 (GRCh38)
1:153509781 (GRCh37)
Canonical SPDI:: NC_000001.11:153537303:TGT:T
Gene:: S100A5 (Varview), S100A6 (Varview), LOC124904423 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.153537305_153537306del, NC_000001.10:g.153509781_153509782del, XM_017002029.2:c.393_394del, XM_017002029.1:c.393_394del, NM_002962.2:c.270_271del, NM_002962.1:c.270_271del, XM_017002032.2:c.270_271del, XM_017002032.1:c.270_271del, XM_017002031.2:c.270_271del, XM_017002031.1:c.270_271del, XR_007066630.1:n.2882_2883del, NM_001394233.1:c.270_271del, NM_001394234.1:c.270_271del, NM_001394232.1:c.270_271del, XP_016857518.1:p.Asp131fs, NP_002953.2:p.Asp90fs, XP_016857521.1:p.Asp90fs, XP_016857520.1:p.Asp90fs, NP_001381162.1:p.Asp90fs, NP_001381163.1:p.Asp90fs, NP_001381161.1:p.Asp90fs

Select item 128574175312.

rs1285741753 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:153540068 (GRCh38)
1:153512544 (GRCh37)
Canonical SPDI:: NC_000001.11:153540067:G:A
Gene:: S100A5 (Varview)
Functional Consequence:: synonymous_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_000001.11:g.153540068G>A, NC_000001.10:g.153512544G>A, XM_017002029.2:c.247C>T, XM_017002029.1:c.247C>T, NM_002962.2:c.124C>T, NM_002962.1:c.124C>T, XM_017002032.2:c.124C>T, XM_017002032.1:c.124C>T, XM_017002031.2:c.124C>T, XM_017002031.1:c.124C>T, NM_001394233.1:c.124C>T, NM_001394234.1:c.124C>T, NM_001394232.1:c.124C>T

Select item 128524224713.

rs1285242247 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:153540059 (GRCh38)
1:153512535 (GRCh37)
Canonical SPDI:: NC_000001.11:153540058:C:T
Gene:: S100A5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.153540059C>T, NC_000001.10:g.153512535C>T, XM_017002029.2:c.256G>A, XM_017002029.1:c.256G>A, NM_002962.2:c.133G>A, NM_002962.1:c.133G>A, XM_017002032.2:c.133G>A, XM_017002032.1:c.133G>A, XM_017002031.2:c.133G>A, XM_017002031.1:c.133G>A, NM_001394233.1:c.133G>A, NM_001394234.1:c.133G>A, NM_001394232.1:c.133G>A, XP_016857518.1:p.Gly86Arg, NP_002953.2:p.Gly45Arg, XP_016857521.1:p.Gly45Arg, XP_016857520.1:p.Gly45Arg, NP_001381162.1:p.Gly45Arg, NP_001381163.1:p.Gly45Arg, NP_001381161.1:p.Gly45Arg

Select item 127792533414.

rs1277925334 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:153537397 (GRCh38)
1:153509873 (GRCh37)
Canonical SPDI:: NC_000001.11:153537396:C:G
Gene:: S100A5 (Varview), S100A6 (Varview), LOC124904423 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.153537397C>G, NC_000001.10:g.153509873C>G, XM_017002029.2:c.301G>C, XM_017002029.1:c.301G>C, NM_002962.2:c.178G>C, NM_002962.1:c.178G>C, XM_017002032.2:c.178G>C, XM_017002032.1:c.178G>C, XM_017002031.2:c.178G>C, XM_017002031.1:c.178G>C, XR_007066630.1:n.2974C>G, NM_001394233.1:c.178G>C, NM_001394234.1:c.178G>C, NM_001394232.1:c.178G>C, XP_016857518.1:p.Asp101His, NP_002953.2:p.Asp60His, XP_016857521.1:p.Asp60His, XP_016857520.1:p.Asp60His, NP_001381162.1:p.Asp60His, NP_001381163.1:p.Asp60His, NP_001381161.1:p.Asp60His

Select item 127675776115.

rs1276757761 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:153540101 (GRCh38)
1:153512577 (GRCh37)
Canonical SPDI:: NC_000001.11:153540100:T:A
Gene:: S100A5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.153540101T>A, NC_000001.10:g.153512577T>A, XM_017002029.2:c.214A>T, XM_017002029.1:c.214A>T, NM_002962.2:c.91A>T, NM_002962.1:c.91A>T, XM_017002032.2:c.91A>T, XM_017002032.1:c.91A>T, XM_017002031.2:c.91A>T, XM_017002031.1:c.91A>T, NM_001394233.1:c.91A>T, NM_001394234.1:c.91A>T, NM_001394232.1:c.91A>T, XP_016857518.1:p.Arg72Trp, NP_002953.2:p.Arg31Trp, XP_016857521.1:p.Arg31Trp, XP_016857520.1:p.Arg31Trp, NP_001381162.1:p.Arg31Trp, NP_001381163.1:p.Arg31Trp, NP_001381161.1:p.Arg31Trp

Select item 124683911716.

rs1246839117 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:153540064 (GRCh38)
1:153512540 (GRCh37)
Canonical SPDI:: NC_000001.11:153540063:C:T
Gene:: S100A5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.153540064C>T, NC_000001.10:g.153512540C>T, XM_017002029.2:c.251G>A, XM_017002029.1:c.251G>A, NM_002962.2:c.128G>A, NM_002962.1:c.128G>A, XM_017002032.2:c.128G>A, XM_017002032.1:c.128G>A, XM_017002031.2:c.128G>A, XM_017002031.1:c.128G>A, NM_001394233.1:c.128G>A, NM_001394234.1:c.128G>A, NM_001394232.1:c.128G>A, XP_016857518.1:p.Cys84Tyr, NP_002953.2:p.Cys43Tyr, XP_016857521.1:p.Cys43Tyr, XP_016857520.1:p.Cys43Tyr, NP_001381162.1:p.Cys43Tyr, NP_001381163.1:p.Cys43Tyr, NP_001381161.1:p.Cys43Tyr

Select item 123747429717.

rs1237474297 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:153537350 (GRCh38)
1:153509826 (GRCh37)
Canonical SPDI:: NC_000001.11:153537349:G:T
Gene:: S100A5 (Varview), S100A6 (Varview), LOC124904423 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000001.11:g.153537350G>T, NC_000001.10:g.153509826G>T, XM_017002029.2:c.348C>A, XM_017002029.1:c.348C>A, NM_002962.2:c.225C>A, NM_002962.1:c.225C>A, XM_017002032.2:c.225C>A, XM_017002032.1:c.225C>A, XM_017002031.2:c.225C>A, XM_017002031.1:c.225C>A, XR_007066630.1:n.2927G>T, NM_001394233.1:c.225C>A, NM_001394234.1:c.225C>A, NM_001394232.1:c.225C>A, XP_016857518.1:p.Phe116Leu, NP_002953.2:p.Phe75Leu, XP_016857521.1:p.Phe75Leu, XP_016857520.1:p.Phe75Leu, NP_001381162.1:p.Phe75Leu, NP_001381163.1:p.Phe75Leu, NP_001381161.1:p.Phe75Leu

Select item 123427412018.

rs1234274120 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:153540184 (GRCh38)
1:153512660 (GRCh37)
Canonical SPDI:: NC_000001.11:153540183:G:A
Gene:: S100A5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.153540184G>A, NC_000001.10:g.153512660G>A, XM_017002029.2:c.131C>T, XM_017002029.1:c.131C>T, NM_002962.2:c.8C>T, NM_002962.1:c.8C>T, XM_017002032.2:c.8C>T, XM_017002032.1:c.8C>T, XM_017002031.2:c.8C>T, XM_017002031.1:c.8C>T, NM_001394233.1:c.8C>T, NM_001394234.1:c.8C>T, NM_001394232.1:c.8C>T, XP_016857518.1:p.Thr44Ile, NP_002953.2:p.Thr3Ile, XP_016857521.1:p.Thr3Ile, XP_016857520.1:p.Thr3Ile, NP_001381162.1:p.Thr3Ile, NP_001381163.1:p.Thr3Ile, NP_001381161.1:p.Thr3Ile

Select item 121970421919.

rs1219704219 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:153537398 (GRCh38)
1:153509874 (GRCh37)
Canonical SPDI:: NC_000001.11:153537397:C:T
Gene:: S100A5 (Varview), S100A6 (Varview), LOC124904423 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,2KB_upstream_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0./0 (KOREAN)
T=0.0005/1 (Korea1K)
HGVS:: NC_000001.11:g.153537398C>T, NC_000001.10:g.153509874C>T, XM_017002029.2:c.300G>A, XM_017002029.1:c.300G>A, NM_002962.2:c.177G>A, NM_002962.1:c.177G>A, XM_017002032.2:c.177G>A, XM_017002032.1:c.177G>A, XM_017002031.2:c.177G>A, XM_017002031.1:c.177G>A, XR_007066630.1:n.2975C>T, NM_001394233.1:c.177G>A, NM_001394234.1:c.177G>A, NM_001394232.1:c.177G>A

Select item 121956549320.

rs1219565493 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:153537362 (GRCh38)
1:153509838 (GRCh37)
Canonical SPDI:: NC_000001.11:153537361:C:T
Gene:: S100A5 (Varview), S100A6 (Varview), LOC124904423 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,2KB_upstream_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.153537362C>T, NC_000001.10:g.153509838C>T, XM_017002029.2:c.336G>A, XM_017002029.1:c.336G>A, NM_002962.2:c.213G>A, NM_002962.1:c.213G>A, XM_017002032.2:c.213G>A, XM_017002032.1:c.213G>A, XM_017002031.2:c.213G>A, XM_017002031.1:c.213G>A, XR_007066630.1:n.2939C>T, NM_001394233.1:c.213G>A, NM_001394234.1:c.213G>A, NM_001394232.1:c.213G>A

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