SNP Links for Protein (Select 90669931) - SNP - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Protein

Items: 1 to 20 of 575

<< First< Prev

Page of 29

Select item 14886891571.

rs1488689157 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:113350132 (GRCh38)
11:113220854 (GRCh37)
Canonical SPDI:: NC_000011.10:113350131:T:A
Gene:: TTC12 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.113350132T>A, NC_000011.9:g.113220854T>A, NW_003871078.1:g.532858T>A, NM_017868.4:c.1214T>A, NM_017868.3:c.1214T>A, NM_001352038.2:c.764T>A, NR_147891.2:n.1265T>A, NR_147891.1:n.1319T>A, NM_001318533.2:c.1232T>A, NM_001318533.1:c.1232T>A, NM_001352037.2:c.1139T>A, NM_001352037.1:c.1139T>A, NM_001378064.1:c.1214T>A, NM_001352038.1:c.764T>A, NR_165392.1:n.1949T>A, NM_001378065.1:c.1214T>A, NR_165393.1:n.749T>A, NM_001378063.1:c.1217T>A, NP_060338.3:p.Met405Lys, NP_001305462.1:p.Met411Lys, NP_001338966.1:p.Met380Lys, NP_001364993.1:p.Met405Lys, NP_001364994.1:p.Met405Lys, NP_001364992.1:p.Met406Lys

Select item 14857015992.

rs1485701599 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:113344317 (GRCh38)
11:113215039 (GRCh37)
Canonical SPDI:: NC_000011.10:113344316:T:A
Gene:: TTC12 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.113344317T>A, NC_000011.9:g.113215039T>A, NW_003871078.1:g.527043T>A, NM_017868.4:c.1031T>A, NM_017868.3:c.1031T>A, NM_001352038.2:c.581T>A, NR_147891.2:n.1082T>A, NR_147891.1:n.1136T>A, NM_001318533.2:c.1049T>A, NM_001318533.1:c.1049T>A, NM_001352037.2:c.956T>A, NM_001352037.1:c.956T>A, NM_001378064.1:c.1031T>A, NM_001352038.1:c.581T>A, NR_165392.1:n.1766T>A, NM_001378065.1:c.1031T>A, NR_165393.1:n.566T>A, NM_001378063.1:c.1034T>A, NP_060338.3:p.Leu344Gln, NP_001305462.1:p.Leu350Gln, NP_001338966.1:p.Leu319Gln, NP_001364993.1:p.Leu344Gln, NP_001364994.1:p.Leu344Gln, NP_001364992.1:p.Leu345Gln

Select item 14815428373.

rs1481542837 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:113351250 (GRCh38)
11:113221972 (GRCh37)
Canonical SPDI:: NC_000011.10:113351249:G:C
Gene:: TTC12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.113351250G>C, NC_000011.9:g.113221972G>C, NW_003871078.1:g.533976G>C, NM_017868.4:c.1259G>C, NM_017868.3:c.1259G>C, NM_001352038.2:c.809G>C, NR_147891.2:n.1310G>C, NR_147891.1:n.1364G>C, NM_001318533.2:c.1277G>C, NM_001318533.1:c.1277G>C, NM_001352037.2:c.1184G>C, NM_001352037.1:c.1184G>C, NM_001378064.1:c.1259G>C, NM_001352038.1:c.809G>C, NR_165392.1:n.1994G>C, NM_001378065.1:c.1259G>C, NR_165393.1:n.794G>C, NM_001378063.1:c.1262G>C, NP_060338.3:p.Trp420Ser, NP_001305462.1:p.Trp426Ser, NP_001338966.1:p.Trp395Ser, NP_001364993.1:p.Trp420Ser, NP_001364994.1:p.Trp420Ser, NP_001364992.1:p.Trp421Ser

Select item 14788921104.

rs1478892110 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:113323382 (GRCh38)
11:113194104 (GRCh37)
Canonical SPDI:: NC_000011.10:113323381:C:A,NC_000011.10:113323381:C:T
Gene:: TTC12 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000026/7 (TOPMED)
HGVS:: NC_000011.10:g.113323382C>A, NC_000011.10:g.113323382C>T, NC_000011.9:g.113194104C>A, NC_000011.9:g.113194104C>T, NW_003871078.1:g.506108C>A, NW_003871078.1:g.506108C>T, NM_017868.4:c.153C>A, NM_017868.4:c.153C>T, NM_017868.3:c.153C>A, NM_017868.3:c.153C>T, NM_001352038.2:c.-465C>A, NM_001352038.2:c.-465C>T, NR_147891.2:n.204C>A, NR_147891.2:n.204C>T, NR_147891.1:n.258C>A, NR_147891.1:n.258C>T, NM_001318533.2:c.153C>A, NM_001318533.2:c.153C>T, NM_001318533.1:c.153C>A, NM_001318533.1:c.153C>T, NM_001352037.2:c.78C>A, NM_001352037.2:c.78C>T, NM_001352037.1:c.78C>A, NM_001352037.1:c.78C>T, NM_001378064.1:c.153C>A, NM_001378064.1:c.153C>T, NM_001352038.1:c.-465C>A, NM_001352038.1:c.-465C>T, NR_165392.1:n.721C>A, NR_165392.1:n.721C>T, NM_001378065.1:c.153C>A, NM_001378065.1:c.153C>T, NM_001378063.1:c.78C>A, NM_001378063.1:c.78C>T, NP_060338.3:p.Asp51Glu, NP_001305462.1:p.Asp51Glu, NP_001338966.1:p.Asp26Glu, NP_001364993.1:p.Asp51Glu, NP_001364994.1:p.Asp51Glu, NP_001364992.1:p.Asp26Glu

Select item 14788759555.

rs1478875955 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:113340724 (GRCh38)
11:113211446 (GRCh37)
Canonical SPDI:: NC_000011.10:113340723:T:A
Gene:: TTC12 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.113340724T>A, NC_000011.9:g.113211446T>A, NW_003871078.1:g.523450T>A, NM_017868.4:c.887T>A, NM_017868.3:c.887T>A, NM_001352038.2:c.437T>A, NR_147891.2:n.938T>A, NR_147891.1:n.992T>A, NM_001318533.2:c.905T>A, NM_001318533.1:c.905T>A, NM_001352037.2:c.812T>A, NM_001352037.1:c.812T>A, NM_001378064.1:c.887T>A, NM_001352038.1:c.437T>A, NR_165392.1:n.1622T>A, NM_001378065.1:c.887T>A, NM_001378063.1:c.890T>A, NP_060338.3:p.Val296Asp, NP_001305462.1:p.Val302Asp, NP_001338966.1:p.Val271Asp, NP_001364993.1:p.Val296Asp, NP_001364994.1:p.Val296Asp, NP_001364992.1:p.Val297Asp

Select item 14782623476.

rs1478262347 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:113364837 (GRCh38)
11:113235559 (GRCh37)
Canonical SPDI:: NC_000011.10:113364836:T:C
Gene:: TTC12 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.113364837T>C, NC_000011.9:g.113235559T>C, NM_017868.4:c.1819T>C, NM_017868.3:c.1819T>C, NM_001352038.2:c.1369T>C, NR_147891.2:n.1870T>C, NR_147891.1:n.1924T>C, NM_001318533.2:c.1837T>C, NM_001318533.1:c.1837T>C, NM_001352037.2:c.1744T>C, NM_001352037.1:c.1744T>C, NM_001378064.1:c.1819T>C, NM_001352038.1:c.1369T>C, NR_165392.1:n.2554T>C, NM_001378065.1:c.1819T>C, NR_165393.1:n.1354T>C, NM_001378063.1:c.1822T>C

Select item 14766067617.

rs1476606761 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:113363927 (GRCh38)
11:113234649 (GRCh37)
Canonical SPDI:: NC_000011.10:113363926:A:T
Gene:: TTC12 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.113363927A>T, NC_000011.9:g.113234649A>T, NM_017868.4:c.1816A>T, NM_017868.3:c.1816A>T, NM_001352038.2:c.1366A>T, NR_147891.2:n.1867A>T, NR_147891.1:n.1921A>T, NM_001318533.2:c.1834A>T, NM_001318533.1:c.1834A>T, NM_001352037.2:c.1741A>T, NM_001352037.1:c.1741A>T, NM_001378064.1:c.1816A>T, NM_001352038.1:c.1366A>T, NR_165392.1:n.2551A>T, NM_001378065.1:c.1816A>T, NR_165393.1:n.1351A>T, NM_001378063.1:c.1819A>T, NP_060338.3:p.Lys606Ter, NP_001305462.1:p.Lys612Ter, NP_001338966.1:p.Lys581Ter, NP_001364993.1:p.Lys606Ter, NP_001364994.1:p.Lys606Ter, NP_001364992.1:p.Lys607Ter

Select item 14745363348.

rs1474536334 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:113339396 (GRCh38)
11:113210118 (GRCh37)
Canonical SPDI:: NC_000011.10:113339395:G:A
Gene:: TTC12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.113339396G>A, NC_000011.9:g.113210118G>A, NW_003871078.1:g.522122G>A, NM_017868.4:c.748G>A, NM_017868.3:c.748G>A, NM_001352038.2:c.298G>A, NR_147891.2:n.799G>A, NR_147891.1:n.853G>A, NM_001318533.2:c.766G>A, NM_001318533.1:c.766G>A, NM_001352037.2:c.673G>A, NM_001352037.1:c.673G>A, NM_001378064.1:c.748G>A, NM_001352038.1:c.298G>A, NR_165392.1:n.1483G>A, NM_001378065.1:c.748G>A, NR_165393.1:n.353G>A, NM_001378063.1:c.751G>A, NP_060338.3:p.Glu250Lys, NP_001305462.1:p.Glu256Lys, NP_001338966.1:p.Glu225Lys, NP_001364993.1:p.Glu250Lys, NP_001364994.1:p.Glu250Lys, NP_001364992.1:p.Glu251Lys

Select item 14675693709.

rs1467569370 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:113344401 (GRCh38)
11:113215123 (GRCh37)
Canonical SPDI:: NC_000011.10:113344400:G:A
Gene:: TTC12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_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_000011.10:g.113344401G>A, NC_000011.9:g.113215123G>A, NW_003871078.1:g.527127G>A, NM_017868.4:c.1115G>A, NM_017868.3:c.1115G>A, NM_001352038.2:c.665G>A, NR_147891.2:n.1166G>A, NR_147891.1:n.1220G>A, NM_001318533.2:c.1133G>A, NM_001318533.1:c.1133G>A, NM_001352037.2:c.1040G>A, NM_001352037.1:c.1040G>A, NM_001378064.1:c.1115G>A, NM_001352038.1:c.665G>A, NR_165392.1:n.1850G>A, NM_001378065.1:c.1115G>A, NR_165393.1:n.650G>A, NM_001378063.1:c.1118G>A, NP_060338.3:p.Ser372Asn, NP_001305462.1:p.Ser378Asn, NP_001338966.1:p.Ser347Asn, NP_001364993.1:p.Ser372Asn, NP_001364994.1:p.Ser372Asn, NP_001364992.1:p.Ser373Asn

Select item 146637284110.

rs1466372841 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:113364886 (GRCh38)
11:113235608 (GRCh37)
Canonical SPDI:: NC_000011.10:113364885:G:A
Gene:: TTC12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.113364886G>A, NC_000011.9:g.113235608G>A, NM_017868.4:c.1868G>A, NM_017868.3:c.1868G>A, NM_001352038.2:c.1418G>A, NR_147891.2:n.1919G>A, NR_147891.1:n.1973G>A, NM_001318533.2:c.1886G>A, NM_001318533.1:c.1886G>A, NM_001352037.2:c.1793G>A, NM_001352037.1:c.1793G>A, NM_001378064.1:c.1868G>A, NM_001352038.1:c.1418G>A, NR_165392.1:n.2603G>A, NM_001378065.1:c.1868G>A, NR_165393.1:n.1403G>A, NM_001378063.1:c.1871G>A, NP_060338.3:p.Gly623Asp, NP_001305462.1:p.Gly629Asp, NP_001338966.1:p.Gly598Asp, NP_001364993.1:p.Gly623Asp, NP_001364994.1:p.Gly623Asp, NP_001364992.1:p.Gly624Asp

Select item 146535655711.

rs1465356557 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 11:113350085 (GRCh38)
11:113220807 (GRCh37)
Canonical SPDI:: NC_000011.10:113350084:G:A,NC_000011.10:113350084:G:C,NC_000011.10:113350084:G:T
Gene:: TTC12 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000011.10:g.113350085G>A, NC_000011.10:g.113350085G>C, NC_000011.10:g.113350085G>T, NC_000011.9:g.113220807G>A, NC_000011.9:g.113220807G>C, NC_000011.9:g.113220807G>T, NW_003871078.1:g.532811G>A, NW_003871078.1:g.532811G>C, NW_003871078.1:g.532811G>T, NM_017868.4:c.1167G>A, NM_017868.4:c.1167G>C, NM_017868.4:c.1167G>T, NM_017868.3:c.1167G>A, NM_017868.3:c.1167G>C, NM_017868.3:c.1167G>T, NM_001352038.2:c.717G>A, NM_001352038.2:c.717G>C, NM_001352038.2:c.717G>T, NR_147891.2:n.1218G>A, NR_147891.2:n.1218G>C, NR_147891.2:n.1218G>T, NR_147891.1:n.1272G>A, NR_147891.1:n.1272G>C, NR_147891.1:n.1272G>T, NM_001318533.2:c.1185G>A, NM_001318533.2:c.1185G>C, NM_001318533.2:c.1185G>T, NM_001318533.1:c.1185G>A, NM_001318533.1:c.1185G>C, NM_001318533.1:c.1185G>T, NM_001352037.2:c.1092G>A, NM_001352037.2:c.1092G>C, NM_001352037.2:c.1092G>T, NM_001352037.1:c.1092G>A, NM_001352037.1:c.1092G>C, NM_001352037.1:c.1092G>T, NM_001378064.1:c.1167G>A, NM_001378064.1:c.1167G>C, NM_001378064.1:c.1167G>T, NM_001352038.1:c.717G>A, NM_001352038.1:c.717G>C, NM_001352038.1:c.717G>T, NR_165392.1:n.1902G>A, NR_165392.1:n.1902G>C, NR_165392.1:n.1902G>T, NM_001378065.1:c.1167G>A, NM_001378065.1:c.1167G>C, NM_001378065.1:c.1167G>T, NR_165393.1:n.702G>A, NR_165393.1:n.702G>C, NR_165393.1:n.702G>T, NM_001378063.1:c.1170G>A, NM_001378063.1:c.1170G>C, NM_001378063.1:c.1170G>T

Select item 146420503712.

rs1464205037 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:113325595 (GRCh38)
11:113196317 (GRCh37)
Canonical SPDI:: NC_000011.10:113325594:G:T
Gene:: TTC12 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.113325595G>T, NC_000011.9:g.113196317G>T, NW_003871078.1:g.508321G>T, NM_017868.4:c.394G>T, NM_017868.3:c.394G>T, NM_001352038.2:c.-224G>T, NR_147891.2:n.445G>T, NR_147891.1:n.499G>T, NM_001318533.2:c.394G>T, NM_001318533.1:c.394G>T, NM_001352037.2:c.319G>T, NM_001352037.1:c.319G>T, NM_001378064.1:c.394G>T, NM_001352038.1:c.-224G>T, NR_165392.1:n.962G>T, NM_001378065.1:c.394G>T, NM_001378063.1:c.319G>T, NP_060338.3:p.Gly132Cys, NP_001305462.1:p.Gly132Cys, NP_001338966.1:p.Gly107Cys, NP_001364993.1:p.Gly132Cys, NP_001364994.1:p.Gly132Cys, NP_001364992.1:p.Gly107Cys

Select item 146365969613.

rs1463659696 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:113324660 (GRCh38)
11:113195382 (GRCh37)
Canonical SPDI:: NC_000011.10:113324659:G:A
Gene:: TTC12 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.113324660G>A, NC_000011.9:g.113195382G>A, NW_003871078.1:g.507386G>A, NM_017868.4:c.300G>A, NM_017868.3:c.300G>A, NM_001352038.2:c.-318G>A, NR_147891.2:n.351G>A, NR_147891.1:n.405G>A, NM_001318533.2:c.300G>A, NM_001318533.1:c.300G>A, NM_001352037.2:c.225G>A, NM_001352037.1:c.225G>A, NM_001378064.1:c.300G>A, NM_001352038.1:c.-318G>A, NR_165392.1:n.868G>A, NM_001378065.1:c.300G>A, NM_001378063.1:c.225G>A

Select item 146338014614.

rs1463380146 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 11:113362502 (GRCh38)
11:113233224 (GRCh37)
Canonical SPDI:: NC_000011.10:113362501:GG:G,NC_000011.10:113362501:GG:GGG
Gene:: TTC12 (Varview)
Functional Consequence:: coding_sequence_variant,splice_donor_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000019/5 (TOPMED)
-=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.113362503del, NC_000011.10:g.113362503dup, NC_000011.9:g.113233225del, NC_000011.9:g.113233225dup, NW_003871078.1:g.545229del, NW_003871078.1:g.545229dup

Select item 146269851115.

rs1462698511 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:113359439 (GRCh38)
11:113230161 (GRCh37)
Canonical SPDI:: NC_000011.10:113359438:T:C
Gene:: TTC12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.113359439T>C, NC_000011.9:g.113230161T>C, NW_003871078.1:g.542165T>C, NM_017868.4:c.1523T>C, NM_017868.3:c.1523T>C, NM_001352038.2:c.1073T>C, NR_147891.2:n.1574T>C, NR_147891.1:n.1628T>C, NM_001318533.2:c.1541T>C, NM_001318533.1:c.1541T>C, NM_001352037.2:c.1448T>C, NM_001352037.1:c.1448T>C, NM_001378064.1:c.1523T>C, NM_001352038.1:c.1073T>C, NR_165392.1:n.2258T>C, NM_001378065.1:c.1523T>C, NR_165393.1:n.1058T>C, NM_001378063.1:c.1526T>C, NP_060338.3:p.Leu508Pro, NP_001305462.1:p.Leu514Pro, NP_001338966.1:p.Leu483Pro, NP_001364993.1:p.Leu508Pro, NP_001364994.1:p.Leu508Pro, NP_001364992.1:p.Leu509Pro

Select item 146201446716.

rs1462014467 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:113325546 (GRCh38)
11:113196268 (GRCh37)
Canonical SPDI:: NC_000011.10:113325545:A:G
Gene:: TTC12 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.113325546A>G, NC_000011.9:g.113196268A>G, NW_003871078.1:g.508272A>G, NM_017868.4:c.345A>G, NM_017868.3:c.345A>G, NM_001352038.2:c.-273A>G, NR_147891.2:n.396A>G, NR_147891.1:n.450A>G, NM_001318533.2:c.345A>G, NM_001318533.1:c.345A>G, NM_001352037.2:c.270A>G, NM_001352037.1:c.270A>G, NM_001378064.1:c.345A>G, NM_001352038.1:c.-273A>G, NR_165392.1:n.913A>G, NM_001378065.1:c.345A>G, NM_001378063.1:c.270A>G

Select item 146119425517.

rs1461194255 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:113351283 (GRCh38)
11:113222005 (GRCh37)
Canonical SPDI:: NC_000011.10:113351282:C:A
Gene:: TTC12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.113351283C>A, NC_000011.9:g.113222005C>A, NW_003871078.1:g.534009C>A, NM_017868.4:c.1292C>A, NM_017868.3:c.1292C>A, NM_001352038.2:c.842C>A, NR_147891.2:n.1343C>A, NR_147891.1:n.1397C>A, NM_001318533.2:c.1310C>A, NM_001318533.1:c.1310C>A, NM_001352037.2:c.1217C>A, NM_001352037.1:c.1217C>A, NM_001378064.1:c.1292C>A, NM_001352038.1:c.842C>A, NR_165392.1:n.2027C>A, NM_001378065.1:c.1292C>A, NR_165393.1:n.827C>A, NM_001378063.1:c.1295C>A, NP_060338.3:p.Ala431Glu, NP_001305462.1:p.Ala437Glu, NP_001338966.1:p.Ala406Glu, NP_001364993.1:p.Ala431Glu, NP_001364994.1:p.Ala431Glu, NP_001364992.1:p.Ala432Glu

Select item 145963472318.

rs1459634723 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:113335002 (GRCh38)
11:113205724 (GRCh37)
Canonical SPDI:: NC_000011.10:113335001:G:A
Gene:: TTC12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.113335002G>A, NC_000011.9:g.113205724G>A, NW_003871078.1:g.517728G>A, NM_017868.4:c.541G>A, NM_017868.3:c.541G>A, NM_001352038.2:c.91G>A, NR_147891.2:n.592G>A, NR_147891.1:n.646G>A, NM_001318533.2:c.559G>A, NM_001318533.1:c.559G>A, NM_001352037.2:c.466G>A, NM_001352037.1:c.466G>A, NM_001378064.1:c.541G>A, NM_001352038.1:c.91G>A, NR_165392.1:n.1276G>A, NM_001378065.1:c.541G>A, NR_165393.1:n.146G>A, NM_001378063.1:c.466G>A, NP_060338.3:p.Gly181Arg, NP_001305462.1:p.Gly187Arg, NP_001338966.1:p.Gly156Arg, NP_001364993.1:p.Gly181Arg, NP_001364994.1:p.Gly181Arg, NP_001364992.1:p.Gly156Arg

Select item 145723358819.

rs1457233588 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 11:113366284 (GRCh38)
11:113237006 (GRCh37)
Canonical SPDI:: NC_000011.10:113366283:A:G,NC_000011.10:113366283:A:T
Gene:: TTC12 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.113366284A>G, NC_000011.10:g.113366284A>T, NC_000011.9:g.113237006A>G, NC_000011.9:g.113237006A>T, NM_017868.4:c.2102A>G, NM_017868.4:c.2102A>T, NM_017868.3:c.2102A>G, NM_017868.3:c.2102A>T, NM_001352038.2:c.1652A>G, NM_001352038.2:c.1652A>T, NM_001318533.2:c.2120A>G, NM_001318533.2:c.2120A>T, NM_001318533.1:c.2120A>G, NM_001318533.1:c.2120A>T, NM_001352037.2:c.2027A>G, NM_001352037.2:c.2027A>T, NM_001352037.1:c.2027A>G, NM_001352037.1:c.2027A>T, NM_001378064.1:c.2102A>G, NM_001378064.1:c.2102A>T, NM_001352038.1:c.1652A>G, NM_001352038.1:c.1652A>T, NR_165392.1:n.2837A>G, NR_165392.1:n.2837A>T, NM_001378065.1:c.2102A>G, NM_001378065.1:c.2102A>T, NM_001378063.1:c.2105A>G, NM_001378063.1:c.2105A>T, NP_060338.3:p.Tyr701Cys, NP_060338.3:p.Tyr701Phe, NP_001305462.1:p.Tyr707Cys, NP_001305462.1:p.Tyr707Phe, NP_001338966.1:p.Tyr676Cys, NP_001338966.1:p.Tyr676Phe, NP_001364993.1:p.Tyr701Cys, NP_001364993.1:p.Tyr701Phe, NP_001364994.1:p.Tyr701Cys, NP_001364994.1:p.Tyr701Phe, NP_001364992.1:p.Tyr702Cys, NP_001364992.1:p.Tyr702Phe

Select item 145708280120.

rs1457082801 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:113341874 (GRCh38)
11:113212596 (GRCh37)
Canonical SPDI:: NC_000011.10:113341873:A:G
Gene:: TTC12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.113341874A>G, NC_000011.9:g.113212596A>G, NW_003871078.1:g.524600A>G, NM_017868.4:c.934A>G, NM_017868.3:c.934A>G, NM_001352038.2:c.484A>G, NR_147891.2:n.985A>G, NR_147891.1:n.1039A>G, NM_001318533.2:c.952A>G, NM_001318533.1:c.952A>G, NM_001352037.2:c.859A>G, NM_001352037.1:c.859A>G, NM_001378064.1:c.934A>G, NM_001352038.1:c.484A>G, NR_165392.1:n.1669A>G, NM_001378065.1:c.934A>G, NR_165393.1:n.469A>G, NM_001378063.1:c.937A>G, NP_060338.3:p.Met312Val, NP_001305462.1:p.Met318Val, NP_001338966.1:p.Met287Val, NP_001364993.1:p.Met312Val, NP_001364994.1:p.Met312Val, NP_001364992.1:p.Met313Val

<< First< Prev

Page of 29

Supplemental Content

Filters: Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

SNP Links for Protein (Select 90669931) (575)
SNP

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...