SNP Links for Protein (Select 767992487) - SNP

Links from Protein

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Select item 14862688351.

rs1486268835 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:15308735 (GRCh38)
17:15212052 (GRCh37)
Canonical SPDI:: NC_000017.11:15308734:C:G
Gene:: TEKT3 (Varview), LOC124903932 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.15308735C>G, NC_000017.10:g.15212052C>G, NM_031898.3:c.1185G>C, NM_031898.2:c.1185G>C, XM_011523988.3:c.1185G>C, XM_011523988.2:c.1185G>C, XM_011523988.1:c.1185G>C, XM_011523990.3:c.687G>C, XM_011523990.2:c.687G>C, XM_011523990.1:c.687G>C, XM_017024954.2:c.1185G>C, XM_017024954.1:c.1185G>C, XM_011523989.2:c.1185G>C, XM_011523989.1:c.1185G>C, XM_017024955.2:c.687G>C, XM_017024955.1:c.687G>C

Select item 14861987602.

rs1486198760 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:15331066 (GRCh38)
17:15234383 (GRCh37)
Canonical SPDI:: NC_000017.11:15331065:G:A
Gene:: TEKT3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.15331066G>A, NC_000017.10:g.15234383G>A, NM_031898.3:c.520C>T, NM_031898.2:c.520C>T, XM_011523988.3:c.520C>T, XM_011523988.2:c.520C>T, XM_011523988.1:c.520C>T, XM_011523990.3:c.22C>T, XM_011523990.2:c.22C>T, XM_011523990.1:c.22C>T, XM_017024956.2:c.520C>T, XM_017024956.1:c.520C>T, XM_017024954.2:c.520C>T, XM_017024954.1:c.520C>T, XM_011523989.2:c.520C>T, XM_011523989.1:c.520C>T, XM_017024955.2:c.22C>T, XM_017024955.1:c.22C>T, NP_114104.1:p.Leu174Phe, XP_011522290.1:p.Leu174Phe, XP_011522292.1:p.Leu8Phe, XP_016880445.1:p.Leu174Phe, XP_016880443.1:p.Leu174Phe, XP_011522291.1:p.Leu174Phe, XP_016880444.1:p.Leu8Phe

Select item 14792445363.

rs1479244536 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:15304003 (GRCh38)
17:15207320 (GRCh37)
Canonical SPDI:: NC_000017.11:15304002:T:C
Gene:: TEKT3 (Varview), LOC124903932 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.15304003T>C, NC_000017.10:g.15207320T>C, NM_031898.3:c.1406A>G, NM_031898.2:c.1406A>G, XM_011523988.3:c.1406A>G, XM_011523988.2:c.1406A>G, XM_011523988.1:c.1406A>G, XM_011523990.3:c.908A>G, XM_011523990.2:c.908A>G, XM_011523990.1:c.908A>G, XM_017024954.2:c.1406A>G, XM_017024954.1:c.1406A>G, XM_011523989.2:c.1406A>G, XM_011523989.1:c.1406A>G, XM_017024955.2:c.908A>G, XM_017024955.1:c.908A>G, NP_114104.1:p.Asp469Gly, XP_011522290.1:p.Asp469Gly, XP_011522292.1:p.Asp303Gly, XP_016880443.1:p.Asp469Gly, XP_011522291.1:p.Asp469Gly, XP_016880444.1:p.Asp303Gly

Select item 14753293304.

rs1475329330 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:15319144 (GRCh38)
17:15222461 (GRCh37)
Canonical SPDI:: NC_000017.11:15319143:C:A,NC_000017.11:15319143:C:T
Gene:: TEKT3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.15319144C>A, NC_000017.11:g.15319144C>T, NC_000017.10:g.15222461C>A, NC_000017.10:g.15222461C>T, NM_031898.3:c.667G>T, NM_031898.3:c.667G>A, NM_031898.2:c.667G>T, NM_031898.2:c.667G>A, XM_011523988.3:c.667G>T, XM_011523988.3:c.667G>A, XM_011523988.2:c.667G>T, XM_011523988.2:c.667G>A, XM_011523988.1:c.667G>T, XM_011523988.1:c.667G>A, XM_011523990.3:c.169G>T, XM_011523990.3:c.169G>A, XM_011523990.2:c.169G>T, XM_011523990.2:c.169G>A, XM_011523990.1:c.169G>T, XM_011523990.1:c.169G>A, XM_017024954.2:c.667G>T, XM_017024954.2:c.667G>A, XM_017024954.1:c.667G>T, XM_017024954.1:c.667G>A, XM_011523989.2:c.667G>T, XM_011523989.2:c.667G>A, XM_011523989.1:c.667G>T, XM_011523989.1:c.667G>A, XM_017024955.2:c.169G>T, XM_017024955.2:c.169G>A, XM_017024955.1:c.169G>T, XM_017024955.1:c.169G>A, NP_114104.1:p.Val223Phe, NP_114104.1:p.Val223Ile, XP_011522290.1:p.Val223Phe, XP_011522290.1:p.Val223Ile, XP_011522292.1:p.Val57Phe, XP_011522292.1:p.Val57Ile, XP_016880443.1:p.Val223Phe, XP_016880443.1:p.Val223Ile, XP_011522291.1:p.Val223Phe, XP_011522291.1:p.Val223Ile, XP_016880444.1:p.Val57Phe, XP_016880444.1:p.Val57Ile

Select item 14742941795.

rs1474294179 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:15308722 (GRCh38)
17:15212039 (GRCh37)
Canonical SPDI:: NC_000017.11:15308721:G:A,NC_000017.11:15308721:G:T
Gene:: TEKT3 (Varview), LOC124903932 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.15308722G>A, NC_000017.11:g.15308722G>T, NC_000017.10:g.15212039G>A, NC_000017.10:g.15212039G>T, NM_031898.3:c.1198C>T, NM_031898.3:c.1198C>A, NM_031898.2:c.1198C>T, NM_031898.2:c.1198C>A, XM_011523988.3:c.1198C>T, XM_011523988.3:c.1198C>A, XM_011523988.2:c.1198C>T, XM_011523988.2:c.1198C>A, XM_011523988.1:c.1198C>T, XM_011523988.1:c.1198C>A, XM_011523990.3:c.700C>T, XM_011523990.3:c.700C>A, XM_011523990.2:c.700C>T, XM_011523990.2:c.700C>A, XM_011523990.1:c.700C>T, XM_011523990.1:c.700C>A, XM_017024954.2:c.1198C>T, XM_017024954.2:c.1198C>A, XM_017024954.1:c.1198C>T, XM_017024954.1:c.1198C>A, XM_011523989.2:c.1198C>T, XM_011523989.2:c.1198C>A, XM_011523989.1:c.1198C>T, XM_011523989.1:c.1198C>A, XM_017024955.2:c.700C>T, XM_017024955.2:c.700C>A, XM_017024955.1:c.700C>T, XM_017024955.1:c.700C>A, NP_114104.1:p.Leu400Met, XP_011522290.1:p.Leu400Met, XP_011522292.1:p.Leu234Met, XP_016880443.1:p.Leu400Met, XP_011522291.1:p.Leu400Met, XP_016880444.1:p.Leu234Met

Select item 14728694826.

rs1472869482 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:15312259 (GRCh38)
17:15215576 (GRCh37)
Canonical SPDI:: NC_000017.11:15312258:C:T
Gene:: TEKT3 (Varview), LOC124903932 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000071/1 (TOMMO)
HGVS:: NC_000017.11:g.15312259C>T, NC_000017.10:g.15215576C>T, NM_031898.3:c.1101G>A, NM_031898.2:c.1101G>A, XM_011523988.3:c.1101G>A, XM_011523988.2:c.1101G>A, XM_011523988.1:c.1101G>A, XM_011523990.3:c.603G>A, XM_011523990.2:c.603G>A, XM_011523990.1:c.603G>A, XM_017024954.2:c.1101G>A, XM_017024954.1:c.1101G>A, XM_011523989.2:c.1101G>A, XM_011523989.1:c.1101G>A, XM_017024955.2:c.603G>A, XM_017024955.1:c.603G>A

Select item 14717306007.

rs1471730600 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:15314137 (GRCh38)
17:15217454 (GRCh37)
Canonical SPDI:: NC_000017.11:15314136:G:A
Gene:: TEKT3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.15314137G>A, NC_000017.10:g.15217454G>A, NM_031898.3:c.828C>T, NM_031898.2:c.828C>T, XM_011523988.3:c.828C>T, XM_011523988.2:c.828C>T, XM_011523988.1:c.828C>T, XM_011523990.3:c.330C>T, XM_011523990.2:c.330C>T, XM_011523990.1:c.330C>T, XM_017024954.2:c.828C>T, XM_017024954.1:c.828C>T, XM_011523989.2:c.828C>T, XM_011523989.1:c.828C>T, XM_017024955.2:c.330C>T, XM_017024955.1:c.330C>T

Select item 14685041128.

rs1468504112 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:15303952 (GRCh38)
17:15207269 (GRCh37)
Canonical SPDI:: NC_000017.11:15303951:A:G
Gene:: TEKT3 (Varview), LOC124903932 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_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=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.15303952A>G, NC_000017.10:g.15207269A>G, NM_031898.3:c.1457T>C, NM_031898.2:c.1457T>C, XM_011523988.3:c.1457T>C, XM_011523988.2:c.1457T>C, XM_011523988.1:c.1457T>C, XM_011523990.3:c.959T>C, XM_011523990.2:c.959T>C, XM_011523990.1:c.959T>C, XM_017024954.2:c.1457T>C, XM_017024954.1:c.1457T>C, XM_011523989.2:c.1457T>C, XM_011523989.1:c.1457T>C, XM_017024955.2:c.959T>C, XM_017024955.1:c.959T>C, NP_114104.1:p.Leu486Pro, XP_011522290.1:p.Leu486Pro, XP_011522292.1:p.Leu320Pro, XP_016880443.1:p.Leu486Pro, XP_011522291.1:p.Leu486Pro, XP_016880444.1:p.Leu320Pro

Select item 14679431459.

rs1467943145 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:15304010 (GRCh38)
17:15207327 (GRCh37)
Canonical SPDI:: NC_000017.11:15304009:A:G
Gene:: TEKT3 (Varview), LOC124903932 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.15304010A>G, NC_000017.10:g.15207327A>G, NM_031898.3:c.1399T>C, NM_031898.2:c.1399T>C, XM_011523988.3:c.1399T>C, XM_011523988.2:c.1399T>C, XM_011523988.1:c.1399T>C, XM_011523990.3:c.901T>C, XM_011523990.2:c.901T>C, XM_011523990.1:c.901T>C, XM_017024954.2:c.1399T>C, XM_017024954.1:c.1399T>C, XM_011523989.2:c.1399T>C, XM_011523989.1:c.1399T>C, XM_017024955.2:c.901T>C, XM_017024955.1:c.901T>C, NP_114104.1:p.Tyr467His, XP_011522290.1:p.Tyr467His, XP_011522292.1:p.Tyr301His, XP_016880443.1:p.Tyr467His, XP_011522291.1:p.Tyr467His, XP_016880444.1:p.Tyr301His

Select item 145242369410.

rs1452423694 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:15308802 (GRCh38)
17:15212119 (GRCh37)
Canonical SPDI:: NC_000017.11:15308801:A:C
Gene:: TEKT3 (Varview), LOC124903932 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.15308802A>C, NC_000017.10:g.15212119A>C, NM_031898.3:c.1118T>G, NM_031898.2:c.1118T>G, XM_011523988.3:c.1118T>G, XM_011523988.2:c.1118T>G, XM_011523988.1:c.1118T>G, XM_011523990.3:c.620T>G, XM_011523990.2:c.620T>G, XM_011523990.1:c.620T>G, XM_017024954.2:c.1118T>G, XM_017024954.1:c.1118T>G, XM_011523989.2:c.1118T>G, XM_011523989.1:c.1118T>G, XM_017024955.2:c.620T>G, XM_017024955.1:c.620T>G, NP_114104.1:p.Phe373Cys, XP_011522290.1:p.Phe373Cys, XP_011522292.1:p.Phe207Cys, XP_016880443.1:p.Phe373Cys, XP_011522291.1:p.Phe373Cys, XP_016880444.1:p.Phe207Cys

Select item 145188899711.

rs1451888997 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:15304152 (GRCh38)
17:15207469 (GRCh37)
Canonical SPDI:: NC_000017.11:15304151:G:A
Gene:: TEKT3 (Varview), LOC124903932 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.15304152G>A, NC_000017.10:g.15207469G>A, NM_031898.3:c.1257C>T, NM_031898.2:c.1257C>T, XM_011523988.3:c.1257C>T, XM_011523988.2:c.1257C>T, XM_011523988.1:c.1257C>T, XM_011523990.3:c.759C>T, XM_011523990.2:c.759C>T, XM_011523990.1:c.759C>T, XM_017024954.2:c.1257C>T, XM_017024954.1:c.1257C>T, XM_011523989.2:c.1257C>T, XM_011523989.1:c.1257C>T, XM_017024955.2:c.759C>T, XM_017024955.1:c.759C>T

Select item 144983350812.

rs1449833508 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 17:15312320 (GRCh38)
17:15215637 (GRCh37)
Canonical SPDI:: NC_000017.11:15312319:AAA:AA
Gene:: TEKT3 (Varview), LOC124903932 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,500B_downstream_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.15312322del, NC_000017.10:g.15215639del, NM_031898.3:c.1040del, NM_031898.2:c.1040del, XM_011523988.3:c.1040del, XM_011523988.2:c.1040del, XM_011523988.1:c.1040del, XM_011523990.3:c.542del, XM_011523990.2:c.542del, XM_011523990.1:c.542del, XM_017024954.2:c.1040del, XM_017024954.1:c.1040del, XM_011523989.2:c.1040del, XM_011523989.1:c.1040del, XM_017024955.2:c.542del, XM_017024955.1:c.542del, NP_114104.1:p.Phe347fs, XP_011522290.1:p.Phe347fs, XP_011522292.1:p.Phe181fs, XP_016880443.1:p.Phe347fs, XP_011522291.1:p.Phe347fs, XP_016880444.1:p.Phe181fs

Select item 144920777813.

rs1449207778 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:15304017 (GRCh38)
17:15207334 (GRCh37)
Canonical SPDI:: NC_000017.11:15304016:A:T
Gene:: TEKT3 (Varview), LOC124903932 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.15304017A>T, NC_000017.10:g.15207334A>T, NM_031898.3:c.1392T>A, NM_031898.2:c.1392T>A, XM_011523988.3:c.1392T>A, XM_011523988.2:c.1392T>A, XM_011523988.1:c.1392T>A, XM_011523990.3:c.894T>A, XM_011523990.2:c.894T>A, XM_011523990.1:c.894T>A, XM_017024954.2:c.1392T>A, XM_017024954.1:c.1392T>A, XM_011523989.2:c.1392T>A, XM_011523989.1:c.1392T>A, XM_017024955.2:c.894T>A, XM_017024955.1:c.894T>A, NP_114104.1:p.Asn464Lys, XP_011522290.1:p.Asn464Lys, XP_011522292.1:p.Asn298Lys, XP_016880443.1:p.Asn464Lys, XP_011522291.1:p.Asn464Lys, XP_016880444.1:p.Asn298Lys

Select item 144721114314.

rs1447211143 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:15304140 (GRCh38)
17:15207457 (GRCh37)
Canonical SPDI:: NC_000017.11:15304139:C:A
Gene:: TEKT3 (Varview), LOC124903932 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.15304140C>A, NC_000017.10:g.15207457C>A, NM_031898.3:c.1269G>T, NM_031898.2:c.1269G>T, XM_011523988.3:c.1269G>T, XM_011523988.2:c.1269G>T, XM_011523988.1:c.1269G>T, XM_011523990.3:c.771G>T, XM_011523990.2:c.771G>T, XM_011523990.1:c.771G>T, XM_017024954.2:c.1269G>T, XM_017024954.1:c.1269G>T, XM_011523989.2:c.1269G>T, XM_011523989.1:c.1269G>T, XM_017024955.2:c.771G>T, XM_017024955.1:c.771G>T, NP_114104.1:p.Glu423Asp, XP_011522290.1:p.Glu423Asp, XP_011522292.1:p.Glu257Asp, XP_016880443.1:p.Glu423Asp, XP_011522291.1:p.Glu423Asp, XP_016880444.1:p.Glu257Asp

Select item 144652829515.

rs1446528295 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:15308675 (GRCh38)
17:15211992 (GRCh37)
Canonical SPDI:: NC_000017.11:15308674:C:A
Gene:: TEKT3 (Varview), LOC124903932 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000017.11:g.15308675C>A, NC_000017.10:g.15211992C>A, NM_031898.3:c.1245G>T, NM_031898.2:c.1245G>T, XM_011523988.3:c.1245G>T, XM_011523988.2:c.1245G>T, XM_011523988.1:c.1245G>T, XM_011523990.3:c.747G>T, XM_011523990.2:c.747G>T, XM_011523990.1:c.747G>T, XM_017024954.2:c.1245G>T, XM_017024954.1:c.1245G>T, XM_011523989.2:c.1245G>T, XM_011523989.1:c.1245G>T, XM_017024955.2:c.747G>T, XM_017024955.1:c.747G>T, NP_114104.1:p.Met415Ile, XP_011522290.1:p.Met415Ile, XP_011522292.1:p.Met249Ile, XP_016880443.1:p.Met415Ile, XP_011522291.1:p.Met415Ile, XP_016880444.1:p.Met249Ile

Select item 144297844916.

rs1442978449 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:15331008 (GRCh38)
17:15234325 (GRCh37)
Canonical SPDI:: NC_000017.11:15331007:T:C,NC_000017.11:15331007:T:G
Gene:: TEKT3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.15331008T>C, NC_000017.11:g.15331008T>G, NC_000017.10:g.15234325T>C, NC_000017.10:g.15234325T>G, NM_031898.3:c.578A>G, NM_031898.3:c.578A>C, NM_031898.2:c.578A>G, NM_031898.2:c.578A>C, XM_011523988.3:c.578A>G, XM_011523988.3:c.578A>C, XM_011523988.2:c.578A>G, XM_011523988.2:c.578A>C, XM_011523988.1:c.578A>G, XM_011523988.1:c.578A>C, XM_011523990.3:c.80A>G, XM_011523990.3:c.80A>C, XM_011523990.2:c.80A>G, XM_011523990.2:c.80A>C, XM_011523990.1:c.80A>G, XM_011523990.1:c.80A>C, XM_017024956.2:c.578A>G, XM_017024956.2:c.578A>C, XM_017024956.1:c.578A>G, XM_017024956.1:c.578A>C, XM_017024954.2:c.578A>G, XM_017024954.2:c.578A>C, XM_017024954.1:c.578A>G, XM_017024954.1:c.578A>C, XM_011523989.2:c.578A>G, XM_011523989.2:c.578A>C, XM_011523989.1:c.578A>G, XM_011523989.1:c.578A>C, XM_017024955.2:c.80A>G, XM_017024955.2:c.80A>C, XM_017024955.1:c.80A>G, XM_017024955.1:c.80A>C, NP_114104.1:p.Gln193Arg, NP_114104.1:p.Gln193Pro, XP_011522290.1:p.Gln193Arg, XP_011522290.1:p.Gln193Pro, XP_011522292.1:p.Gln27Arg, XP_011522292.1:p.Gln27Pro, XP_016880445.1:p.Gln193Arg, XP_016880445.1:p.Gln193Pro, XP_016880443.1:p.Gln193Arg, XP_016880443.1:p.Gln193Pro, XP_011522291.1:p.Gln193Arg, XP_011522291.1:p.Gln193Pro, XP_016880444.1:p.Gln27Arg, XP_016880444.1:p.Gln27Pro

Select item 143786813517.

rs1437868135 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:15312474 (GRCh38)
17:15215791 (GRCh37)
Canonical SPDI:: NC_000017.11:15312473:C:T
Gene:: TEKT3 (Varview), LOC124903932 (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,genic_downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.15312474C>T, NC_000017.10:g.15215791C>T, NM_031898.3:c.886G>A, NM_031898.2:c.886G>A, XM_011523988.3:c.886G>A, XM_011523988.2:c.886G>A, XM_011523988.1:c.886G>A, XM_011523990.3:c.388G>A, XM_011523990.2:c.388G>A, XM_011523990.1:c.388G>A, XM_017024954.2:c.886G>A, XM_017024954.1:c.886G>A, XM_011523989.2:c.886G>A, XM_011523989.1:c.886G>A, XM_017024955.2:c.388G>A, XM_017024955.1:c.388G>A, NP_114104.1:p.Val296Met, XP_011522290.1:p.Val296Met, XP_011522292.1:p.Val130Met, XP_016880443.1:p.Val296Met, XP_011522291.1:p.Val296Met, XP_016880444.1:p.Val130Met

Select item 143524074718.

rs1435240747 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:15304059 (GRCh38)
17:15207376 (GRCh37)
Canonical SPDI:: NC_000017.11:15304058:G:A
Gene:: TEKT3 (Varview), LOC124903932 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.15304059G>A, NC_000017.10:g.15207376G>A, NM_031898.3:c.1350C>T, NM_031898.2:c.1350C>T, XM_011523988.3:c.1350C>T, XM_011523988.2:c.1350C>T, XM_011523988.1:c.1350C>T, XM_011523990.3:c.852C>T, XM_011523990.2:c.852C>T, XM_011523990.1:c.852C>T, XM_017024954.2:c.1350C>T, XM_017024954.1:c.1350C>T, XM_011523989.2:c.1350C>T, XM_011523989.1:c.1350C>T, XM_017024955.2:c.852C>T, XM_017024955.1:c.852C>T

Select item 142699687319.

rs1426996873 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:15303953 (GRCh38)
17:15207270 (GRCh37)
Canonical SPDI:: NC_000017.11:15303952:G:C
Gene:: TEKT3 (Varview), LOC124903932 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.15303953G>C, NC_000017.10:g.15207270G>C, NM_031898.3:c.1456C>G, NM_031898.2:c.1456C>G, XM_011523988.3:c.1456C>G, XM_011523988.2:c.1456C>G, XM_011523988.1:c.1456C>G, XM_011523990.3:c.958C>G, XM_011523990.2:c.958C>G, XM_011523990.1:c.958C>G, XM_017024954.2:c.1456C>G, XM_017024954.1:c.1456C>G, XM_011523989.2:c.1456C>G, XM_011523989.1:c.1456C>G, XM_017024955.2:c.958C>G, XM_017024955.1:c.958C>G, NP_114104.1:p.Leu486Val, XP_011522290.1:p.Leu486Val, XP_011522292.1:p.Leu320Val, XP_016880443.1:p.Leu486Val, XP_011522291.1:p.Leu486Val, XP_016880444.1:p.Leu320Val

Select item 142637907120.

rs1426379071 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:15312461 (GRCh38)
17:15215778 (GRCh37)
Canonical SPDI:: NC_000017.11:15312460:C:T
Gene:: TEKT3 (Varview), LOC124903932 (Varview)
Functional Consequence:: 500B_downstream_variant,stop_gained,downstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000017.11:g.15312461C>T, NC_000017.10:g.15215778C>T, NM_031898.3:c.899G>A, NM_031898.2:c.899G>A, XM_011523988.3:c.899G>A, XM_011523988.2:c.899G>A, XM_011523988.1:c.899G>A, XM_011523990.3:c.401G>A, XM_011523990.2:c.401G>A, XM_011523990.1:c.401G>A, XM_017024954.2:c.899G>A, XM_017024954.1:c.899G>A, XM_011523989.2:c.899G>A, XM_011523989.1:c.899G>A, XM_017024955.2:c.401G>A, XM_017024955.1:c.401G>A, NP_114104.1:p.Trp300Ter, XP_011522290.1:p.Trp300Ter, XP_011522292.1:p.Trp134Ter, XP_016880443.1:p.Trp300Ter, XP_011522291.1:p.Trp300Ter, XP_016880444.1:p.Trp134Ter

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