SNP Links for Protein (Select 406601114) - SNP

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Links from Protein

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Select item 14897354421.

rs1489735442 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:15999933 (GRCh38)
17:15903247 (GRCh37)
Canonical SPDI:: NC_000017.11:15999932:C:T
Gene:: TTC19 (Varview), ZSWIM7 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,5_prime_UTR_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000017.11:g.15999933C>T, NC_000017.10:g.15903247C>T, NG_029806.1:g.5554C>T, NM_017775.4:c.85C>T, NM_017775.3:c.85C>T, NM_001271420.2:c.-374C>T, NM_001271420.1:c.-374C>T, XM_017024802.3:c.85C>T, XM_017024802.2:c.85C>T, XM_017024802.1:c.448C>T, XM_017024801.3:c.85C>T, XM_017024801.2:c.85C>T, XM_017024801.1:c.448C>T, XM_024450814.2:c.85C>T, XM_024450814.1:c.85C>T, NR_037985.1:n.554C>T, NP_060245.3:p.Leu29Phe, XP_016880291.2:p.Leu29Phe, XP_016880290.2:p.Leu29Phe, XP_024306582.1:p.Leu29Phe

Select item 14864406902.

rs1486440690 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:16000131 (GRCh38)
17:15903445 (GRCh37)
Canonical SPDI:: NC_000017.11:16000130:C:T
Gene:: TTC19 (Varview), ZSWIM7 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,5_prime_UTR_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.16000131C>T, NC_000017.10:g.15903445C>T, NG_029806.1:g.5752C>T, NM_017775.4:c.198C>T, NM_017775.3:c.198C>T, NM_001271420.2:c.-261C>T, NM_001271420.1:c.-261C>T, XM_017024802.3:c.198C>T, XM_017024802.2:c.198C>T, XM_017024802.1:c.561C>T, XM_017024801.3:c.198C>T, XM_017024801.2:c.198C>T, XM_017024801.1:c.561C>T, XM_024450814.2:c.198C>T, XM_024450814.1:c.198C>T, NR_037985.1:n.667C>T

Select item 14830192853.

rs1483019285 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:16027377 (GRCh38)
17:15930691 (GRCh37)
Canonical SPDI:: NC_000017.11:16027376:G:A
Gene:: TTC19 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
A=0.000029/4 (GnomAD)
A=0.000071/2 (TOMMO)
HGVS:: NC_000017.11:g.16027377G>A, NC_000017.10:g.15930691G>A, NG_029806.1:g.32998G>A, NM_017775.4:c.998G>A, NM_017775.3:c.998G>A, NM_001271420.2:c.677G>A, NM_001271420.1:c.677G>A, NR_037985.1:n.1604G>A, NP_060245.3:p.Arg333Gln, NP_001258349.1:p.Arg226Gln

Select item 14828926514.

rs1482892651 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:16027487 (GRCh38)
17:15930801 (GRCh37)
Canonical SPDI:: NC_000017.11:16027486:A:C
Gene:: TTC19 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.16027487A>C, NC_000017.10:g.15930801A>C, NG_029806.1:g.33108A>C, NM_017775.4:c.1108A>C, NM_017775.3:c.1108A>C, NM_001271420.2:c.787A>C, NM_001271420.1:c.787A>C, NR_037985.1:n.1714A>C, NP_060245.3:p.Lys370Gln, NP_001258349.1:p.Lys263Gln

Select item 14816708515.

rs1481670851 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 17:15999956 (GRCh38)
17:15903270 (GRCh37)
Canonical SPDI:: NC_000017.11:15999955:GGGG:GGG
Gene:: TTC19 (Varview), ZSWIM7 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
HGVS:: NC_000017.11:g.15999959del, NC_000017.10:g.15903273del, NG_029806.1:g.5580del, NM_017775.4:c.111del, NM_017775.3:c.111del, NM_001271420.2:c.-348del, NM_001271420.1:c.-348del, XM_017024802.3:c.111del, XM_017024802.2:c.111del, XM_017024802.1:c.474del, XM_017024801.3:c.111del, XM_017024801.2:c.111del, XM_017024801.1:c.474del, XM_024450814.2:c.111del, XM_024450814.1:c.111del, NR_037985.1:n.580del, NP_060245.3:p.Glu39fs, XP_016880291.2:p.Glu39fs, XP_016880290.2:p.Glu39fs, XP_024306582.1:p.Glu39fs

Select item 14796842876.

rs1479684287 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:15999867 (GRCh38)
17:15903181 (GRCh37)
Canonical SPDI:: NC_000017.11:15999866:T:C
Gene:: TTC19 (Varview), ZSWIM7 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,5_prime_UTR_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000011/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.15999867T>C, NC_000017.10:g.15903181T>C, NG_029806.1:g.5488T>C, NM_017775.4:c.19T>C, NM_017775.3:c.19T>C, NM_001271420.2:c.-440T>C, NM_001271420.1:c.-440T>C, XM_017024802.3:c.19T>C, XM_017024802.2:c.19T>C, XM_017024802.1:c.382T>C, XM_017024801.3:c.19T>C, XM_017024801.2:c.19T>C, XM_017024801.1:c.382T>C, XM_024450814.2:c.19T>C, XM_024450814.1:c.19T>C, NR_037985.1:n.488T>C, NP_060245.3:p.Trp7Arg, XP_016880291.2:p.Trp7Arg, XP_016880290.2:p.Trp7Arg, XP_024306582.1:p.Trp7Arg

Select item 14740922857.

rs1474092285 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:16000010 (GRCh38)
17:15903324 (GRCh37)
Canonical SPDI:: NC_000017.11:16000009:A:C
Gene:: TTC19 (Varview), ZSWIM7 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,5_prime_UTR_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.16000010A>C, NC_000017.10:g.15903324A>C, NG_029806.1:g.5631A>C, NM_017775.4:c.162A>C, NM_017775.3:c.162A>C, NM_001271420.2:c.-297A>C, NM_001271420.1:c.-297A>C, XM_017024802.3:c.162A>C, XM_017024802.2:c.162A>C, XM_017024802.1:c.525A>C, XM_017024801.3:c.162A>C, XM_017024801.2:c.162A>C, XM_017024801.1:c.525A>C, XM_024450814.2:c.162A>C, XM_024450814.1:c.162A>C, NR_037985.1:n.631A>C

Select item 14699828488.

rs1469982848 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:16001975 (GRCh38)
17:15905289 (GRCh37)
Canonical SPDI:: NC_000017.11:16001974:C:G
Gene:: TTC19 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.16001975C>G, NC_000017.10:g.15905289C>G, NG_029806.1:g.7596C>G, NM_017775.4:c.373C>G, NM_017775.3:c.373C>G, NM_001271420.2:c.52C>G, NM_001271420.1:c.52C>G, XM_017024802.3:c.373C>G, XM_017024802.2:c.373C>G, XM_017024802.1:c.736C>G, XM_017024801.3:c.373C>G, XM_017024801.2:c.373C>G, XM_017024801.1:c.736C>G, XM_024450814.2:c.373C>G, XM_024450814.1:c.373C>G, NR_037985.1:n.979C>G, NP_060245.3:p.Leu125Val, NP_001258349.1:p.Leu18Val, XP_016880291.2:p.Leu125Val, XP_016880290.2:p.Leu125Val, XP_024306582.1:p.Leu125Val

Select item 14629002629.

rs1462900262 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:16006539 (GRCh38)
17:15909853 (GRCh37)
Canonical SPDI:: NC_000017.11:16006538:A:G
Gene:: TTC19 (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=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.16006539A>G, NC_000017.10:g.15909853A>G, NG_029806.1:g.12160A>G, NM_017775.4:c.647A>G, NM_017775.3:c.647A>G, NM_001271420.2:c.326A>G, NM_001271420.1:c.326A>G, XM_017024802.3:c.647A>G, XM_017024802.2:c.647A>G, XM_017024802.1:c.1010A>G, XM_017024801.3:c.647A>G, XM_017024801.2:c.647A>G, XM_017024801.1:c.1010A>G, XM_024450814.2:c.647A>G, XM_024450814.1:c.647A>G, NR_037985.1:n.1253A>G, NP_060245.3:p.Glu216Gly, NP_001258349.1:p.Glu109Gly, XP_016880291.2:p.Glu216Gly, XP_016880290.2:p.Glu216Gly, XP_024306582.1:p.Glu216Gly

Select item 146259352610.

rs1462593526 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:15999970 (GRCh38)
17:15903284 (GRCh37)
Canonical SPDI:: NC_000017.11:15999969:A:G
Gene:: TTC19 (Varview), ZSWIM7 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Clinical significance:: uncertain-significance,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.001853/35 (ALFA)
G=0.000132/35 (TOPMED)
G=0.000625/4 (1000Genomes)
G=0.001198/167 (GnomAD)
G=0.007812/35 (Estonian)
HGVS:: NC_000017.11:g.15999970A>G, NC_000017.10:g.15903284A>G, NG_029806.1:g.5591A>G, NM_017775.4:c.122A>G, NM_017775.3:c.122A>G, NM_001271420.2:c.-337A>G, NM_001271420.1:c.-337A>G, XM_017024802.3:c.122A>G, XM_017024802.2:c.122A>G, XM_017024802.1:c.485A>G, XM_017024801.3:c.122A>G, XM_017024801.2:c.122A>G, XM_017024801.1:c.485A>G, XM_024450814.2:c.122A>G, XM_024450814.1:c.122A>G, NR_037985.1:n.591A>G, NP_060245.3:p.Gln41Arg, XP_016880291.2:p.Gln41Arg, XP_016880290.2:p.Gln41Arg, XP_024306582.1:p.Gln41Arg

Select item 146247690911.

rs1462476909 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:15999957 (GRCh38)
17:15903271 (GRCh37)
Canonical SPDI:: NC_000017.11:15999956:G:T
Gene:: TTC19 (Varview), ZSWIM7 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.15999957G>T, NC_000017.10:g.15903271G>T, NG_029806.1:g.5578G>T, NM_017775.4:c.109G>T, NM_017775.3:c.109G>T, NM_001271420.2:c.-350G>T, NM_001271420.1:c.-350G>T, XM_017024802.3:c.109G>T, XM_017024802.2:c.109G>T, XM_017024802.1:c.472G>T, XM_017024801.3:c.109G>T, XM_017024801.2:c.109G>T, XM_017024801.1:c.472G>T, XM_024450814.2:c.109G>T, XM_024450814.1:c.109G>T, NR_037985.1:n.578G>T, NP_060245.3:p.Gly37Trp, XP_016880291.2:p.Gly37Trp, XP_016880290.2:p.Gly37Trp, XP_024306582.1:p.Gly37Trp

Select item 146096035612.

rs1460960356 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:16000142 (GRCh38)
17:15903456 (GRCh37)
Canonical SPDI:: NC_000017.11:16000141:C:T
Gene:: TTC19 (Varview), ZSWIM7 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.16000142C>T, NC_000017.10:g.15903456C>T, NG_029806.1:g.5763C>T, NM_017775.4:c.209C>T, NM_017775.3:c.209C>T, NM_001271420.2:c.-250C>T, NM_001271420.1:c.-250C>T, XM_017024802.3:c.209C>T, XM_017024802.2:c.209C>T, XM_017024802.1:c.572C>T, XM_017024801.3:c.209C>T, XM_017024801.2:c.209C>T, XM_017024801.1:c.572C>T, XM_024450814.2:c.209C>T, XM_024450814.1:c.209C>T, NR_037985.1:n.678C>T, NP_060245.3:p.Ala70Val, XP_016880291.2:p.Ala70Val, XP_016880290.2:p.Ala70Val, XP_024306582.1:p.Ala70Val

Select item 145975405313.

rs1459754053 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:16027455 (GRCh38)
17:15930769 (GRCh37)
Canonical SPDI:: NC_000017.11:16027454:A:C
Gene:: TTC19 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.16027455A>C, NC_000017.10:g.15930769A>C, NG_029806.1:g.33076A>C, NM_017775.4:c.1076A>C, NM_017775.3:c.1076A>C, NM_001271420.2:c.755A>C, NM_001271420.1:c.755A>C, NR_037985.1:n.1682A>C, NP_060245.3:p.His359Pro, NP_001258349.1:p.His252Pro

Select item 145843512414.

rs1458435124 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:16026586 (GRCh38)
17:15929900 (GRCh37)
Canonical SPDI:: NC_000017.11:16026585:G:A
Gene:: TTC19 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.16026586G>A, NC_000017.10:g.15929900G>A, NG_029806.1:g.32207G>A, NM_017775.4:c.878G>A, NM_017775.3:c.878G>A, NM_001271420.2:c.557G>A, NM_001271420.1:c.557G>A, XM_017024802.3:c.878G>A, XM_017024802.2:c.878G>A, XM_017024802.1:c.1241G>A, XM_017024801.3:c.878G>A, XM_017024801.2:c.878G>A, XM_017024801.1:c.1241G>A, NR_037985.1:n.1484G>A, NP_060245.3:p.Gly293Asp, NP_001258349.1:p.Gly186Asp, XP_016880291.2:p.Gly293Asp, XP_016880290.2:p.Gly293Asp

Select item 145741228915.

rs1457412289 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:16025120 (GRCh38)
17:15928434 (GRCh37)
Canonical SPDI:: NC_000017.11:16025119:T:C
Gene:: TTC19 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.16025120T>C, NC_000017.10:g.15928434T>C, NG_029806.1:g.30741T>C, NM_017775.4:c.780T>C, NM_017775.3:c.780T>C, NM_001271420.2:c.459T>C, NM_001271420.1:c.459T>C, XM_017024802.3:c.780T>C, XM_017024802.2:c.780T>C, XM_017024802.1:c.1143T>C, XM_017024801.3:c.780T>C, XM_017024801.2:c.780T>C, XM_017024801.1:c.1143T>C, NR_037985.1:n.1386T>C

Select item 145688670316.

rs1456886703 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 17:16026650 (GRCh38)
17:15929964 (GRCh37)
Canonical SPDI:: NC_000017.11:16026649:T:A,NC_000017.11:16026649:T:C
Gene:: TTC19 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.16026650T>A, NC_000017.11:g.16026650T>C, NC_000017.10:g.15929964T>A, NC_000017.10:g.15929964T>C, NG_029806.1:g.32271T>A, NG_029806.1:g.32271T>C, NM_017775.4:c.942T>A, NM_017775.4:c.942T>C, NM_017775.3:c.942T>A, NM_017775.3:c.942T>C, NM_001271420.2:c.621T>A, NM_001271420.2:c.621T>C, NM_001271420.1:c.621T>A, NM_001271420.1:c.621T>C, XM_017024802.3:c.942T>A, XM_017024802.3:c.942T>C, XM_017024802.2:c.942T>A, XM_017024802.2:c.942T>C, XM_017024802.1:c.1305T>A, XM_017024802.1:c.1305T>C, XM_017024801.3:c.942T>A, XM_017024801.3:c.942T>C, XM_017024801.2:c.942T>A, XM_017024801.2:c.942T>C, XM_017024801.1:c.1305T>A, XM_017024801.1:c.1305T>C, NR_037985.1:n.1548T>A, NR_037985.1:n.1548T>C, NP_060245.3:p.His314Gln, NP_001258349.1:p.His207Gln, XP_016880291.2:p.His314Gln, XP_016880290.2:p.His314Gln

Select item 145575499217.

rs1455754992 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAAAAGTAGACCTTTGACAAA>- [Show Flanks]
Chromosome:: 17:16027486 (GRCh38)
17:15930800 (GRCh37)
Canonical SPDI:: NC_000017.11:16027481:CAAAGAAAAGTAGACCTTTGACAAA:CAAA
Gene:: TTC19 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,inframe_deletion,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.16027486_16027506del, NC_000017.10:g.15930800_15930820del, NG_029806.1:g.33107_33127del, NM_017775.4:c.1107_1127del, NM_017775.3:c.1107_1127del, NM_001271420.2:c.786_806del, NM_001271420.1:c.786_806del, NR_037985.1:n.1713_1733del, NP_060245.3:p.Lys369_Thr375del, NP_001258349.1:p.Lys262_Thr268del

Select item 145033314418.

rs1450333144 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 17:16025026 (GRCh38)
17:15928340 (GRCh37)
Canonical SPDI:: NC_000017.11:16025024:AAA:A
Gene:: TTC19 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.16025026_16025027del, NC_000017.10:g.15928340_15928341del, NG_029806.1:g.30647_30648del, NM_017775.4:c.686_687del, NM_017775.3:c.686_687del, NM_001271420.2:c.365_366del, NM_001271420.1:c.365_366del, XM_017024802.3:c.686_687del, XM_017024802.2:c.686_687del, XM_017024802.1:c.1049_1050del, XM_017024801.3:c.686_687del, XM_017024801.2:c.686_687del, XM_017024801.1:c.1049_1050del, NR_037985.1:n.1292_1293del, NP_060245.3:p.Lys229fs, NP_001258349.1:p.Lys122fs, XP_016880291.2:p.Lys229fs, XP_016880290.2:p.Lys229fs

Select item 144988763419.

rs1449887634 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:16027475 (GRCh38)
17:15930789 (GRCh37)
Canonical SPDI:: NC_000017.11:16027474:G:A
Gene:: TTC19 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.16027475G>A, NC_000017.10:g.15930789G>A, NG_029806.1:g.33096G>A, NM_017775.4:c.1096G>A, NM_017775.3:c.1096G>A, NM_001271420.2:c.775G>A, NM_001271420.1:c.775G>A, NR_037985.1:n.1702G>A, NP_060245.3:p.Glu366Lys, NP_001258349.1:p.Glu259Lys

Select item 144272506220.

rs1442725062 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:16027521 (GRCh38)
17:15930835 (GRCh37)
Canonical SPDI:: NC_000017.11:16027520:A:G
Gene:: TTC19 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,synonymous_variant,terminator_codon_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.16027521A>G, NC_000017.10:g.15930835A>G, NG_029806.1:g.33142A>G, NM_017775.4:c.1142A>G, NM_017775.3:c.1142A>G, NM_001271420.2:c.821A>G, NM_001271420.1:c.821A>G, NR_037985.1:n.1748A>G

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