SNP Links for Protein (Select 194097425) - SNP

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Links from Protein

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Select item 14890860591.

rs1489086059 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 7:143724598 (GRCh38)
7:143421691 (GRCh37)
Canonical SPDI:: NC_000007.14:143724597:G:C,NC_000007.14:143724597:G:T
Gene:: TCAF2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.143724598G>C, NC_000007.14:g.143724598G>T, NC_000007.13:g.143421691G>C, NC_000007.13:g.143421691G>T, NW_018654714.1:g.268917G>C, NW_018654714.1:g.268917G>T, NM_001130026.3:c.2094G>C, NM_001130026.3:c.2094G>T, NM_001130026.2:c.2094G>C, NM_001130026.2:c.2094G>T, NM_173678.3:c.2406G>C, NM_173678.3:c.2406G>T, NM_173678.2:c.2406G>C, NM_173678.2:c.2406G>T, NM_001363538.2:c.2406G>C, NM_001363538.2:c.2406G>T, NM_001363538.1:c.2406G>C, NM_001363538.1:c.2406G>T, XM_047420217.1:c.2406G>C, XM_047420217.1:c.2406G>T, XM_047420218.1:c.1563G>C, XM_047420218.1:c.1563G>T, NM_001130025.1:c.2406G>C, NM_001130025.1:c.2406G>T, NM_001365429.1:c.2406G>C, NM_001365429.1:c.2406G>T, NM_001365430.1:c.2406G>C, NM_001365430.1:c.2406G>T, NM_001365428.1:c.1563G>C, NM_001365428.1:c.1563G>T

Select item 14887122442.

rs1488712244 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:143703317 (GRCh38)
7:143400410 (GRCh37)
Canonical SPDI:: NC_000007.14:143703316:A:C
Gene:: TCAF2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.143703317A>C, NC_000007.13:g.143400410A>C, NW_018654714.1:g.247603A>C, NM_173678.3:c.323A>C, NM_173678.2:c.323A>C, NM_001363538.2:c.323A>C, NM_001363538.1:c.323A>C, XM_047420217.1:c.323A>C, NM_001130025.1:c.323A>C, XM_047420219.1:c.323A>C, NM_001365427.1:c.323A>C, NM_001365427.2:c.323A>C, NP_775949.2:p.Asp108Ala, NP_001350467.1:p.Asp108Ala, XP_047276173.1:p.Asp108Ala, XP_047276175.1:p.Asp108Ala, NP_001352356.1:p.Asp108Ala

Select item 14884620713.

rs1488462071 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:143720371 (GRCh38)
7:143417464 (GRCh37)
Canonical SPDI:: NC_000007.14:143720370:G:A
Gene:: TCAF2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
HGVS:: NC_000007.14:g.143720371G>A, NC_000007.13:g.143417464G>A, NW_018654714.1:g.264691G>A, NM_001130026.3:c.820G>A, NM_001130026.2:c.820G>A, NM_173678.3:c.1312G>A, NM_173678.2:c.1312G>A, NM_001363538.2:c.1312G>A, NM_001363538.1:c.1312G>A, XM_047420217.1:c.1312G>A, XM_047420218.1:c.469G>A, NM_001130025.1:c.1312G>A, NM_001365429.1:c.1312G>A, NM_001365430.1:c.1312G>A, NM_001365428.1:c.469G>A, XM_047420219.1:c.1312G>A, NP_001123498.2:p.Ala274Thr, NP_775949.2:p.Ala438Thr, NP_001350467.1:p.Ala438Thr, XP_047276173.1:p.Ala438Thr, XP_047276174.1:p.Ala157Thr, NP_001352358.1:p.Ala438Thr, NP_001352359.1:p.Ala438Thr, NP_001352357.1:p.Ala157Thr, XP_047276175.1:p.Ala438Thr

Select item 14880355064.

rs1488035506 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:143721288 (GRCh38)
7:143418381 (GRCh37)
Canonical SPDI:: NC_000007.14:143721287:T:C
Gene:: TCAF2 (Varview)
Functional Consequence:: stop_lost,terminator_codon_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000007.14:g.143721288T>C, NC_000007.13:g.143418381T>C, NW_018654714.1:g.265609T>C, NM_001130026.3:c.1311T>C, NM_001130026.2:c.1311T>C, NM_173678.3:c.1623T>C, NM_173678.2:c.1623T>C, NM_001363538.2:c.1623T>C, NM_001363538.1:c.1623T>C, XM_047420217.1:c.1623T>C, XM_047420218.1:c.780T>C, NM_001130025.1:c.1623T>C, NM_001365429.1:c.1623T>C, NM_001365430.1:c.1623T>C, NM_001365428.1:c.780T>C, XM_047420219.1:c.1915T>C, XP_047276175.1:p.Ter639Arg

Select item 14821654595.

rs1482165459 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 7:143724655 (GRCh38)
7:143421748 (GRCh37)
Canonical SPDI:: NC_000007.14:143724654:G:C,NC_000007.14:143724654:G:T
Gene:: TCAF2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.143724655G>C, NC_000007.14:g.143724655G>T, NC_000007.13:g.143421748G>C, NC_000007.13:g.143421748G>T, NW_018654714.1:g.268974G>C, NW_018654714.1:g.268974G>T, NM_001130026.3:c.2151G>C, NM_001130026.3:c.2151G>T, NM_001130026.2:c.2151G>C, NM_001130026.2:c.2151G>T, NM_173678.3:c.2463G>C, NM_173678.3:c.2463G>T, NM_173678.2:c.2463G>C, NM_173678.2:c.2463G>T, NM_001363538.2:c.2463G>C, NM_001363538.2:c.2463G>T, NM_001363538.1:c.2463G>C, NM_001363538.1:c.2463G>T, XM_047420218.1:c.1620G>C, XM_047420218.1:c.1620G>T, NM_001130025.1:c.2463G>C, NM_001130025.1:c.2463G>T, NM_001365429.1:c.2463G>C, NM_001365429.1:c.2463G>T, NM_001365430.1:c.2463G>C, NM_001365430.1:c.2463G>T, NM_001365428.1:c.1620G>C, NM_001365428.1:c.1620G>T, XM_047420217.1:c.2463G>C, XM_047420217.1:c.2463G>T

Select item 14820925476.

rs1482092547 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:143724467 (GRCh38)
7:143421560 (GRCh37)
Canonical SPDI:: NC_000007.14:143724466:C:G
Gene:: TCAF2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.143724467C>G, NC_000007.13:g.143421560C>G, NW_018654714.1:g.268786C>G, NM_001130026.3:c.1963C>G, NM_001130026.2:c.1963C>G, NM_173678.3:c.2275C>G, NM_173678.2:c.2275C>G, NM_001363538.2:c.2275C>G, NM_001363538.1:c.2275C>G, XM_047420217.1:c.2275C>G, XM_047420218.1:c.1432C>G, NM_001130025.1:c.2275C>G, NM_001365429.1:c.2275C>G, NM_001365430.1:c.2275C>G, NM_001365428.1:c.1432C>G, NP_001123498.2:p.Leu655Val, NP_775949.2:p.Leu759Val, NP_001350467.1:p.Leu759Val, XP_047276173.1:p.Leu759Val, XP_047276174.1:p.Leu478Val, NP_001352358.1:p.Leu759Val, NP_001352359.1:p.Leu759Val, NP_001352357.1:p.Leu478Val

Select item 14808951097.

rs1480895109 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:143720003 (GRCh38)
7:143417096 (GRCh37)
Canonical SPDI:: NC_000007.14:143720002:C:A,NC_000007.14:143720002:C:T
Gene:: TCAF2 (Varview)
Functional Consequence:: stop_gained,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.143720003C>A, NC_000007.14:g.143720003C>T, NC_000007.13:g.143417096C>A, NC_000007.13:g.143417096C>T, NW_018654714.1:g.264323C>A, NW_018654714.1:g.264323C>T, NM_001130026.3:c.452C>A, NM_001130026.3:c.452C>T, NM_001130026.2:c.452C>A, NM_001130026.2:c.452C>T, NM_173678.3:c.944C>A, NM_173678.3:c.944C>T, NM_173678.2:c.944C>A, NM_173678.2:c.944C>T, NM_001363538.2:c.944C>A, NM_001363538.2:c.944C>T, NM_001363538.1:c.944C>A, NM_001363538.1:c.944C>T, XM_047420217.1:c.944C>A, XM_047420217.1:c.944C>T, XM_047420218.1:c.101C>A, XM_047420218.1:c.101C>T, NM_001130025.1:c.944C>A, NM_001130025.1:c.944C>T, NM_001365429.1:c.944C>A, NM_001365429.1:c.944C>T, NM_001365430.1:c.944C>A, NM_001365430.1:c.944C>T, NM_001365428.1:c.101C>A, NM_001365428.1:c.101C>T, XM_047420219.1:c.944C>A, XM_047420219.1:c.944C>T, NP_001123498.2:p.Ser151Ter, NP_001123498.2:p.Ser151Leu, NP_775949.2:p.Ser315Ter, NP_775949.2:p.Ser315Leu, NP_001350467.1:p.Ser315Ter, NP_001350467.1:p.Ser315Leu, XP_047276173.1:p.Ser315Ter, XP_047276173.1:p.Ser315Leu, XP_047276174.1:p.Ser34Ter, XP_047276174.1:p.Ser34Leu, NP_001352358.1:p.Ser315Ter, NP_001352358.1:p.Ser315Leu, NP_001352359.1:p.Ser315Ter, NP_001352359.1:p.Ser315Leu, NP_001352357.1:p.Ser34Ter, NP_001352357.1:p.Ser34Leu, XP_047276175.1:p.Ser315Ter, XP_047276175.1:p.Ser315Leu

Select item 14806434108.

rs1480643410 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 7:143719762 (GRCh38)
7:143416855 (GRCh37)
Canonical SPDI:: NC_000007.14:143719761:C:A,NC_000007.14:143719761:C:G
Gene:: TCAF2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
A=0.000008/1 (GnomAD)
HGVS:: NC_000007.14:g.143719762C>A, NC_000007.14:g.143719762C>G, NC_000007.13:g.143416855C>A, NC_000007.13:g.143416855C>G, NW_018654714.1:g.264082C>A, NW_018654714.1:g.264082C>G, NM_001130026.3:c.211C>A, NM_001130026.3:c.211C>G, NM_001130026.2:c.211C>A, NM_001130026.2:c.211C>G, NM_173678.3:c.703C>A, NM_173678.3:c.703C>G, NM_173678.2:c.703C>A, NM_173678.2:c.703C>G, NM_001363538.2:c.703C>A, NM_001363538.2:c.703C>G, NM_001363538.1:c.703C>A, NM_001363538.1:c.703C>G, XM_047420217.1:c.703C>A, XM_047420217.1:c.703C>G, XM_047420218.1:c.-141C>A, XM_047420218.1:c.-141C>G, NM_001130025.1:c.703C>A, NM_001130025.1:c.703C>G, NM_001365429.1:c.703C>A, NM_001365429.1:c.703C>G, NM_001365430.1:c.703C>A, NM_001365430.1:c.703C>G, NM_001365428.1:c.-141C>A, NM_001365428.1:c.-141C>G, XM_047420219.1:c.703C>A, XM_047420219.1:c.703C>G, NP_001123498.2:p.Pro71Thr, NP_001123498.2:p.Pro71Ala, NP_775949.2:p.Pro235Thr, NP_775949.2:p.Pro235Ala, NP_001350467.1:p.Pro235Thr, NP_001350467.1:p.Pro235Ala, XP_047276173.1:p.Pro235Thr, XP_047276173.1:p.Pro235Ala, NP_001352358.1:p.Pro235Thr, NP_001352358.1:p.Pro235Ala, NP_001352359.1:p.Pro235Thr, NP_001352359.1:p.Pro235Ala, XP_047276175.1:p.Pro235Thr, XP_047276175.1:p.Pro235Ala

Select item 14797497289.

rs1479749728 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:143719755 (GRCh38)
7:143416848 (GRCh37)
Canonical SPDI:: NC_000007.14:143719754:G:T
Gene:: TCAF2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.00007/1 (ALFA)
HGVS:: NC_000007.14:g.143719755G>T, NC_000007.13:g.143416848G>T, NW_018654714.1:g.264075G>T, NM_001130026.3:c.204G>T, NM_001130026.2:c.204G>T, NM_173678.3:c.696G>T, NM_173678.2:c.696G>T, NM_001363538.2:c.696G>T, NM_001363538.1:c.696G>T, XM_047420217.1:c.696G>T, XM_047420218.1:c.-148G>T, NM_001130025.1:c.696G>T, NM_001365429.1:c.696G>T, NM_001365430.1:c.696G>T, NM_001365428.1:c.-148G>T, XM_047420219.1:c.696G>T

Select item 147969856010.

rs1479698560 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:143720535 (GRCh38)
7:143417628 (GRCh37)
Canonical SPDI:: NC_000007.14:143720534:G:C
Gene:: TCAF2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000007.14:g.143720535G>C, NC_000007.13:g.143417628G>C, NW_018654714.1:g.264855G>C, NM_001130026.3:c.984G>C, NM_001130026.2:c.984G>C, NM_173678.3:c.1476G>C, NM_173678.2:c.1476G>C, NM_001363538.2:c.1476G>C, NM_001363538.1:c.1476G>C, XM_047420217.1:c.1476G>C, XM_047420218.1:c.633G>C, NM_001130025.1:c.1476G>C, NM_001365429.1:c.1476G>C, NM_001365430.1:c.1476G>C, NM_001365428.1:c.633G>C, XM_047420219.1:c.1476G>C

Select item 147757699311.

rs1477576993 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:143724392 (GRCh38)
7:143421485 (GRCh37)
Canonical SPDI:: NC_000007.14:143724391:C:T
Gene:: TCAF2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.143724392C>T, NC_000007.13:g.143421485C>T, NW_018654714.1:g.268711C>T, NM_001130026.3:c.1888C>T, NM_001130026.2:c.1888C>T, NM_173678.3:c.2200C>T, NM_173678.2:c.2200C>T, NM_001363538.2:c.2200C>T, NM_001363538.1:c.2200C>T, XM_047420217.1:c.2200C>T, XM_047420218.1:c.1357C>T, NM_001130025.1:c.2200C>T, NM_001365429.1:c.2200C>T, NM_001365430.1:c.2200C>T, NM_001365428.1:c.1357C>T, NP_001123498.2:p.His630Tyr, NP_775949.2:p.His734Tyr, NP_001350467.1:p.His734Tyr, XP_047276173.1:p.His734Tyr, XP_047276174.1:p.His453Tyr, NP_001352358.1:p.His734Tyr, NP_001352359.1:p.His734Tyr, NP_001352357.1:p.His453Tyr

Select item 147633423512.

rs1476334235 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:143720597 (GRCh38)
7:143417690 (GRCh37)
Canonical SPDI:: NC_000007.14:143720596:T:C
Gene:: TCAF2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.00005/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.143720597T>C, NC_000007.13:g.143417690T>C, NW_018654714.1:g.264917T>C, NM_001130026.3:c.1046T>C, NM_001130026.2:c.1046T>C, NM_173678.3:c.1538T>C, NM_173678.2:c.1538T>C, NM_001363538.2:c.1538T>C, NM_001363538.1:c.1538T>C, XM_047420217.1:c.1538T>C, XM_047420218.1:c.695T>C, NM_001130025.1:c.1538T>C, NM_001365429.1:c.1538T>C, NM_001365430.1:c.1538T>C, NM_001365428.1:c.695T>C, XM_047420219.1:c.1538T>C, NP_001123498.2:p.Leu349Pro, NP_775949.2:p.Leu513Pro, NP_001350467.1:p.Leu513Pro, XP_047276173.1:p.Leu513Pro, XP_047276174.1:p.Leu232Pro, NP_001352358.1:p.Leu513Pro, NP_001352359.1:p.Leu513Pro, NP_001352357.1:p.Leu232Pro, XP_047276175.1:p.Leu513Pro

Select item 147430254713.

rs1474302547 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:143703337 (GRCh38)
7:143400430 (GRCh37)
Canonical SPDI:: NC_000007.14:143703336:G:A,NC_000007.14:143703336:G:T
Gene:: TCAF2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0./0 (SGDP_PRJ)
HGVS:: NC_000007.14:g.143703337G>A, NC_000007.14:g.143703337G>T, NC_000007.13:g.143400430G>A, NC_000007.13:g.143400430G>T, NW_018654714.1:g.247623G>A, NW_018654714.1:g.247623G>T, NM_173678.3:c.343G>A, NM_173678.3:c.343G>T, NM_173678.2:c.343G>A, NM_173678.2:c.343G>T, NM_001363538.2:c.343G>A, NM_001363538.2:c.343G>T, NM_001363538.1:c.343G>A, NM_001363538.1:c.343G>T, XM_047420217.1:c.343G>A, XM_047420217.1:c.343G>T, NM_001130025.1:c.343G>A, NM_001130025.1:c.343G>T, XM_047420219.1:c.343G>A, XM_047420219.1:c.343G>T, NM_001365427.1:c.343G>A, NM_001365427.1:c.343G>T, NM_001365427.2:c.343G>A, NM_001365427.2:c.343G>T, NP_775949.2:p.Val115Ile, NP_775949.2:p.Val115Phe, NP_001350467.1:p.Val115Ile, NP_001350467.1:p.Val115Phe, XP_047276173.1:p.Val115Ile, XP_047276173.1:p.Val115Phe, XP_047276175.1:p.Val115Ile, XP_047276175.1:p.Val115Phe, NP_001352356.1:p.Val115Ile, NP_001352356.1:p.Val115Phe

Select item 147404610014.

rs1474046100 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 7:143720015 (GRCh38)
7:143417108 (GRCh37)
Canonical SPDI:: NC_000007.14:143720014:T:A,NC_000007.14:143720014:T:G
Gene:: TCAF2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000007.14:g.143720015T>A, NC_000007.14:g.143720015T>G, NC_000007.13:g.143417108T>A, NC_000007.13:g.143417108T>G, NW_018654714.1:g.264335T>A, NW_018654714.1:g.264335T>G, NM_001130026.3:c.464T>A, NM_001130026.3:c.464T>G, NM_001130026.2:c.464T>A, NM_001130026.2:c.464T>G, NM_173678.3:c.956T>A, NM_173678.3:c.956T>G, NM_173678.2:c.956T>A, NM_173678.2:c.956T>G, NM_001363538.2:c.956T>A, NM_001363538.2:c.956T>G, NM_001363538.1:c.956T>A, NM_001363538.1:c.956T>G, XM_047420217.1:c.956T>A, XM_047420217.1:c.956T>G, XM_047420218.1:c.113T>A, XM_047420218.1:c.113T>G, NM_001130025.1:c.956T>A, NM_001130025.1:c.956T>G, NM_001365429.1:c.956T>A, NM_001365429.1:c.956T>G, NM_001365430.1:c.956T>A, NM_001365430.1:c.956T>G, NM_001365428.1:c.113T>A, NM_001365428.1:c.113T>G, XM_047420219.1:c.956T>A, XM_047420219.1:c.956T>G, NP_001123498.2:p.Leu155Gln, NP_001123498.2:p.Leu155Arg, NP_775949.2:p.Leu319Gln, NP_775949.2:p.Leu319Arg, NP_001350467.1:p.Leu319Gln, NP_001350467.1:p.Leu319Arg, XP_047276173.1:p.Leu319Gln, XP_047276173.1:p.Leu319Arg, XP_047276174.1:p.Leu38Gln, XP_047276174.1:p.Leu38Arg, NP_001352358.1:p.Leu319Gln, NP_001352358.1:p.Leu319Arg, NP_001352359.1:p.Leu319Gln, NP_001352359.1:p.Leu319Arg, NP_001352357.1:p.Leu38Gln, NP_001352357.1:p.Leu38Arg, XP_047276175.1:p.Leu319Gln, XP_047276175.1:p.Leu319Arg

Select item 147207814115.

rs1472078141 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:143721366 (GRCh38)
7:143418459 (GRCh37)
Canonical SPDI:: NC_000007.14:143721365:T:C
Gene:: TCAF2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.03423/406 (ALFA)
C=0.00004/1 (TOMMO)
C=0.00091/28 (GnomAD_exomes)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000007.14:g.143721366T>C, NC_000007.13:g.143418459T>C, NW_018654714.1:g.265687T>C, NM_001130026.3:c.1389T>C, NM_001130026.2:c.1389T>C, NM_173678.3:c.1701T>C, NM_173678.2:c.1701T>C, NM_001363538.2:c.1701T>C, NM_001363538.1:c.1701T>C, XM_047420217.1:c.1701T>C, XM_047420218.1:c.858T>C, NM_001130025.1:c.1701T>C, NM_001365429.1:c.1701T>C, NM_001365430.1:c.1701T>C, NM_001365428.1:c.858T>C, XM_047420219.1:c.*76T>C

Select item 147122264116.

rs1471222641 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:143720234 (GRCh38)
7:143417327 (GRCh37)
Canonical SPDI:: NC_000007.14:143720233:T:A
Gene:: TCAF2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.00008/1 (ALFA)
HGVS:: NC_000007.14:g.143720234T>A, NC_000007.13:g.143417327T>A, NW_018654714.1:g.264554T>A, NM_001130026.3:c.683T>A, NM_001130026.2:c.683T>A, NM_173678.3:c.1175T>A, NM_173678.2:c.1175T>A, NM_001363538.2:c.1175T>A, NM_001363538.1:c.1175T>A, XM_047420217.1:c.1175T>A, XM_047420218.1:c.332T>A, NM_001130025.1:c.1175T>A, NM_001365429.1:c.1175T>A, NM_001365430.1:c.1175T>A, NM_001365428.1:c.332T>A, XM_047420219.1:c.1175T>A, NP_001123498.2:p.Ile228Asn, NP_775949.2:p.Ile392Asn, NP_001350467.1:p.Ile392Asn, XP_047276173.1:p.Ile392Asn, XP_047276174.1:p.Ile111Asn, NP_001352358.1:p.Ile392Asn, NP_001352359.1:p.Ile392Asn, NP_001352357.1:p.Ile111Asn, XP_047276175.1:p.Ile392Asn

Select item 146965271917.

rs1469652719 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:143719890 (GRCh38)
7:143416983 (GRCh37)
Canonical SPDI:: NC_000007.14:143719889:C:T
Gene:: TCAF2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.143719890C>T, NC_000007.13:g.143416983C>T, NW_018654714.1:g.264210C>T, NM_001130026.3:c.339C>T, NM_001130026.2:c.339C>T, NM_173678.3:c.831C>T, NM_173678.2:c.831C>T, NM_001363538.2:c.831C>T, NM_001363538.1:c.831C>T, XM_047420217.1:c.831C>T, XM_047420218.1:c.-13C>T, NM_001130025.1:c.831C>T, NM_001365429.1:c.831C>T, NM_001365430.1:c.831C>T, NM_001365428.1:c.-13C>T, XM_047420219.1:c.831C>T

Select item 146933883818.

rs1469338838 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:143724524 (GRCh38)
7:143421617 (GRCh37)
Canonical SPDI:: NC_000007.14:143724523:A:T
Gene:: TCAF2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.143724524A>T, NC_000007.13:g.143421617A>T, NW_018654714.1:g.268843A>T, NM_001130026.3:c.2020A>T, NM_001130026.2:c.2020A>T, NM_173678.3:c.2332A>T, NM_173678.2:c.2332A>T, NM_001363538.2:c.2332A>T, NM_001363538.1:c.2332A>T, XM_047420217.1:c.2332A>T, XM_047420218.1:c.1489A>T, NM_001130025.1:c.2332A>T, NM_001365429.1:c.2332A>T, NM_001365430.1:c.2332A>T, NM_001365428.1:c.1489A>T, NP_001123498.2:p.Thr674Ser, NP_775949.2:p.Thr778Ser, NP_001350467.1:p.Thr778Ser, XP_047276173.1:p.Thr778Ser, XP_047276174.1:p.Thr497Ser, NP_001352358.1:p.Thr778Ser, NP_001352359.1:p.Thr778Ser, NP_001352357.1:p.Thr497Ser

Select item 146925746119.

rs1469257461 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:143719944 (GRCh38)
7:143417037 (GRCh37)
Canonical SPDI:: NC_000007.14:143719943:A:G
Gene:: TCAF2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000037/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.143719944A>G, NC_000007.13:g.143417037A>G, NW_018654714.1:g.264264A>G, NM_001130026.3:c.393A>G, NM_001130026.2:c.393A>G, NM_173678.3:c.885A>G, NM_173678.2:c.885A>G, NM_001363538.2:c.885A>G, NM_001363538.1:c.885A>G, XM_047420217.1:c.885A>G, XM_047420218.1:c.42A>G, NM_001130025.1:c.885A>G, NM_001365429.1:c.885A>G, NM_001365430.1:c.885A>G, NM_001365428.1:c.42A>G, XM_047420219.1:c.885A>G

Select item 146918600320.

rs1469186003 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:143720309 (GRCh38)
7:143417402 (GRCh37)
Canonical SPDI:: NC_000007.14:143720308:C:T
Gene:: TCAF2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.02029/331 (ALFA)
T=0.00004/1 (GnomAD_exomes)
T=0.00021/4 (TOMMO)
C=0.41667/5 (SGDP_PRJ)
HGVS:: NC_000007.14:g.143720309C>T, NC_000007.13:g.143417402C>T, NW_018654714.1:g.264629C>T, NM_001130026.3:c.758C>T, NM_001130026.2:c.758C>T, NM_173678.3:c.1250C>T, NM_173678.2:c.1250C>T, NM_001363538.2:c.1250C>T, NM_001363538.1:c.1250C>T, XM_047420217.1:c.1250C>T, XM_047420218.1:c.407C>T, NM_001130025.1:c.1250C>T, NM_001365429.1:c.1250C>T, NM_001365430.1:c.1250C>T, NM_001365428.1:c.407C>T, XM_047420219.1:c.1250C>T, NP_001123498.2:p.Ala253Val, NP_775949.2:p.Ala417Val, NP_001350467.1:p.Ala417Val, XP_047276173.1:p.Ala417Val, XP_047276174.1:p.Ala136Val, NP_001352358.1:p.Ala417Val, NP_001352359.1:p.Ala417Val, NP_001352357.1:p.Ala136Val, XP_047276175.1:p.Ala417Val

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