SNP Links for Protein (Select 1034568131) - SNP

Links from Protein

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Select item 14888215681.

rs1488821568 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:116357923 (GRCh38)
10:118117435 (GRCh37)
Canonical SPDI:: NC_000010.11:116357922:A:C
Gene:: CCDC172 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.116357923A>C, NC_000010.10:g.118117435A>C, XM_006717820.5:c.602A>C, XM_006717820.4:c.602A>C, XM_006717820.3:c.602A>C, XM_006717820.2:c.602A>C, XM_006717820.1:c.602A>C, XM_011539771.3:c.638A>C, XM_011539771.2:c.638A>C, XM_011539771.1:c.638A>C, NM_198515.3:c.638A>C, NM_198515.2:c.638A>C, XM_017016206.1:c.638A>C, XM_047425192.1:c.374A>C, XP_006717883.1:p.Asp201Ala, XP_011538073.1:p.Asp213Ala, NP_940917.1:p.Asp213Ala, XP_016871695.1:p.Asp213Ala, XP_047281148.1:p.Asp125Ala

Select item 14851985732.

rs1485198573 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:116378438 (GRCh38)
10:118137950 (GRCh37)
Canonical SPDI:: NC_000010.11:116378437:A:T
Gene:: CCDC172 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.116378438A>T, NC_000010.10:g.118137950A>T, XM_006717820.5:c.633A>T, XM_006717820.4:c.633A>T, XM_006717820.3:c.633A>T, XM_006717820.2:c.633A>T, XM_006717820.1:c.633A>T, NM_198515.3:c.669A>T, NM_198515.2:c.669A>T, XM_017016206.1:c.669A>T, XM_047425192.1:c.405A>T, XP_006717883.1:p.Leu211Phe, NP_940917.1:p.Leu223Phe, XP_016871695.1:p.Leu223Phe, XP_047281148.1:p.Leu135Phe

Select item 14798289973.

rs1479828997 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:116325323 (GRCh38)
10:118084835 (GRCh37)
Canonical SPDI:: NC_000010.11:116325322:T:A
Gene:: CCDC172 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000010.11:g.116325323T>A, NC_000010.10:g.118084835T>A, XM_006717820.5:c.100T>A, XM_006717820.4:c.100T>A, XM_006717820.3:c.100T>A, XM_006717820.2:c.100T>A, XM_006717820.1:c.100T>A, XM_011539771.3:c.100T>A, XM_011539771.2:c.100T>A, XM_011539771.1:c.100T>A, NM_198515.3:c.100T>A, NM_198515.2:c.100T>A, XM_017016206.1:c.100T>A, XP_006717883.1:p.Cys34Ser, XP_011538073.1:p.Cys34Ser, NP_940917.1:p.Cys34Ser, XP_016871695.1:p.Cys34Ser

Select item 14760063974.

rs1476006397 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 10:116325028 (GRCh38)
10:118084540 (GRCh37)
Canonical SPDI:: NC_000010.11:116325027:T:C,NC_000010.11:116325027:T:G
Gene:: CCDC172 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000223/1 (Estonian)
HGVS:: NC_000010.11:g.116325028T>C, NC_000010.11:g.116325028T>G, NC_000010.10:g.118084540T>C, NC_000010.10:g.118084540T>G, XM_006717820.5:c.17T>C, XM_006717820.5:c.17T>G, XM_006717820.4:c.17T>C, XM_006717820.4:c.17T>G, XM_006717820.3:c.17T>C, XM_006717820.3:c.17T>G, XM_006717820.2:c.17T>C, XM_006717820.2:c.17T>G, XM_006717820.1:c.17T>C, XM_006717820.1:c.17T>G, XM_011539771.3:c.17T>C, XM_011539771.3:c.17T>G, XM_011539771.2:c.17T>C, XM_011539771.2:c.17T>G, XM_011539771.1:c.17T>C, XM_011539771.1:c.17T>G, NM_198515.3:c.17T>C, NM_198515.3:c.17T>G, NM_198515.2:c.17T>C, NM_198515.2:c.17T>G, XM_017016206.1:c.17T>C, XM_017016206.1:c.17T>G, XP_006717883.1:p.Leu6Pro, XP_006717883.1:p.Leu6Arg, XP_011538073.1:p.Leu6Pro, XP_011538073.1:p.Leu6Arg, NP_940917.1:p.Leu6Pro, NP_940917.1:p.Leu6Arg, XP_016871695.1:p.Leu6Pro, XP_016871695.1:p.Leu6Arg

Select item 14754176295.

rs1475417629 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:116340747 (GRCh38)
10:118100259 (GRCh37)
Canonical SPDI:: NC_000010.11:116340746:T:C
Gene:: CCDC172 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,intron_variant,missense_variant
HGVS:: NC_000010.11:g.116340747T>C, NC_000010.10:g.118100259T>C, XM_011539771.3:c.179T>C, XM_011539771.2:c.179T>C, XM_011539771.1:c.179T>C, NM_198515.3:c.179T>C, NM_198515.2:c.179T>C, XM_017016206.1:c.179T>C, XM_047425192.1:c.-86T>C, XP_011538073.1:p.Phe60Ser, NP_940917.1:p.Phe60Ser, XP_016871695.1:p.Phe60Ser

Select item 14703344856.

rs1470334485 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:116342189 (GRCh38)
10:118101701 (GRCh37)
Canonical SPDI:: NC_000010.11:116342188:A:G
Gene:: CCDC172 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.116342189A>G, NC_000010.10:g.118101701A>G, XM_006717820.5:c.400A>G, XM_006717820.4:c.400A>G, XM_006717820.3:c.400A>G, XM_006717820.2:c.400A>G, XM_006717820.1:c.400A>G, XM_011539771.3:c.436A>G, XM_011539771.2:c.436A>G, XM_011539771.1:c.436A>G, NM_198515.3:c.436A>G, NM_198515.2:c.436A>G, XM_017016206.1:c.436A>G, XM_047425192.1:c.172A>G, XP_006717883.1:p.Met134Val, XP_011538073.1:p.Met146Val, NP_940917.1:p.Met146Val, XP_016871695.1:p.Met146Val, XP_047281148.1:p.Met58Val

Select item 14697992657.

rs1469799265 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 10:116378490 (GRCh38)
10:118138003 (GRCh37)
Canonical SPDI:: NC_000010.11:116378490:AAA:AAAA
Gene:: CCDC172 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAAA=0./0 (ALFA)
HGVS:: NC_000010.11:g.116378493dup, NC_000010.10:g.118138005dup, XM_006717820.5:c.688dup, XM_006717820.4:c.688dup, XM_006717820.3:c.688dup, XM_006717820.2:c.688dup, XM_006717820.1:c.688dup, NM_198515.3:c.724dup, NM_198515.2:c.724dup, XM_017016206.1:c.724dup, XM_047425192.1:c.460dup, XP_006717883.1:p.Ile230fs, NP_940917.1:p.Ile242fs, XP_016871695.1:p.Ile242fs, XP_047281148.1:p.Ile154fs

Select item 14640779398.

rs1464077939 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:116340817 (GRCh38)
10:118100329 (GRCh37)
Canonical SPDI:: NC_000010.11:116340816:T:C
Gene:: CCDC172 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.116340817T>C, NC_000010.10:g.118100329T>C, XM_006717820.5:c.213T>C, XM_006717820.4:c.213T>C, XM_006717820.3:c.213T>C, XM_006717820.2:c.213T>C, XM_006717820.1:c.213T>C, XM_011539771.3:c.249T>C, XM_011539771.2:c.249T>C, XM_011539771.1:c.249T>C, NM_198515.3:c.249T>C, NM_198515.2:c.249T>C, XM_017016206.1:c.249T>C, XM_047425192.1:c.-16T>C

Select item 14635265869.

rs1463526586 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:116342122 (GRCh38)
10:118101634 (GRCh37)
Canonical SPDI:: NC_000010.11:116342121:G:T
Gene:: CCDC172 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.116342122G>T, NC_000010.10:g.118101634G>T, XM_006717820.5:c.333G>T, XM_006717820.4:c.333G>T, XM_006717820.3:c.333G>T, XM_006717820.2:c.333G>T, XM_006717820.1:c.333G>T, XM_011539771.3:c.369G>T, XM_011539771.2:c.369G>T, XM_011539771.1:c.369G>T, NM_198515.3:c.369G>T, NM_198515.2:c.369G>T, XM_017016206.1:c.369G>T, XM_047425192.1:c.105G>T, XP_006717883.1:p.Lys111Asn, XP_011538073.1:p.Lys123Asn, NP_940917.1:p.Lys123Asn, XP_016871695.1:p.Lys123Asn, XP_047281148.1:p.Lys35Asn

Select item 146303229010.

rs1463032290 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TTTTTTTTTT [Show Flanks]
Chromosome:: 10:116340758 (GRCh38)
10:118100270 (GRCh37)
Canonical SPDI:: NC_000010.11:116340757:TT:T,NC_000010.11:116340757:TT:TTTTTTTTTTT
Gene:: CCDC172 (Varview)
Functional Consequence:: frameshift_variant,inframe_insertion,coding_sequence_variant,5_prime_UTR_variant,intron_variant
Validated:: by cluster
HGVS:: NC_000010.11:g.116340759del, NC_000010.11:g.116340759_116340760insTTTTTTTTT, NC_000010.10:g.118100271del, NC_000010.10:g.118100271_118100272insTTTTTTTTT, XM_011539771.3:c.191del, XM_011539771.3:c.191_192insTTTTTTTTT, XM_011539771.2:c.191del, XM_011539771.2:c.191_192insTTTTTTTTT, XM_011539771.1:c.191del, XM_011539771.1:c.191_192insTTTTTTTTT, NM_198515.3:c.191del, NM_198515.3:c.191_192insTTTTTTTTT, NM_198515.2:c.191del, NM_198515.2:c.191_192insTTTTTTTTT, XM_017016206.1:c.191del, XM_017016206.1:c.191_192insTTTTTTTTT, XM_047425192.1:c.-74del, XM_047425192.1:c.-74_-73insTTTTTTTTT, XP_011538073.1:p.Phe64fs, XP_011538073.1:p.Leu66_Gln67insPhePhePhe, NP_940917.1:p.Phe64fs, NP_940917.1:p.Leu66_Gln67insPhePhePhe, XP_016871695.1:p.Phe64fs, XP_016871695.1:p.Leu66_Gln67insPhePhePhe

Select item 145558293311.

rs1455582933 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:116325348 (GRCh38)
10:118084860 (GRCh37)
Canonical SPDI:: NC_000010.11:116325347:C:T
Gene:: CCDC172 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant
HGVS:: NC_000010.11:g.116325348C>T, NC_000010.10:g.118084860C>T, XM_006717820.5:c.125C>T, XM_006717820.4:c.125C>T, XM_006717820.3:c.125C>T, XM_006717820.2:c.125C>T, XM_006717820.1:c.125C>T, XM_011539771.3:c.125C>T, XM_011539771.2:c.125C>T, XM_011539771.1:c.125C>T, NM_198515.3:c.125C>T, NM_198515.2:c.125C>T, XM_017016206.1:c.125C>T, XP_006717883.1:p.Thr42Met, XP_011538073.1:p.Thr42Met, NP_940917.1:p.Thr42Met, XP_016871695.1:p.Thr42Met

Select item 145153675312.

rs1451536753 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 10:116325318 (GRCh38)
10:118084830 (GRCh37)
Canonical SPDI:: NC_000010.11:116325317:CC:C
Gene:: CCDC172 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.116325319del, NC_000010.10:g.118084831del, XM_006717820.5:c.96del, XM_006717820.4:c.96del, XM_006717820.3:c.96del, XM_006717820.2:c.96del, XM_006717820.1:c.96del, XM_011539771.3:c.96del, XM_011539771.2:c.96del, XM_011539771.1:c.96del, NM_198515.3:c.96del, NM_198515.2:c.96del, XM_017016206.1:c.96del, XP_006717883.1:p.Arg33fs, XP_011538073.1:p.Arg33fs, NP_940917.1:p.Arg33fs, XP_016871695.1:p.Arg33fs

Select item 144096755213.

rs1440967552 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:116325358 (GRCh38)
10:118084870 (GRCh37)
Canonical SPDI:: NC_000010.11:116325357:G:C
Gene:: CCDC172 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.116325358G>C, NC_000010.10:g.118084870G>C, XM_006717820.5:c.135G>C, XM_006717820.4:c.135G>C, XM_006717820.3:c.135G>C, XM_006717820.2:c.135G>C, XM_006717820.1:c.135G>C, XM_011539771.3:c.135G>C, XM_011539771.2:c.135G>C, XM_011539771.1:c.135G>C, NM_198515.3:c.135G>C, NM_198515.2:c.135G>C, XM_017016206.1:c.135G>C

Select item 143784406514.

rs1437844065 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:116325017 (GRCh38)
10:118084529 (GRCh37)
Canonical SPDI:: NC_000010.11:116325016:C:T
Gene:: CCDC172 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.116325017C>T, NC_000010.10:g.118084529C>T, XM_006717820.5:c.6C>T, XM_006717820.4:c.6C>T, XM_006717820.3:c.6C>T, XM_006717820.2:c.6C>T, XM_006717820.1:c.6C>T, XM_011539771.3:c.6C>T, XM_011539771.2:c.6C>T, XM_011539771.1:c.6C>T, NM_198515.3:c.6C>T, NM_198515.2:c.6C>T, XM_017016206.1:c.6C>T

Select item 143653374215.

rs1436533742 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:116325087 (GRCh38)
10:118084599 (GRCh37)
Canonical SPDI:: NC_000010.11:116325086:G:A
Gene:: CCDC172 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000010.11:g.116325087G>A, NC_000010.10:g.118084599G>A, XM_006717820.5:c.76G>A, XM_006717820.4:c.76G>A, XM_006717820.3:c.76G>A, XM_006717820.2:c.76G>A, XM_006717820.1:c.76G>A, XM_011539771.3:c.76G>A, XM_011539771.2:c.76G>A, XM_011539771.1:c.76G>A, NM_198515.3:c.76G>A, NM_198515.2:c.76G>A, XM_017016206.1:c.76G>A, XP_006717883.1:p.Glu26Lys, XP_011538073.1:p.Glu26Lys, NP_940917.1:p.Glu26Lys, XP_016871695.1:p.Glu26Lys

Select item 143604916716.

rs1436049167 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:116340841 (GRCh38)
10:118100353 (GRCh37)
Canonical SPDI:: NC_000010.11:116340840:T:C
Gene:: CCDC172 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.116340841T>C, NC_000010.10:g.118100353T>C, XM_006717820.5:c.237T>C, XM_006717820.4:c.237T>C, XM_006717820.3:c.237T>C, XM_006717820.2:c.237T>C, XM_006717820.1:c.237T>C, XM_011539771.3:c.273T>C, XM_011539771.2:c.273T>C, XM_011539771.1:c.273T>C, NM_198515.3:c.273T>C, NM_198515.2:c.273T>C, XM_017016206.1:c.273T>C, XM_047425192.1:c.9T>C

Select item 143004165317.

rs1430041653 [Homo sapiens]

Variant type:: DEL
Alleles:: AGA>- [Show Flanks]
Chromosome:: 10:116342059 (GRCh38)
10:118101571 (GRCh37)
Canonical SPDI:: NC_000010.11:116342058:AGA:
Gene:: CCDC172 (Varview)
Functional Consequence:: inframe_indel,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.116342059_116342061del, NC_000010.10:g.118101571_118101573del, XM_006717820.5:c.270_272del, XM_006717820.4:c.270_272del, XM_006717820.3:c.270_272del, XM_006717820.2:c.270_272del, XM_006717820.1:c.270_272del, XM_011539771.3:c.306_308del, XM_011539771.2:c.306_308del, XM_011539771.1:c.306_308del, NM_198515.3:c.306_308del, NM_198515.2:c.306_308del, XM_017016206.1:c.306_308del, XM_047425192.1:c.42_44del, XP_006717883.1:p.Ile90_Glu91delinsMet, XP_011538073.1:p.Ile102_Glu103delinsMet, NP_940917.1:p.Ile102_Glu103delinsMet, XP_016871695.1:p.Ile102_Glu103delinsMet, XP_047281148.1:p.Ile14_Glu15delinsMet

Select item 142438283418.

rs1424382834 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 10:116378446 (GRCh38)
10:118137958 (GRCh37)
Canonical SPDI:: NC_000010.11:116378445:A:C,NC_000010.11:116378445:A:G
Gene:: CCDC172 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_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_000010.11:g.116378446A>C, NC_000010.11:g.116378446A>G, NC_000010.10:g.118137958A>C, NC_000010.10:g.118137958A>G, XM_006717820.5:c.641A>C, XM_006717820.5:c.641A>G, XM_006717820.4:c.641A>C, XM_006717820.4:c.641A>G, XM_006717820.3:c.641A>C, XM_006717820.3:c.641A>G, XM_006717820.2:c.641A>C, XM_006717820.2:c.641A>G, XM_006717820.1:c.641A>C, XM_006717820.1:c.641A>G, NM_198515.3:c.677A>C, NM_198515.3:c.677A>G, NM_198515.2:c.677A>C, NM_198515.2:c.677A>G, XM_017016206.1:c.677A>C, XM_017016206.1:c.677A>G, XM_047425192.1:c.413A>C, XM_047425192.1:c.413A>G, XP_006717883.1:p.Tyr214Ser, XP_006717883.1:p.Tyr214Cys, NP_940917.1:p.Tyr226Ser, NP_940917.1:p.Tyr226Cys, XP_016871695.1:p.Tyr226Ser, XP_016871695.1:p.Tyr226Cys, XP_047281148.1:p.Tyr138Ser, XP_047281148.1:p.Tyr138Cys

Select item 142244967219.

rs1422449672 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAAA>- [Show Flanks]
Chromosome:: 10:116342051 (GRCh38)
10:118101563 (GRCh37)
Canonical SPDI:: NC_000010.11:116342047:AAACAAA:AAA
Gene:: CCDC172 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: AAA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.116342051_116342054del, NC_000010.10:g.118101563_118101566del, XM_006717820.5:c.262_265del, XM_006717820.4:c.262_265del, XM_006717820.3:c.262_265del, XM_006717820.2:c.262_265del, XM_006717820.1:c.262_265del, XM_011539771.3:c.298_301del, XM_011539771.2:c.298_301del, XM_011539771.1:c.298_301del, NM_198515.3:c.298_301del, NM_198515.2:c.298_301del, XM_017016206.1:c.298_301del, XM_047425192.1:c.34_37del, XP_006717883.1:p.Lys87_Gln88insTer, XP_011538073.1:p.Lys99_Gln100insTer, NP_940917.1:p.Lys99_Gln100insTer, XP_016871695.1:p.Lys99_Gln100insTer, XP_047281148.1:p.Lys11_Gln12insTer

Select item 142115993920.

rs1421159939 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:116357926 (GRCh38)
10:118117438 (GRCh37)
Canonical SPDI:: NC_000010.11:116357925:C:G
Gene:: CCDC172 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.116357926C>G, NC_000010.10:g.118117438C>G, XM_006717820.5:c.605C>G, XM_006717820.4:c.605C>G, XM_006717820.3:c.605C>G, XM_006717820.2:c.605C>G, XM_006717820.1:c.605C>G, XM_011539771.3:c.641C>G, XM_011539771.2:c.641C>G, XM_011539771.1:c.641C>G, NM_198515.3:c.641C>G, NM_198515.2:c.641C>G, XM_017016206.1:c.641C>G, XM_047425192.1:c.377C>G, XP_006717883.1:p.Thr202Arg, XP_011538073.1:p.Thr214Arg, NP_940917.1:p.Thr214Arg, XP_016871695.1:p.Thr214Arg, XP_047281148.1:p.Thr126Arg

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