SNP Links for Protein (Select 222418570) - SNP

Links from Protein

Items: 1 to 20 of 128

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Select item 14805527961.

rs1480552796 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:36227335 (GRCh38)
13:36801472 (GRCh37)
Canonical SPDI:: NC_000013.11:36227334:C:T
Gene:: CCDC169 (Varview), CCDC169-SOHLH2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000026/4 (GnomAD_exomes)
HGVS:: NC_000013.11:g.36227335C>T, NC_000013.10:g.36801472C>T, NM_001144982.3:c.286G>A, NM_001144982.2:c.286G>A, NM_001144983.3:c.286G>A, NM_001144983.2:c.286G>A, NM_001144984.3:c.292G>A, NM_001144984.2:c.292G>A, NM_001198908.2:c.592G>A, NM_001198908.1:c.592G>A, NP_001138454.1:p.Glu96Lys, NP_001138455.1:p.Glu96Lys, NP_001138456.1:p.Glu98Lys, NP_001185837.1:p.Glu198Lys

Select item 14760968302.

rs1476096830 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 13:36227212 (GRCh38)
13:36801349 (GRCh37)
Canonical SPDI:: NC_000013.11:36227211:G:C
Gene:: CCDC169 (Varview), CCDC169-SOHLH2 (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 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.36227212G>C, NC_000013.10:g.36801349G>C, NM_001144982.3:c.409C>G, NM_001144982.2:c.409C>G, NM_001144983.3:c.409C>G, NM_001144983.2:c.409C>G, NM_001144984.3:c.415C>G, NM_001144984.2:c.415C>G, NM_001198908.2:c.715C>G, NM_001198908.1:c.715C>G, NP_001138454.1:p.Leu137Val, NP_001138455.1:p.Leu137Val, NP_001138456.1:p.Leu139Val, NP_001185837.1:p.Leu239Val

Select item 14703306843.

rs1470330684 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTG [Show Flanks]
Chromosome:: 13:36248647 (GRCh38)
13:36822785 (GRCh37)
Canonical SPDI:: NC_000013.11:36248647:TGTTG:TGTTGTTG
Gene:: CCDC169 (Varview), CCDC169-SOHLH2 (Varview)
Functional Consequence:: inframe_insertion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTTGTTG=0./0 (ALFA)
TGT=0.000007/1 (GnomAD)
TGT=0.000071/1 (TOMMO)
HGVS:: NC_000013.11:g.36248650_36248652dup, NC_000013.10:g.36822787_36822789dup, NM_001144982.3:c.195_197dup, NM_001144982.2:c.195_197dup, NM_001144983.3:c.195_197dup, NM_001144983.2:c.195_197dup, NM_001144984.3:c.201_203dup, NM_001144984.2:c.201_203dup, NM_001144981.3:c.501_503dup, NM_001144981.2:c.501_503dup, NM_001144985.3:c.195_197dup, NM_001144985.2:c.195_197dup, NM_001144986.3:c.195_197dup, NM_001144986.2:c.195_197dup, NM_001198908.2:c.501_503dup, NM_001198908.1:c.501_503dup, NM_001198910.2:c.201_203dup, NM_001198910.1:c.201_203dup, NP_001138454.1:p.Gln66dup, NP_001138455.1:p.Gln66dup, NP_001138456.1:p.Gln68dup, NP_001138453.1:p.Gln168dup, NP_001138457.1:p.Gln66dup, NP_001138458.1:p.Gln66dup, NP_001185837.1:p.Gln168dup, NP_001185839.1:p.Gln68dup

Select item 14693445084.

rs1469344508 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:36227217 (GRCh38)
13:36801354 (GRCh37)
Canonical SPDI:: NC_000013.11:36227216:G:A
Gene:: CCDC169 (Varview), CCDC169-SOHLH2 (Varview)
Functional Consequence:: missense_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.36227217G>A, NC_000013.10:g.36801354G>A, NM_001144982.3:c.404C>T, NM_001144982.2:c.404C>T, NM_001144983.3:c.404C>T, NM_001144983.2:c.404C>T, NM_001144984.3:c.410C>T, NM_001144984.2:c.410C>T, NM_001198908.2:c.710C>T, NM_001198908.1:c.710C>T, NP_001138454.1:p.Thr135Ile, NP_001138455.1:p.Thr135Ile, NP_001138456.1:p.Thr137Ile, NP_001185837.1:p.Thr237Ile

Select item 14683844555.

rs1468384455 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 13:36248654 (GRCh38)
13:36822792 (GRCh37)
Canonical SPDI:: NC_000013.11:36248654:TTTT:TTTTT
Gene:: CCDC169 (Varview), CCDC169-SOHLH2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.36248658dup, NC_000013.10:g.36822795dup, NM_001144982.3:c.190dup, NM_001144982.2:c.190dup, NM_001144983.3:c.190dup, NM_001144983.2:c.190dup, NM_001144984.3:c.196dup, NM_001144984.2:c.196dup, NM_001144981.3:c.496dup, NM_001144981.2:c.496dup, NM_001144985.3:c.190dup, NM_001144985.2:c.190dup, NM_001144986.3:c.190dup, NM_001144986.2:c.190dup, NM_001198908.2:c.496dup, NM_001198908.1:c.496dup, NM_001198910.2:c.196dup, NM_001198910.1:c.196dup, NP_001138454.1:p.Arg64fs, NP_001138455.1:p.Arg64fs, NP_001138456.1:p.Arg66fs, NP_001138453.1:p.Arg166fs, NP_001138457.1:p.Arg64fs, NP_001138458.1:p.Arg64fs, NP_001185837.1:p.Arg166fs, NP_001185839.1:p.Arg66fs

Select item 14674928516.

rs1467492851 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:36227253 (GRCh38)
13:36801390 (GRCh37)
Canonical SPDI:: NC_000013.11:36227252:C:T
Gene:: CCDC169 (Varview), CCDC169-SOHLH2 (Varview)
Functional Consequence:: missense_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.36227253C>T, NC_000013.10:g.36801390C>T, NM_001144982.3:c.368G>A, NM_001144982.2:c.368G>A, NM_001144983.3:c.368G>A, NM_001144983.2:c.368G>A, NM_001144984.3:c.374G>A, NM_001144984.2:c.374G>A, NM_001198908.2:c.674G>A, NM_001198908.1:c.674G>A, NP_001138454.1:p.Cys123Tyr, NP_001138455.1:p.Cys123Tyr, NP_001138456.1:p.Cys125Tyr, NP_001185837.1:p.Cys225Tyr

Select item 14630663157.

rs1463066315 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 13:36227365 (GRCh38)
13:36801502 (GRCh37)
Canonical SPDI:: NC_000013.11:36227364:C:G
Gene:: CCDC169 (Varview), CCDC169-SOHLH2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_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_exomes)
HGVS:: NC_000013.11:g.36227365C>G, NC_000013.10:g.36801502C>G, NM_001144982.3:c.256G>C, NM_001144982.2:c.256G>C, NM_001144983.3:c.256G>C, NM_001144983.2:c.256G>C, NM_001144984.3:c.262G>C, NM_001144984.2:c.262G>C, NM_001198908.2:c.562G>C, NM_001198908.1:c.562G>C, NM_001198910.2:c.262G>C, NM_001198910.1:c.262G>C, NP_001138454.1:p.Glu86Gln, NP_001138455.1:p.Glu86Gln, NP_001138456.1:p.Glu88Gln, NP_001185837.1:p.Glu188Gln, NP_001185839.1:p.Glu88Gln

Select item 14563344658.

rs1456334465 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:36248645 (GRCh38)
13:36822782 (GRCh37)
Canonical SPDI:: NC_000013.11:36248644:A:G
Gene:: CCDC169 (Varview), CCDC169-SOHLH2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000013/2 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000013.11:g.36248645A>G, NC_000013.10:g.36822782A>G, NM_001144982.3:c.200T>C, NM_001144982.2:c.200T>C, NM_001144983.3:c.200T>C, NM_001144983.2:c.200T>C, NM_001144984.3:c.206T>C, NM_001144984.2:c.206T>C, NM_001144981.3:c.506T>C, NM_001144981.2:c.506T>C, NM_001144985.3:c.200T>C, NM_001144985.2:c.200T>C, NM_001144986.3:c.200T>C, NM_001144986.2:c.200T>C, NM_001198908.2:c.506T>C, NM_001198908.1:c.506T>C, NM_001198910.2:c.206T>C, NM_001198910.1:c.206T>C, NP_001138454.1:p.Val67Ala, NP_001138455.1:p.Val67Ala, NP_001138456.1:p.Val69Ala, NP_001138453.1:p.Val169Ala, NP_001138457.1:p.Val67Ala, NP_001138458.1:p.Val67Ala, NP_001185837.1:p.Val169Ala, NP_001185839.1:p.Val69Ala

Select item 14549903879.

rs1454990387 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:36254094 (GRCh38)
13:36828231 (GRCh37)
Canonical SPDI:: NC_000013.11:36254093:A:G
Gene:: CCDC169 (Varview), CCDC169-SOHLH2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.36254094A>G, NC_000013.10:g.36828231A>G, NM_001144982.3:c.59T>C, NM_001144982.2:c.59T>C, NM_001144983.3:c.59T>C, NM_001144983.2:c.59T>C, NM_001144984.3:c.65T>C, NM_001144984.2:c.65T>C, NM_001144981.3:c.365T>C, NM_001144981.2:c.365T>C, NM_001144985.3:c.59T>C, NM_001144985.2:c.59T>C, NM_001144986.3:c.59T>C, NM_001144986.2:c.59T>C, NM_001198908.2:c.365T>C, NM_001198908.1:c.365T>C, NM_001198910.2:c.65T>C, NM_001198910.1:c.65T>C, NP_001138454.1:p.Leu20Pro, NP_001138455.1:p.Leu20Pro, NP_001138456.1:p.Leu22Pro, NP_001138453.1:p.Leu122Pro, NP_001138457.1:p.Leu20Pro, NP_001138458.1:p.Leu20Pro, NP_001185837.1:p.Leu122Pro, NP_001185839.1:p.Leu22Pro

Select item 144306694510.

rs1443066945 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:36227277 (GRCh38)
13:36801414 (GRCh37)
Canonical SPDI:: NC_000013.11:36227276:C:T
Gene:: CCDC169 (Varview), CCDC169-SOHLH2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.36227277C>T, NC_000013.10:g.36801414C>T, NM_001144982.3:c.344G>A, NM_001144982.2:c.344G>A, NM_001144983.3:c.344G>A, NM_001144983.2:c.344G>A, NM_001144984.3:c.350G>A, NM_001144984.2:c.350G>A, NM_001198908.2:c.650G>A, NM_001198908.1:c.650G>A, NP_001138454.1:p.Gly115Glu, NP_001138455.1:p.Gly115Glu, NP_001138456.1:p.Gly117Glu, NP_001185837.1:p.Gly217Glu

Select item 144283971211.

rs1442839712 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:36254135 (GRCh38)
13:36828272 (GRCh37)
Canonical SPDI:: NC_000013.11:36254134:T:C
Gene:: CCDC169 (Varview), CCDC169-SOHLH2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000013.11:g.36254135T>C, NC_000013.10:g.36828272T>C, NM_001144982.3:c.18A>G, NM_001144982.2:c.18A>G, NM_001144983.3:c.18A>G, NM_001144983.2:c.18A>G, NM_001144984.3:c.24A>G, NM_001144984.2:c.24A>G, NM_001144981.3:c.324A>G, NM_001144981.2:c.324A>G, NM_001144985.3:c.18A>G, NM_001144985.2:c.18A>G, NM_001144986.3:c.18A>G, NM_001144986.2:c.18A>G, NM_001198908.2:c.324A>G, NM_001198908.1:c.324A>G, NM_001198910.2:c.24A>G, NM_001198910.1:c.24A>G

Select item 144215284812.

rs1442152848 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>- [Show Flanks]
Chromosome:: 13:36254104 (GRCh38)
13:36828241 (GRCh37)
Canonical SPDI:: NC_000013.11:36254102:TTTT:T
Gene:: CCDC169 (Varview), CCDC169-SOHLH2 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0002/1 (ALFA)
-=0.0002/1 (Estonian)
HGVS:: NC_000013.11:g.36254104_36254106del, NC_000013.10:g.36828241_36828243del, NM_001144982.3:c.48_50del, NM_001144982.2:c.48_50del, NM_001144983.3:c.48_50del, NM_001144983.2:c.48_50del, NM_001144984.3:c.54_56del, NM_001144984.2:c.54_56del, NM_001144981.3:c.354_356del, NM_001144981.2:c.354_356del, NM_001144985.3:c.48_50del, NM_001144985.2:c.48_50del, NM_001144986.3:c.48_50del, NM_001144986.2:c.48_50del, NM_001198908.2:c.354_356del, NM_001198908.1:c.354_356del, NM_001198910.2:c.54_56del, NM_001198910.1:c.54_56del, NP_001138454.1:p.Lys18del, NP_001138455.1:p.Lys18del, NP_001138456.1:p.Lys20del, NP_001138453.1:p.Lys120del, NP_001138457.1:p.Lys18del, NP_001138458.1:p.Lys18del, NP_001185837.1:p.Lys120del, NP_001185839.1:p.Lys20del

Select item 143945468713.

rs1439454687 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:36227245 (GRCh38)
13:36801382 (GRCh37)
Canonical SPDI:: NC_000013.11:36227244:C:T
Gene:: CCDC169 (Varview), CCDC169-SOHLH2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.36227245C>T, NC_000013.10:g.36801382C>T, NM_001144982.3:c.376G>A, NM_001144982.2:c.376G>A, NM_001144983.3:c.376G>A, NM_001144983.2:c.376G>A, NM_001144984.3:c.382G>A, NM_001144984.2:c.382G>A, NM_001198908.2:c.682G>A, NM_001198908.1:c.682G>A, NP_001138454.1:p.Gly126Arg, NP_001138455.1:p.Gly126Arg, NP_001138456.1:p.Gly128Arg, NP_001185837.1:p.Gly228Arg

Select item 143840173814.

rs1438401738 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:36227265 (GRCh38)
13:36801402 (GRCh37)
Canonical SPDI:: NC_000013.11:36227264:A:G
Gene:: CCDC169 (Varview), CCDC169-SOHLH2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.36227265A>G, NC_000013.10:g.36801402A>G, NM_001144982.3:c.356T>C, NM_001144982.2:c.356T>C, NM_001144983.3:c.356T>C, NM_001144983.2:c.356T>C, NM_001144984.3:c.362T>C, NM_001144984.2:c.362T>C, NM_001198908.2:c.662T>C, NM_001198908.1:c.662T>C, NP_001138454.1:p.Leu119Pro, NP_001138455.1:p.Leu119Pro, NP_001138456.1:p.Leu121Pro, NP_001185837.1:p.Leu221Pro

Select item 142889664715.

rs1428896647 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 13:36248665 (GRCh38)
13:36822802 (GRCh37)
Canonical SPDI:: NC_000013.11:36248664:T:A
Gene:: CCDC169 (Varview), CCDC169-SOHLH2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.36248665T>A, NC_000013.10:g.36822802T>A, NM_001144982.3:c.180A>T, NM_001144982.2:c.180A>T, NM_001144983.3:c.180A>T, NM_001144983.2:c.180A>T, NM_001144984.3:c.186A>T, NM_001144984.2:c.186A>T, NM_001144981.3:c.486A>T, NM_001144981.2:c.486A>T, NM_001144985.3:c.180A>T, NM_001144985.2:c.180A>T, NM_001144986.3:c.180A>T, NM_001144986.2:c.180A>T, NM_001198908.2:c.486A>T, NM_001198908.1:c.486A>T, NM_001198910.2:c.186A>T, NM_001198910.1:c.186A>T, NP_001138454.1:p.Gln60His, NP_001138455.1:p.Gln60His, NP_001138456.1:p.Gln62His, NP_001138453.1:p.Gln162His, NP_001138457.1:p.Gln60His, NP_001138458.1:p.Gln60His, NP_001185837.1:p.Gln162His, NP_001185839.1:p.Gln62His

Select item 142234065416.

rs1422340654 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:36227355 (GRCh38)
13:36801492 (GRCh37)
Canonical SPDI:: NC_000013.11:36227354:G:A
Gene:: CCDC169 (Varview), CCDC169-SOHLH2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.36227355G>A, NC_000013.10:g.36801492G>A, NM_001144982.3:c.266C>T, NM_001144982.2:c.266C>T, NM_001144983.3:c.266C>T, NM_001144983.2:c.266C>T, NM_001144984.3:c.272C>T, NM_001144984.2:c.272C>T, NM_001198908.2:c.572C>T, NM_001198908.1:c.572C>T, NM_001198910.2:c.272C>T, NM_001198910.1:c.272C>T, NP_001138454.1:p.Pro89Leu, NP_001138455.1:p.Pro89Leu, NP_001138456.1:p.Pro91Leu, NP_001185837.1:p.Pro191Leu, NP_001185839.1:p.Pro91Leu

Select item 141875202317.

rs1418752023 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:36227362 (GRCh38)
13:36801499 (GRCh37)
Canonical SPDI:: NC_000013.11:36227361:A:G
Gene:: CCDC169 (Varview), CCDC169-SOHLH2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000045/2 (ALFA)
G=0./0 (KOREAN)
G=0.000007/1 (GnomAD)
G=0.00002/3 (GnomAD_exomes)
G=0.000026/7 (TOPMED)
HGVS:: NC_000013.11:g.36227362A>G, NC_000013.10:g.36801499A>G, NM_001144982.3:c.259T>C, NM_001144982.2:c.259T>C, NM_001144983.3:c.259T>C, NM_001144983.2:c.259T>C, NM_001144984.3:c.265T>C, NM_001144984.2:c.265T>C, NM_001198908.2:c.565T>C, NM_001198908.1:c.565T>C, NM_001198910.2:c.265T>C, NM_001198910.1:c.265T>C

Select item 141712055418.

rs1417120554 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 13:36227211 (GRCh38)
13:36801348 (GRCh37)
Canonical SPDI:: NC_000013.11:36227210:A:T
Gene:: CCDC169 (Varview), CCDC169-SOHLH2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000108/2 (ALFA)
T=0.000007/1 (GnomAD_exomes)
T=0.000029/4 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000013.11:g.36227211A>T, NC_000013.10:g.36801348A>T, NM_001144982.3:c.410T>A, NM_001144982.2:c.410T>A, NM_001144983.3:c.410T>A, NM_001144983.2:c.410T>A, NM_001144984.3:c.416T>A, NM_001144984.2:c.416T>A, NM_001198908.2:c.716T>A, NM_001198908.1:c.716T>A, NP_001138454.1:p.Leu137Gln, NP_001138455.1:p.Leu137Gln, NP_001138456.1:p.Leu139Gln, NP_001185837.1:p.Leu239Gln

Select item 140866160719.

rs1408661607 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:36248677 (GRCh38)
13:36822814 (GRCh37)
Canonical SPDI:: NC_000013.11:36248676:A:G
Gene:: CCDC169 (Varview), CCDC169-SOHLH2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.36248677A>G, NC_000013.10:g.36822814A>G, NM_001144982.3:c.168T>C, NM_001144982.2:c.168T>C, NM_001144983.3:c.168T>C, NM_001144983.2:c.168T>C, NM_001144984.3:c.174T>C, NM_001144984.2:c.174T>C, NM_001144981.3:c.474T>C, NM_001144981.2:c.474T>C, NM_001144985.3:c.168T>C, NM_001144985.2:c.168T>C, NM_001144986.3:c.168T>C, NM_001144986.2:c.168T>C, NM_001198908.2:c.474T>C, NM_001198908.1:c.474T>C, NM_001198910.2:c.174T>C, NM_001198910.1:c.174T>C

Select item 139946474020.

rs1399464740 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:36227380 (GRCh38)
13:36801517 (GRCh37)
Canonical SPDI:: NC_000013.11:36227379:G:A
Gene:: CCDC169 (Varview), CCDC169-SOHLH2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000014/2 (GnomAD_exomes)
HGVS:: NC_000013.11:g.36227380G>A, NC_000013.10:g.36801517G>A, NM_001144982.3:c.241C>T, NM_001144982.2:c.241C>T, NM_001144983.3:c.241C>T, NM_001144983.2:c.241C>T, NM_001144984.3:c.247C>T, NM_001144984.2:c.247C>T, NM_001198908.2:c.547C>T, NM_001198908.1:c.547C>T, NM_001198910.2:c.247C>T, NM_001198910.1:c.247C>T, NP_001138454.1:p.Leu81Phe, NP_001138455.1:p.Leu81Phe, NP_001138456.1:p.Leu83Phe, NP_001185837.1:p.Leu183Phe, NP_001185839.1:p.Leu83Phe

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