SNP Links for Protein (Select 4885257) - SNP

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Links from Protein

Items: 1 to 20 of 91

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Select item 14907133121.

rs1490713312 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:40767242 (GRCh38)
15:41059440 (GRCh37)
Canonical SPDI:: NC_000015.10:40767241:G:A
Gene:: GCHFR (Varview), DNAJC17 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.40767242G>A, NC_000015.9:g.41059440G>A, NM_018163.3:c.*698C>T, NM_005258.3:c.148G>A, NM_005258.2:c.148G>A, NP_005249.1:p.Asp50Asn

Select item 14869255202.

rs1486925520 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:40764190 (GRCh38)
15:41056388 (GRCh37)
Canonical SPDI:: NC_000015.10:40764189:C:T
Gene:: GCHFR (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.00018/3 (TOMMO)
T=0.00056/1 (Korea1K)
HGVS:: NC_000015.10:g.40764190C>T, NC_000015.9:g.41056388C>T, NM_005258.3:c.10C>T, NM_005258.2:c.10C>T

Select item 14858646503.

rs1485864650 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 15:40765862 (GRCh38)
15:41058060 (GRCh37)
Canonical SPDI:: NC_000015.10:40765861:G:A,NC_000015.10:40765861:G:T
Gene:: GCHFR (Varview), DNAJC17 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000015.10:g.40765862G>A, NC_000015.10:g.40765862G>T, NC_000015.9:g.41058060G>A, NC_000015.9:g.41058060G>T, NM_018163.3:c.*2078C>T, NM_018163.3:c.*2078C>A, NM_005258.3:c.72G>A, NM_005258.3:c.72G>T, NM_005258.2:c.72G>A, NM_005258.2:c.72G>T

Select item 14763176164.

rs1476317616 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:40765884 (GRCh38)
15:41058082 (GRCh37)
Canonical SPDI:: NC_000015.10:40765883:C:G
Gene:: GCHFR (Varview), DNAJC17 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.40765884C>G, NC_000015.9:g.41058082C>G, NM_018163.3:c.*2056G>C, NM_005258.3:c.94C>G, NM_005258.2:c.94C>G, NP_005249.1:p.Leu32Val

Select item 14483737695.

rs1448373769 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:40764185 (GRCh38)
15:41056383 (GRCh37)
Canonical SPDI:: NC_000015.10:40764184:C:T
Gene:: GCHFR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.40764185C>T, NC_000015.9:g.41056383C>T, NM_005258.3:c.5C>T, NM_005258.2:c.5C>T, NP_005249.1:p.Pro2Leu

Select item 14385635216.

rs1438563521 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:40767285 (GRCh38)
15:41059483 (GRCh37)
Canonical SPDI:: NC_000015.10:40767284:G:A
Gene:: GCHFR (Varview), DNAJC17 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.40767285G>A, NC_000015.9:g.41059483G>A, NM_018163.3:c.*655C>T, NM_005258.3:c.191G>A, NM_005258.2:c.191G>A, NP_005249.1:p.Gly64Asp

Select item 14319363537.

rs1431936353 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:40765891 (GRCh38)
15:41058089 (GRCh37)
Canonical SPDI:: NC_000015.10:40765890:C:T
Gene:: GCHFR (Varview), DNAJC17 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.40765891C>T, NC_000015.9:g.41058089C>T, NM_018163.3:c.*2049G>A, NM_005258.3:c.101C>T, NM_005258.2:c.101C>T, NP_005249.1:p.Ala34Val

Select item 14104323798.

rs1410432379 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:40767251 (GRCh38)
15:41059449 (GRCh37)
Canonical SPDI:: NC_000015.10:40767250:C:T
Gene:: GCHFR (Varview), DNAJC17 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.40767251C>T, NC_000015.9:g.41059449C>T, NM_018163.3:c.*689G>A, NM_005258.3:c.157C>T, NM_005258.2:c.157C>T, NP_005249.1:p.Pro53Ser

Select item 14084988409.

rs1408498840 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:40764215 (GRCh38)
15:41056413 (GRCh37)
Canonical SPDI:: NC_000015.10:40764214:T:C
Gene:: GCHFR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000006/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.40764215T>C, NC_000015.9:g.41056413T>C, NM_005258.3:c.35T>C, NM_005258.2:c.35T>C, NP_005249.1:p.Met12Thr

Select item 139455429710.

rs1394554297 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:40767256 (GRCh38)
15:41059454 (GRCh37)
Canonical SPDI:: NC_000015.10:40767255:C:T
Gene:: GCHFR (Varview), DNAJC17 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.40767256C>T, NC_000015.9:g.41059454C>T, NM_018163.3:c.*684G>A, NM_005258.3:c.162C>T, NM_005258.2:c.162C>T

Select item 138787101311.

rs1387871013 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:40765910 (GRCh38)
15:41058108 (GRCh37)
Canonical SPDI:: NC_000015.10:40765909:G:T
Gene:: GCHFR (Varview), DNAJC17 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.40765910G>T, NC_000015.9:g.41058108G>T, NM_018163.3:c.*2030C>A, NM_005258.3:c.120G>T, NM_005258.2:c.120G>T, NP_005249.1:p.Leu40Phe

Select item 137648401912.

rs1376484019 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:40765915 (GRCh38)
15:41058113 (GRCh37)
Canonical SPDI:: NC_000015.10:40765914:A:G
Gene:: GCHFR (Varview), DNAJC17 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.40765915A>G, NC_000015.9:g.41058113A>G, NM_018163.3:c.*2025T>C, NM_005258.3:c.125A>G, NM_005258.2:c.125A>G, NP_005249.1:p.Asn42Ser

Select item 136532540813.

rs1365325408 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:40764186 (GRCh38)
15:41056384 (GRCh37)
Canonical SPDI:: NC_000015.10:40764185:C:T
Gene:: GCHFR (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000106/3 (TOMMO)
HGVS:: NC_000015.10:g.40764186C>T, NC_000015.9:g.41056384C>T, NM_005258.3:c.6C>T, NM_005258.2:c.6C>T

Select item 135570691414.

rs1355706914 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:40767282 (GRCh38)
15:41059480 (GRCh37)
Canonical SPDI:: NC_000015.10:40767281:G:A
Gene:: GCHFR (Varview), DNAJC17 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.40767282G>A, NC_000015.9:g.41059480G>A, NM_018163.3:c.*658C>T, NM_005258.3:c.188G>A, NM_005258.2:c.188G>A, NP_005249.1:p.Arg63Lys

Select item 134838296315.

rs1348382963 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:40767325 (GRCh38)
15:41059523 (GRCh37)
Canonical SPDI:: NC_000015.10:40767324:G:C
Gene:: GCHFR (Varview), DNAJC17 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000015.10:g.40767325G>C, NC_000015.9:g.41059523G>C, NM_018163.3:c.*615C>G, NM_005258.3:c.231G>C, NM_005258.2:c.231G>C

Select item 134103146316.

rs1341031463 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:40765858 (GRCh38)
15:41058056 (GRCh37)
Canonical SPDI:: NC_000015.10:40765857:A:G
Gene:: GCHFR (Varview), DNAJC17 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.40765858A>G, NC_000015.9:g.41058056A>G, NM_018163.3:c.*2082T>C, NM_005258.3:c.68A>G, NM_005258.2:c.68A>G, NP_005249.1:p.Gln23Arg

Select item 132338207717.

rs1323382077 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:40765875 (GRCh38)
15:41058073 (GRCh37)
Canonical SPDI:: NC_000015.10:40765874:A:G
Gene:: GCHFR (Varview), DNAJC17 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.0002/1 (ALFA)
HGVS:: NC_000015.10:g.40765875A>G, NC_000015.9:g.41058073A>G, NM_018163.3:c.*2065T>C, NM_005258.3:c.85A>G, NM_005258.2:c.85A>G, NP_005249.1:p.Met29Val

Select item 132243991818.

rs1322439918 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:40767304 (GRCh38)
15:41059502 (GRCh37)
Canonical SPDI:: NC_000015.10:40767303:G:A
Gene:: GCHFR (Varview), DNAJC17 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,missense_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_000015.10:g.40767304G>A, NC_000015.9:g.41059502G>A, NM_018163.3:c.*636C>T, NM_005258.3:c.210G>A, NM_005258.2:c.210G>A, NP_005249.1:p.Met70Ile

Select item 130398676419.

rs1303986764 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:40765911 (GRCh38)
15:41058109 (GRCh37)
Canonical SPDI:: NC_000015.10:40765910:G:T
Gene:: GCHFR (Varview), DNAJC17 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,stop_gained,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.40765911G>T, NC_000015.9:g.41058109G>T, NM_018163.3:c.*2029C>A, NM_005258.3:c.121G>T, NM_005258.2:c.121G>T, NP_005249.1:p.Gly41Ter

Select item 129186101620.

rs1291861016 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:40767252 (GRCh38)
15:41059450 (GRCh37)
Canonical SPDI:: NC_000015.10:40767251:C:A
Gene:: GCHFR (Varview), DNAJC17 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000028/1 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.40767252C>A, NC_000015.9:g.41059450C>A, NM_018163.3:c.*688G>T, NM_005258.3:c.158C>A, NM_005258.2:c.158C>A, NP_005249.1:p.Pro53His