SNP Links for Protein (Select 20270357) - SNP

Select item 14824935941.

rs1482493594 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:219209018 (GRCh38)
2:220073740 (GRCh37)
Canonical SPDI:: NC_000002.12:219209017:C:G,NC_000002.12:219209017:C:T
Gene:: ZFAND2B (Varview)
Functional Consequence:: stop_gained,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.219209018C>G, NC_000002.12:g.219209018C>T, NC_000002.11:g.220073740C>G, NC_000002.11:g.220073740C>T, NG_032110.1:g.14973G>C, NG_032110.1:g.14973G>A, NM_138802.3:c.698C>G, NM_138802.3:c.698C>T, NM_138802.2:c.698C>G, NM_138802.2:c.698C>T, XM_017003368.2:c.698C>G, XM_017003368.2:c.698C>T, XM_017003368.1:c.698C>G, XM_017003368.1:c.698C>T, NM_001270998.2:c.698C>G, NM_001270998.2:c.698C>T, NM_001270998.1:c.698C>G, NM_001270998.1:c.698C>T, NM_001270999.2:c.566C>G, NM_001270999.2:c.566C>T, NM_001270999.1:c.566C>G, NM_001270999.1:c.566C>T, NP_620157.1:p.Ser233Ter, NP_620157.1:p.Ser233Leu, XP_016858857.1:p.Ser233Ter, XP_016858857.1:p.Ser233Leu, NP_001257927.1:p.Ser233Ter, NP_001257927.1:p.Ser233Leu, NP_001257928.1:p.Ser189Ter, NP_001257928.1:p.Ser189Leu

Select item 14602328282.

rs1460232828 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:219207957 (GRCh38)
2:220072679 (GRCh37)
Canonical SPDI:: NC_000002.12:219207956:G:A
Gene:: ZFAND2B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.219207957G>A, NC_000002.11:g.220072679G>A, NG_032110.1:g.16034C>T, XM_006712286.4:c.353G>A, XM_006712286.3:c.353G>A, XM_006712286.2:c.353G>A, XM_006712286.1:c.353G>A, NM_138802.3:c.353G>A, NM_138802.2:c.353G>A, XM_017003368.2:c.353G>A, XM_017003368.1:c.353G>A, NM_001270998.2:c.353G>A, NM_001270998.1:c.353G>A, XM_006712285.2:c.353G>A, XM_006712285.1:c.353G>A, NM_001270999.2:c.221G>A, NM_001270999.1:c.221G>A, XP_006712349.1:p.Cys118Tyr, NP_620157.1:p.Cys118Tyr, XP_016858857.1:p.Cys118Tyr, NP_001257927.1:p.Cys118Tyr, XP_006712348.1:p.Cys118Tyr, NP_001257928.1:p.Cys74Tyr

Select item 14573358943.

rs1457335894 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:219207988 (GRCh38)
2:220072710 (GRCh37)
Canonical SPDI:: NC_000002.12:219207987:T:C
Gene:: ZFAND2B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000012/3 (GnomAD_exomes)
C=0.000026/7 (TOPMED)
C=0.00005/7 (GnomAD)
HGVS:: NC_000002.12:g.219207988T>C, NC_000002.11:g.220072710T>C, NG_032110.1:g.16003A>G, XM_006712286.4:c.384T>C, XM_006712286.3:c.384T>C, XM_006712286.2:c.384T>C, XM_006712286.1:c.384T>C, NM_138802.3:c.384T>C, NM_138802.2:c.384T>C, XM_017003368.2:c.384T>C, XM_017003368.1:c.384T>C, NM_001270998.2:c.384T>C, NM_001270998.1:c.384T>C, XM_006712285.2:c.384T>C, XM_006712285.1:c.384T>C, NM_001270999.2:c.252T>C, NM_001270999.1:c.252T>C

Select item 14543738144.

rs1454373814 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGGGG>- [Show Flanks]
Chromosome:: 2:219208014 (GRCh38)
2:220072736 (GRCh37)
Canonical SPDI:: NC_000002.12:219208009:GGGGAGGGG:GGGG
Gene:: ZFAND2B (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.219208014_219208018del, NC_000002.11:g.220072736_220072740del, NG_032110.1:g.15977_15981del, XM_006712286.4:c.410_414del, XM_006712286.3:c.410_414del, XM_006712286.2:c.410_414del, XM_006712286.1:c.410_414del, NM_138802.3:c.410_414del, NM_138802.2:c.410_414del, XM_017003368.2:c.410_414del, XM_017003368.1:c.410_414del, NM_001270998.2:c.410_414del, NM_001270998.1:c.410_414del, XM_006712285.2:c.410_414del, XM_006712285.1:c.410_414del, NM_001270999.2:c.278_282del, NM_001270999.1:c.278_282del, XP_006712349.1:p.Glu137fs, NP_620157.1:p.Glu137fs, XP_016858857.1:p.Glu137fs, NP_001257927.1:p.Glu137fs, XP_006712348.1:p.Glu137fs, NP_001257928.1:p.Glu93fs

Select item 14541966195.

rs1454196619 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:219207034 (GRCh38)
2:220071756 (GRCh37)
Canonical SPDI:: NC_000002.12:219207033:A:G
Gene:: ZFAND2B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.219207034A>G, NC_000002.11:g.220071756A>G, XM_006712286.4:c.47A>G, XM_006712286.3:c.47A>G, XM_006712286.2:c.47A>G, XM_006712286.1:c.47A>G, NM_138802.3:c.47A>G, NM_138802.2:c.47A>G, XM_017003368.2:c.47A>G, XM_017003368.1:c.47A>G, NM_001270998.2:c.47A>G, NM_001270998.1:c.47A>G, XM_006712285.2:c.47A>G, XM_006712285.1:c.47A>G, NM_001270999.2:c.47A>G, NM_001270999.1:c.47A>G, XP_006712349.1:p.Gln16Arg, NP_620157.1:p.Gln16Arg, XP_016858857.1:p.Gln16Arg, NP_001257927.1:p.Gln16Arg, XP_006712348.1:p.Gln16Arg, NP_001257928.1:p.Gln16Arg

Select item 14538358656.

rs1453835865 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:219207700 (GRCh38)
2:220072422 (GRCh37)
Canonical SPDI:: NC_000002.12:219207699:G:A
Gene:: ZFAND2B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.219207700G>A, NC_000002.11:g.220072422G>A, XM_006712286.4:c.203G>A, XM_006712286.3:c.203G>A, XM_006712286.2:c.203G>A, XM_006712286.1:c.203G>A, NM_138802.3:c.203G>A, NM_138802.2:c.203G>A, XM_017003368.2:c.203G>A, XM_017003368.1:c.203G>A, NM_001270998.2:c.203G>A, NM_001270998.1:c.203G>A, XM_006712285.2:c.203G>A, XM_006712285.1:c.203G>A, XP_006712349.1:p.Arg68Lys, NP_620157.1:p.Arg68Lys, XP_016858857.1:p.Arg68Lys, NP_001257927.1:p.Arg68Lys, XP_006712348.1:p.Arg68Lys

Select item 14503565097.

rs1450356509 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:219207946 (GRCh38)
2:220072668 (GRCh37)
Canonical SPDI:: NC_000002.12:219207945:C:T
Gene:: ZFAND2B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.219207946C>T, NC_000002.11:g.220072668C>T, NG_032110.1:g.16045G>A, XM_006712286.4:c.342C>T, XM_006712286.3:c.342C>T, XM_006712286.2:c.342C>T, XM_006712286.1:c.342C>T, NM_138802.3:c.342C>T, NM_138802.2:c.342C>T, XM_017003368.2:c.342C>T, XM_017003368.1:c.342C>T, NM_001270998.2:c.342C>T, NM_001270998.1:c.342C>T, XM_006712285.2:c.342C>T, XM_006712285.1:c.342C>T, NM_001270999.2:c.210C>T, NM_001270999.1:c.210C>T

Select item 14493437208.

rs1449343720 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:219208433 (GRCh38)
2:220073155 (GRCh37)
Canonical SPDI:: NC_000002.12:219208432:A:G
Gene:: ZFAND2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.219208433A>G, NC_000002.11:g.220073155A>G, NG_032110.1:g.15558T>C, XM_006712286.4:c.535A>G, XM_006712286.3:c.535A>G, XM_006712286.2:c.535A>G, XM_006712286.1:c.535A>G, NM_138802.3:c.535A>G, NM_138802.2:c.535A>G, XM_017003368.2:c.535A>G, XM_017003368.1:c.535A>G, NM_001270998.2:c.535A>G, NM_001270998.1:c.535A>G, XM_006712285.2:c.535A>G, XM_006712285.1:c.535A>G, NM_001270999.2:c.403A>G, NM_001270999.1:c.403A>G, XP_006712349.1:p.Thr179Ala, NP_620157.1:p.Thr179Ala, XP_016858857.1:p.Thr179Ala, NP_001257927.1:p.Thr179Ala, XP_006712348.1:p.Thr179Ala, NP_001257928.1:p.Thr135Ala

Select item 14395093509.

rs1439509350 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:219207016 (GRCh38)
2:220071738 (GRCh37)
Canonical SPDI:: NC_000002.12:219207015:G:A
Gene:: ZFAND2B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000002.12:g.219207016G>A, NC_000002.11:g.220071738G>A, XM_006712286.4:c.29G>A, XM_006712286.3:c.29G>A, XM_006712286.2:c.29G>A, XM_006712286.1:c.29G>A, NM_138802.3:c.29G>A, NM_138802.2:c.29G>A, XM_017003368.2:c.29G>A, XM_017003368.1:c.29G>A, NM_001270998.2:c.29G>A, NM_001270998.1:c.29G>A, XM_006712285.2:c.29G>A, XM_006712285.1:c.29G>A, NM_001270999.2:c.29G>A, NM_001270999.1:c.29G>A, XP_006712349.1:p.Cys10Tyr, NP_620157.1:p.Cys10Tyr, XP_016858857.1:p.Cys10Tyr, NP_001257927.1:p.Cys10Tyr, XP_006712348.1:p.Cys10Tyr, NP_001257928.1:p.Cys10Tyr

Select item 143882928710.

rs1438829287 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:219209302 (GRCh38)
2:220074024 (GRCh37)
Canonical SPDI:: NC_000002.12:219209301:G:A
Gene:: ABCB6 (Varview), ZFAND2B (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant,missense_variant
HGVS:: NC_000002.12:g.219209302G>A, NC_000002.11:g.220074024G>A, NG_032110.1:g.14689C>T, XM_006712286.4:c.697G>A, XM_006712286.3:c.697G>A, XM_006712286.2:c.697G>A, XM_006712286.1:c.697G>A, NM_138802.3:c.770G>A, NM_138802.2:c.770G>A, XM_017003368.2:c.770G>A, XM_017003368.1:c.770G>A, NM_001270998.2:c.770G>A, NM_001270998.1:c.770G>A, XM_006712285.2:c.697G>A, XM_006712285.1:c.697G>A, NM_001270999.2:c.638G>A, NM_001270999.1:c.638G>A, XP_006712349.1:p.Ala233Thr, NP_620157.1:p.Cys257Tyr, XP_016858857.1:p.Cys257Tyr, NP_001257927.1:p.Cys257Tyr, XP_006712348.1:p.Ala233Thr, NP_001257928.1:p.Cys213Tyr

Select item 143876364311.

rs1438763643 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:219208278 (GRCh38)
2:220073000 (GRCh37)
Canonical SPDI:: NC_000002.12:219208277:C:T
Gene:: ZFAND2B (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.219208278C>T, NC_000002.11:g.220073000C>T, NG_032110.1:g.15713G>A, XM_006712286.4:c.457C>T, XM_006712286.3:c.457C>T, XM_006712286.2:c.457C>T, XM_006712286.1:c.457C>T, NM_138802.3:c.457C>T, NM_138802.2:c.457C>T, XM_017003368.2:c.457C>T, XM_017003368.1:c.457C>T, NM_001270998.2:c.457C>T, NM_001270998.1:c.457C>T, XM_006712285.2:c.457C>T, XM_006712285.1:c.457C>T, NM_001270999.2:c.325C>T, NM_001270999.1:c.325C>T, XP_006712349.1:p.Gln153Ter, NP_620157.1:p.Gln153Ter, XP_016858857.1:p.Gln153Ter, NP_001257927.1:p.Gln153Ter, XP_006712348.1:p.Gln153Ter, NP_001257928.1:p.Gln109Ter

Select item 142524011812.

rs1425240118 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:219208629 (GRCh38)
2:220073351 (GRCh37)
Canonical SPDI:: NC_000002.12:219208628:C:G
Gene:: ZFAND2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.219208629C>G, NC_000002.11:g.220073351C>G, NG_032110.1:g.15362G>C, XM_006712286.4:c.646C>G, XM_006712286.3:c.646C>G, XM_006712286.2:c.646C>G, XM_006712286.1:c.646C>G, NM_138802.3:c.646C>G, NM_138802.2:c.646C>G, XM_017003368.2:c.646C>G, XM_017003368.1:c.646C>G, NM_001270998.2:c.646C>G, NM_001270998.1:c.646C>G, XM_006712285.2:c.646C>G, XM_006712285.1:c.646C>G, NM_001270999.2:c.514C>G, NM_001270999.1:c.514C>G, XP_006712349.1:p.Gln216Glu, NP_620157.1:p.Gln216Glu, XP_016858857.1:p.Gln216Glu, NP_001257927.1:p.Gln216Glu, XP_006712348.1:p.Gln216Glu, NP_001257928.1:p.Gln172Glu

Select item 141711559513.

rs1417115595 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:219207921 (GRCh38)
2:220072643 (GRCh37)
Canonical SPDI:: NC_000002.12:219207920:G:A
Gene:: ZFAND2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.219207921G>A, NC_000002.11:g.220072643G>A, NG_032110.1:g.16070C>T, XM_006712286.4:c.317G>A, XM_006712286.3:c.317G>A, XM_006712286.2:c.317G>A, XM_006712286.1:c.317G>A, NM_138802.3:c.317G>A, NM_138802.2:c.317G>A, XM_017003368.2:c.317G>A, XM_017003368.1:c.317G>A, NM_001270998.2:c.317G>A, NM_001270998.1:c.317G>A, XM_006712285.2:c.317G>A, XM_006712285.1:c.317G>A, NM_001270999.2:c.185G>A, NM_001270999.1:c.185G>A, XP_006712349.1:p.Arg106Gln, NP_620157.1:p.Arg106Gln, XP_016858857.1:p.Arg106Gln, NP_001257927.1:p.Arg106Gln, XP_006712348.1:p.Arg106Gln, NP_001257928.1:p.Arg62Gln

Select item 141545318114.

rs1415453181 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:219208486 (GRCh38)
2:220073208 (GRCh37)
Canonical SPDI:: NC_000002.12:219208485:G:A,NC_000002.12:219208485:G:T
Gene:: ZFAND2B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.219208486G>A, NC_000002.12:g.219208486G>T, NC_000002.11:g.220073208G>A, NC_000002.11:g.220073208G>T, NG_032110.1:g.15505C>T, NG_032110.1:g.15505C>A, XM_006712286.4:c.588G>A, XM_006712286.4:c.588G>T, XM_006712286.3:c.588G>A, XM_006712286.3:c.588G>T, XM_006712286.2:c.588G>A, XM_006712286.2:c.588G>T, XM_006712286.1:c.588G>A, XM_006712286.1:c.588G>T, NM_138802.3:c.588G>A, NM_138802.3:c.588G>T, NM_138802.2:c.588G>A, NM_138802.2:c.588G>T, XM_017003368.2:c.588G>A, XM_017003368.2:c.588G>T, XM_017003368.1:c.588G>A, XM_017003368.1:c.588G>T, NM_001270998.2:c.588G>A, NM_001270998.2:c.588G>T, NM_001270998.1:c.588G>A, NM_001270998.1:c.588G>T, XM_006712285.2:c.588G>A, XM_006712285.2:c.588G>T, XM_006712285.1:c.588G>A, XM_006712285.1:c.588G>T, NM_001270999.2:c.456G>A, NM_001270999.2:c.456G>T, NM_001270999.1:c.456G>A, NM_001270999.1:c.456G>T

Select item 141281074415.

rs1412810744 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:219208470 (GRCh38)
2:220073192 (GRCh37)
Canonical SPDI:: NC_000002.12:219208469:C:T
Gene:: ZFAND2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.219208470C>T, NC_000002.11:g.220073192C>T, NG_032110.1:g.15521G>A, XM_006712286.4:c.572C>T, XM_006712286.3:c.572C>T, XM_006712286.2:c.572C>T, XM_006712286.1:c.572C>T, NM_138802.3:c.572C>T, NM_138802.2:c.572C>T, XM_017003368.2:c.572C>T, XM_017003368.1:c.572C>T, NM_001270998.2:c.572C>T, NM_001270998.1:c.572C>T, XM_006712285.2:c.572C>T, XM_006712285.1:c.572C>T, NM_001270999.2:c.440C>T, NM_001270999.1:c.440C>T, XP_006712349.1:p.Ala191Val, NP_620157.1:p.Ala191Val, XP_016858857.1:p.Ala191Val, NP_001257927.1:p.Ala191Val, XP_006712348.1:p.Ala191Val, NP_001257928.1:p.Ala147Val

Select item 141201980816.

rs1412019808 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:219207765 (GRCh38)
2:220072487 (GRCh37)
Canonical SPDI:: NC_000002.12:219207764:C:G
Gene:: ZFAND2B (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.219207765C>G, NC_000002.11:g.220072487C>G, XM_006712286.4:c.268C>G, XM_006712286.3:c.268C>G, XM_006712286.2:c.268C>G, XM_006712286.1:c.268C>G, NM_138802.3:c.268C>G, NM_138802.2:c.268C>G, XM_017003368.2:c.268C>G, XM_017003368.1:c.268C>G, NM_001270998.2:c.268C>G, NM_001270998.1:c.268C>G, XM_006712285.2:c.268C>G, XM_006712285.1:c.268C>G, XP_006712349.1:p.Gln90Glu, NP_620157.1:p.Gln90Glu, XP_016858857.1:p.Gln90Glu, NP_001257927.1:p.Gln90Glu, XP_006712348.1:p.Gln90Glu

Select item 140715351117.

rs1407153511 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:219208343 (GRCh38)
2:220073065 (GRCh37)
Canonical SPDI:: NC_000002.12:219208342:C:G
Gene:: ZFAND2B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.219208343C>G, NC_000002.11:g.220073065C>G, NG_032110.1:g.15648G>C, XM_006712286.4:c.522C>G, XM_006712286.3:c.522C>G, XM_006712286.2:c.522C>G, XM_006712286.1:c.522C>G, NM_138802.3:c.522C>G, NM_138802.2:c.522C>G, XM_017003368.2:c.522C>G, XM_017003368.1:c.522C>G, NM_001270998.2:c.522C>G, NM_001270998.1:c.522C>G, XM_006712285.2:c.522C>G, XM_006712285.1:c.522C>G, NM_001270999.2:c.390C>G, NM_001270999.1:c.390C>G

Select item 140440358418.

rs1404403584 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:219208322 (GRCh38)
2:220073044 (GRCh37)
Canonical SPDI:: NC_000002.12:219208321:C:T
Gene:: ZFAND2B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000002.12:g.219208322C>T, NC_000002.11:g.220073044C>T, NG_032110.1:g.15669G>A, XM_006712286.4:c.501C>T, XM_006712286.3:c.501C>T, XM_006712286.2:c.501C>T, XM_006712286.1:c.501C>T, NM_138802.3:c.501C>T, NM_138802.2:c.501C>T, XM_017003368.2:c.501C>T, XM_017003368.1:c.501C>T, NM_001270998.2:c.501C>T, NM_001270998.1:c.501C>T, XM_006712285.2:c.501C>T, XM_006712285.1:c.501C>T, NM_001270999.2:c.369C>T, NM_001270999.1:c.369C>T

Select item 140349640219.

rs1403496402 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:219208007 (GRCh38)
2:220072729 (GRCh37)
Canonical SPDI:: NC_000002.12:219208006:T:C
Gene:: ZFAND2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.219208007T>C, NC_000002.11:g.220072729T>C, NG_032110.1:g.15984A>G, XM_006712286.4:c.403T>C, XM_006712286.3:c.403T>C, XM_006712286.2:c.403T>C, XM_006712286.1:c.403T>C, NM_138802.3:c.403T>C, NM_138802.2:c.403T>C, XM_017003368.2:c.403T>C, XM_017003368.1:c.403T>C, NM_001270998.2:c.403T>C, NM_001270998.1:c.403T>C, XM_006712285.2:c.403T>C, XM_006712285.1:c.403T>C, NM_001270999.2:c.271T>C, NM_001270999.1:c.271T>C, XP_006712349.1:p.Ser135Pro, NP_620157.1:p.Ser135Pro, XP_016858857.1:p.Ser135Pro, NP_001257927.1:p.Ser135Pro, XP_006712348.1:p.Ser135Pro, NP_001257928.1:p.Ser91Pro

Select item 140342584920.

rs1403425849 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:219207030 (GRCh38)
2:220071752 (GRCh37)
Canonical SPDI:: NC_000002.12:219207029:T:C
Gene:: ZFAND2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000094/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.219207030T>C, NC_000002.11:g.220071752T>C, XM_006712286.4:c.43T>C, XM_006712286.3:c.43T>C, XM_006712286.2:c.43T>C, XM_006712286.1:c.43T>C, NM_138802.3:c.43T>C, NM_138802.2:c.43T>C, XM_017003368.2:c.43T>C, XM_017003368.1:c.43T>C, NM_001270998.2:c.43T>C, NM_001270998.1:c.43T>C, XM_006712285.2:c.43T>C, XM_006712285.1:c.43T>C, NM_001270999.2:c.43T>C, NM_001270999.1:c.43T>C, XP_006712349.1:p.Cys15Arg, NP_620157.1:p.Cys15Arg, XP_016858857.1:p.Cys15Arg, NP_001257927.1:p.Cys15Arg, XP_006712348.1:p.Cys15Arg, NP_001257928.1:p.Cys15Arg

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dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 270

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