SNP Links for Protein (Select 385719210) - SNP

Links from Protein

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Select item 14866301811.

rs1486630181 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:44901539 (GRCh38)
17:42978907 (GRCh37)
Canonical SPDI:: NC_000017.11:44901538:C:T
Gene:: CCDC103 (Varview), FAM187A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.44901539C>T, NC_000017.10:g.42978907C>T, NG_032674.1:g.3087G>A, NG_032792.1:g.6828C>T, NM_001258397.3:c.163C>T, NM_001258397.2:c.163C>T, NM_001258397.1:c.163C>T, NM_213607.3:c.163C>T, NM_213607.2:c.163C>T, NM_001258398.3:c.163C>T, NM_001258398.2:c.163C>T, NM_001258398.1:c.163C>T, NM_001258399.2:c.163C>T, NM_001258399.1:c.163C>T, NM_001258396.2:c.163C>T, NM_001258396.1:c.163C>T, NM_001258395.2:c.163C>T, NM_001258395.1:c.163C>T, NP_001245326.1:p.His55Tyr, NP_998772.1:p.His55Tyr, NP_001245327.1:p.His55Tyr, NP_001245328.1:p.His55Tyr, NP_001245325.1:p.His55Tyr, NP_001245324.1:p.His55Tyr

Select item 14794354972.

rs1479435497 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:44901099 (GRCh38)
17:42978467 (GRCh37)
Canonical SPDI:: NC_000017.11:44901098:T:C
Gene:: EFTUD2 (Varview), CCDC103 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.44901099T>C, NC_000017.10:g.42978467T>C, NG_032674.1:g.3527A>G, NG_032792.1:g.6388T>C, NM_001258397.3:c.101T>C, NM_001258397.2:c.101T>C, NM_001258397.1:c.101T>C, NM_213607.3:c.101T>C, NM_213607.2:c.101T>C, NM_001258398.3:c.101T>C, NM_001258398.2:c.101T>C, NM_001258398.1:c.101T>C, NM_001258399.2:c.101T>C, NM_001258399.1:c.101T>C, NM_001258396.2:c.101T>C, NM_001258396.1:c.101T>C, NM_001258395.2:c.101T>C, NM_001258395.1:c.101T>C, NP_001245326.1:p.Leu34Ser, NP_998772.1:p.Leu34Ser, NP_001245327.1:p.Leu34Ser, NP_001245328.1:p.Leu34Ser, NP_001245325.1:p.Leu34Ser, NP_001245324.1:p.Leu34Ser

Select item 14775559823.

rs1477555982 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:44901022 (GRCh38)
17:42978390 (GRCh37)
Canonical SPDI:: NC_000017.11:44901021:C:T
Gene:: EFTUD2 (Varview), CCDC103 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000017.11:g.44901022C>T, NC_000017.10:g.42978390C>T, NG_032674.1:g.3604G>A, NG_032792.1:g.6311C>T, NM_001258397.3:c.24C>T, NM_001258397.2:c.24C>T, NM_001258397.1:c.24C>T, NM_213607.3:c.24C>T, NM_213607.2:c.24C>T, NM_001258398.3:c.24C>T, NM_001258398.2:c.24C>T, NM_001258398.1:c.24C>T, NM_001258399.2:c.24C>T, NM_001258399.1:c.24C>T, NM_001258396.2:c.24C>T, NM_001258396.1:c.24C>T, NM_001258395.2:c.24C>T, NM_001258395.1:c.24C>T

Select item 14772407584.

rs1477240758 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:44901615 (GRCh38)
17:42978983 (GRCh37)
Canonical SPDI:: NC_000017.11:44901614:G:A
Gene:: CCDC103 (Varview), FAM187A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.44901615G>A, NC_000017.10:g.42978983G>A, NG_032674.1:g.3011C>T, NG_032792.1:g.6904G>A, NM_001258397.3:c.239G>A, NM_001258397.2:c.239G>A, NM_001258397.1:c.239G>A, NM_213607.3:c.239G>A, NM_213607.2:c.239G>A, NM_001258398.3:c.239G>A, NM_001258398.2:c.239G>A, NM_001258398.1:c.239G>A, NM_001258399.2:c.239G>A, NM_001258399.1:c.239G>A, NM_001258396.2:c.239G>A, NM_001258396.1:c.239G>A, NM_001258395.2:c.239G>A, NM_001258395.1:c.239G>A, NP_001245326.1:p.Gly80Glu, NP_998772.1:p.Gly80Glu, NP_001245327.1:p.Gly80Glu, NP_001245328.1:p.Gly80Glu, NP_001245325.1:p.Gly80Glu, NP_001245324.1:p.Gly80Glu

Select item 14765687955.

rs1476568795 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:44901063 (GRCh38)
17:42978431 (GRCh37)
Canonical SPDI:: NC_000017.11:44901062:C:A
Gene:: EFTUD2 (Varview), CCDC103 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.44901063C>A, NC_000017.10:g.42978431C>A, NG_032674.1:g.3563G>T, NG_032792.1:g.6352C>A, NM_001258397.3:c.65C>A, NM_001258397.2:c.65C>A, NM_001258397.1:c.65C>A, NM_213607.3:c.65C>A, NM_213607.2:c.65C>A, NM_001258398.3:c.65C>A, NM_001258398.2:c.65C>A, NM_001258398.1:c.65C>A, NM_001258399.2:c.65C>A, NM_001258399.1:c.65C>A, NM_001258396.2:c.65C>A, NM_001258396.1:c.65C>A, NM_001258395.2:c.65C>A, NM_001258395.1:c.65C>A, NP_001245326.1:p.Ala22Asp, NP_998772.1:p.Ala22Asp, NP_001245327.1:p.Ala22Asp, NP_001245328.1:p.Ala22Asp, NP_001245325.1:p.Ala22Asp, NP_001245324.1:p.Ala22Asp

Select item 14759022726.

rs1475902272 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACA>- [Show Flanks]
Chromosome:: 17:44901112 (GRCh38)
17:42978480 (GRCh37)
Canonical SPDI:: NC_000017.11:44901110:AACA:A
Gene:: EFTUD2 (Varview), CCDC103 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.44901112_44901114del, NC_000017.10:g.42978480_42978482del, NG_032674.1:g.3513_3515del, NG_032792.1:g.6401_6403del, NM_001258397.3:c.114_116del, NM_001258397.2:c.114_116del, NM_001258397.1:c.114_116del, NM_213607.3:c.114_116del, NM_213607.2:c.114_116del, NM_001258398.3:c.114_116del, NM_001258398.2:c.114_116del, NM_001258398.1:c.114_116del, NM_001258399.2:c.114_116del, NM_001258399.1:c.114_116del, NM_001258396.2:c.114_116del, NM_001258396.1:c.114_116del, NM_001258395.2:c.114_116del, NM_001258395.1:c.114_116del, NP_001245326.1:p.Gln39del, NP_998772.1:p.Gln39del, NP_001245327.1:p.Gln39del, NP_001245328.1:p.Gln39del, NP_001245325.1:p.Gln39del, NP_001245324.1:p.Gln39del

Select item 14680458517.

rs1468045851 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:44901590 (GRCh38)
17:42978958 (GRCh37)
Canonical SPDI:: NC_000017.11:44901589:C:T
Gene:: CCDC103 (Varview), FAM187A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.44901590C>T, NC_000017.10:g.42978958C>T, NG_032674.1:g.3036G>A, NG_032792.1:g.6879C>T, NM_001258397.3:c.214C>T, NM_001258397.2:c.214C>T, NM_001258397.1:c.214C>T, NM_213607.3:c.214C>T, NM_213607.2:c.214C>T, NM_001258398.3:c.214C>T, NM_001258398.2:c.214C>T, NM_001258398.1:c.214C>T, NM_001258399.2:c.214C>T, NM_001258399.1:c.214C>T, NM_001258396.2:c.214C>T, NM_001258396.1:c.214C>T, NM_001258395.2:c.214C>T, NM_001258395.1:c.214C>T, NP_001245326.1:p.Pro72Ser, NP_998772.1:p.Pro72Ser, NP_001245327.1:p.Pro72Ser, NP_001245328.1:p.Pro72Ser, NP_001245325.1:p.Pro72Ser, NP_001245324.1:p.Pro72Ser

Select item 14637380558.

rs1463738055 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:44901013 (GRCh38)
17:42978381 (GRCh37)
Canonical SPDI:: NC_000017.11:44901012:C:T
Gene:: EFTUD2 (Varview), CCDC103 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.44901013C>T, NC_000017.10:g.42978381C>T, NG_032674.1:g.3613G>A, NG_032792.1:g.6302C>T, NM_001258397.3:c.15C>T, NM_001258397.2:c.15C>T, NM_001258397.1:c.15C>T, NM_213607.3:c.15C>T, NM_213607.2:c.15C>T, NM_001258398.3:c.15C>T, NM_001258398.2:c.15C>T, NM_001258398.1:c.15C>T, NM_001258399.2:c.15C>T, NM_001258399.1:c.15C>T, NM_001258396.2:c.15C>T, NM_001258396.1:c.15C>T, NM_001258395.2:c.15C>T, NM_001258395.1:c.15C>T

Select item 14508771119.

rs1450877111 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:44901096 (GRCh38)
17:42978464 (GRCh37)
Canonical SPDI:: NC_000017.11:44901095:A:G
Gene:: EFTUD2 (Varview), CCDC103 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
HGVS:: NC_000017.11:g.44901096A>G, NC_000017.10:g.42978464A>G, NG_032674.1:g.3530T>C, NG_032792.1:g.6385A>G, NM_001258397.3:c.98A>G, NM_001258397.2:c.98A>G, NM_001258397.1:c.98A>G, NM_213607.3:c.98A>G, NM_213607.2:c.98A>G, NM_001258398.3:c.98A>G, NM_001258398.2:c.98A>G, NM_001258398.1:c.98A>G, NM_001258399.2:c.98A>G, NM_001258399.1:c.98A>G, NM_001258396.2:c.98A>G, NM_001258396.1:c.98A>G, NM_001258395.2:c.98A>G, NM_001258395.1:c.98A>G, NP_001245326.1:p.Lys33Arg, NP_998772.1:p.Lys33Arg, NP_001245327.1:p.Lys33Arg, NP_001245328.1:p.Lys33Arg, NP_001245325.1:p.Lys33Arg, NP_001245324.1:p.Lys33Arg

Select item 142688118310.

rs1426881183 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:44901605 (GRCh38)
17:42978973 (GRCh37)
Canonical SPDI:: NC_000017.11:44901604:A:G
Gene:: CCDC103 (Varview), FAM187A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.44901605A>G, NC_000017.10:g.42978973A>G, NG_032674.1:g.3021T>C, NG_032792.1:g.6894A>G, NM_001258397.3:c.229A>G, NM_001258397.2:c.229A>G, NM_001258397.1:c.229A>G, NM_213607.3:c.229A>G, NM_213607.2:c.229A>G, NM_001258398.3:c.229A>G, NM_001258398.2:c.229A>G, NM_001258398.1:c.229A>G, NM_001258399.2:c.229A>G, NM_001258399.1:c.229A>G, NM_001258396.2:c.229A>G, NM_001258396.1:c.229A>G, NM_001258395.2:c.229A>G, NM_001258395.1:c.229A>G, NP_001245326.1:p.Thr77Ala, NP_998772.1:p.Thr77Ala, NP_001245327.1:p.Thr77Ala, NP_001245328.1:p.Thr77Ala, NP_001245325.1:p.Thr77Ala, NP_001245324.1:p.Thr77Ala

Select item 142388778611.

rs1423887786 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:44901069 (GRCh38)
17:42978437 (GRCh37)
Canonical SPDI:: NC_000017.11:44901068:A:G
Gene:: EFTUD2 (Varview), CCDC103 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.44901069A>G, NC_000017.10:g.42978437A>G, NG_032674.1:g.3557T>C, NG_032792.1:g.6358A>G, NM_001258397.3:c.71A>G, NM_001258397.2:c.71A>G, NM_001258397.1:c.71A>G, NM_213607.3:c.71A>G, NM_213607.2:c.71A>G, NM_001258398.3:c.71A>G, NM_001258398.2:c.71A>G, NM_001258398.1:c.71A>G, NM_001258399.2:c.71A>G, NM_001258399.1:c.71A>G, NM_001258396.2:c.71A>G, NM_001258396.1:c.71A>G, NM_001258395.2:c.71A>G, NM_001258395.1:c.71A>G, NP_001245326.1:p.Glu24Gly, NP_998772.1:p.Glu24Gly, NP_001245327.1:p.Glu24Gly, NP_001245328.1:p.Glu24Gly, NP_001245325.1:p.Glu24Gly, NP_001245324.1:p.Glu24Gly

Select item 141471718212.

rs1414717182 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:44901578 (GRCh38)
17:42978946 (GRCh37)
Canonical SPDI:: NC_000017.11:44901577:A:G
Gene:: CCDC103 (Varview), FAM187A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.44901578A>G, NC_000017.10:g.42978946A>G, NG_032674.1:g.3048T>C, NG_032792.1:g.6867A>G, NM_001258397.3:c.202A>G, NM_001258397.2:c.202A>G, NM_001258397.1:c.202A>G, NM_213607.3:c.202A>G, NM_213607.2:c.202A>G, NM_001258398.3:c.202A>G, NM_001258398.2:c.202A>G, NM_001258398.1:c.202A>G, NM_001258399.2:c.202A>G, NM_001258399.1:c.202A>G, NM_001258396.2:c.202A>G, NM_001258396.1:c.202A>G, NM_001258395.2:c.202A>G, NM_001258395.1:c.202A>G, NP_001245326.1:p.Lys68Glu, NP_998772.1:p.Lys68Glu, NP_001245327.1:p.Lys68Glu, NP_001245328.1:p.Lys68Glu, NP_001245325.1:p.Lys68Glu, NP_001245324.1:p.Lys68Glu

Select item 140229096813.

rs1402290968 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:44902373 (GRCh38)
17:42979741 (GRCh37)
Canonical SPDI:: NC_000017.11:44902372:C:A
Gene:: CCDC103 (Varview), FAM187A (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,3_prime_UTR_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.44902373C>A, NC_000017.10:g.42979741C>A, NG_032674.1:g.2253G>T, NG_032792.1:g.7662C>A, NM_001258397.3:c.*35C>A, NM_001258397.2:c.*35C>A, NM_001258397.1:c.*35C>A, NM_213607.3:c.285C>A, NM_213607.2:c.285C>A, NM_001258398.3:c.286C>A, NM_001258398.2:c.286C>A, NM_001258398.1:c.286C>A, NM_001258399.2:c.289C>A, NM_001258399.1:c.289C>A, NM_001258396.2:c.285C>A, NM_001258396.1:c.285C>A, NM_001258395.2:c.285C>A, NM_001258395.1:c.285C>A, NP_001245327.1:p.Pro96Thr, NP_001245328.1:p.Pro97Thr

Select item 140167807714.

rs1401678077 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:44901606 (GRCh38)
17:42978974 (GRCh37)
Canonical SPDI:: NC_000017.11:44901605:C:A
Gene:: CCDC103 (Varview), FAM187A (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.44901606C>A, NC_000017.10:g.42978974C>A, NG_032674.1:g.3020G>T, NG_032792.1:g.6895C>A, NM_001258397.3:c.230C>A, NM_001258397.2:c.230C>A, NM_001258397.1:c.230C>A, NM_213607.3:c.230C>A, NM_213607.2:c.230C>A, NM_001258398.3:c.230C>A, NM_001258398.2:c.230C>A, NM_001258398.1:c.230C>A, NM_001258399.2:c.230C>A, NM_001258399.1:c.230C>A, NM_001258396.2:c.230C>A, NM_001258396.1:c.230C>A, NM_001258395.2:c.230C>A, NM_001258395.1:c.230C>A, NP_001245326.1:p.Thr77Asn, NP_998772.1:p.Thr77Asn, NP_001245327.1:p.Thr77Asn, NP_001245328.1:p.Thr77Asn, NP_001245325.1:p.Thr77Asn, NP_001245324.1:p.Thr77Asn

Select item 140012303115.

rs1400123031 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:44901028 (GRCh38)
17:42978396 (GRCh37)
Canonical SPDI:: NC_000017.11:44901027:G:A
Gene:: EFTUD2 (Varview), CCDC103 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,synonymous_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_000017.11:g.44901028G>A, NC_000017.10:g.42978396G>A, NG_032674.1:g.3598C>T, NG_032792.1:g.6317G>A, NM_001258397.3:c.30G>A, NM_001258397.2:c.30G>A, NM_001258397.1:c.30G>A, NM_213607.3:c.30G>A, NM_213607.2:c.30G>A, NM_001258398.3:c.30G>A, NM_001258398.2:c.30G>A, NM_001258398.1:c.30G>A, NM_001258399.2:c.30G>A, NM_001258399.1:c.30G>A, NM_001258396.2:c.30G>A, NM_001258396.1:c.30G>A, NM_001258395.2:c.30G>A, NM_001258395.1:c.30G>A

Select item 139435584816.

rs1394355848 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:44901608 (GRCh38)
17:42978976 (GRCh37)
Canonical SPDI:: NC_000017.11:44901607:A:G
Gene:: CCDC103 (Varview), FAM187A (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.44901608A>G, NC_000017.10:g.42978976A>G, NG_032674.1:g.3018T>C, NG_032792.1:g.6897A>G, NM_001258397.3:c.232A>G, NM_001258397.2:c.232A>G, NM_001258397.1:c.232A>G, NM_213607.3:c.232A>G, NM_213607.2:c.232A>G, NM_001258398.3:c.232A>G, NM_001258398.2:c.232A>G, NM_001258398.1:c.232A>G, NM_001258399.2:c.232A>G, NM_001258399.1:c.232A>G, NM_001258396.2:c.232A>G, NM_001258396.1:c.232A>G, NM_001258395.2:c.232A>G, NM_001258395.1:c.232A>G, NP_001245326.1:p.Ile78Val, NP_998772.1:p.Ile78Val, NP_001245327.1:p.Ile78Val, NP_001245328.1:p.Ile78Val, NP_001245325.1:p.Ile78Val, NP_001245324.1:p.Ile78Val

Select item 138866375317.

rs1388663753 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:44901589 (GRCh38)
17:42978957 (GRCh37)
Canonical SPDI:: NC_000017.11:44901588:G:C
Gene:: CCDC103 (Varview), FAM187A (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.44901589G>C, NC_000017.10:g.42978957G>C, NG_032674.1:g.3037C>G, NG_032792.1:g.6878G>C, NM_001258397.3:c.213G>C, NM_001258397.2:c.213G>C, NM_001258397.1:c.213G>C, NM_213607.3:c.213G>C, NM_213607.2:c.213G>C, NM_001258398.3:c.213G>C, NM_001258398.2:c.213G>C, NM_001258398.1:c.213G>C, NM_001258399.2:c.213G>C, NM_001258399.1:c.213G>C, NM_001258396.2:c.213G>C, NM_001258396.1:c.213G>C, NM_001258395.2:c.213G>C, NM_001258395.1:c.213G>C

Select item 138824487718.

rs1388244877 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:44902374 (GRCh38)
17:42979742 (GRCh37)
Canonical SPDI:: NC_000017.11:44902373:C:T
Gene:: CCDC103 (Varview), FAM187A (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.44902374C>T, NC_000017.10:g.42979742C>T, NG_032674.1:g.2252G>A, NG_032792.1:g.7663C>T, NM_001258397.3:c.*36C>T, NM_001258397.2:c.*36C>T, NM_001258397.1:c.*36C>T, NM_213607.3:c.286C>T, NM_213607.2:c.286C>T, NM_001258398.3:c.287C>T, NM_001258398.2:c.287C>T, NM_001258398.1:c.287C>T, NM_001258399.2:c.290C>T, NM_001258399.1:c.290C>T, NM_001258396.2:c.286C>T, NM_001258396.1:c.286C>T, NM_001258395.2:c.286C>T, NM_001258395.1:c.286C>T, NP_998772.1:p.Pro96Ser, NP_001245327.1:p.Pro96Leu, NP_001245328.1:p.Pro97Leu, NP_001245325.1:p.Pro96Ser, NP_001245324.1:p.Pro96Ser

Select item 136621091019.

rs1366210910 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:44901625 (GRCh38)
17:42978993 (GRCh37)
Canonical SPDI:: NC_000017.11:44901624:C:T
Gene:: CCDC103 (Varview), FAM187A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.44901625C>T, NC_000017.10:g.42978993C>T, NG_032674.1:g.3001G>A, NG_032792.1:g.6914C>T, NM_001258397.3:c.249C>T, NM_001258397.2:c.249C>T, NM_001258397.1:c.249C>T, NM_213607.3:c.249C>T, NM_213607.2:c.249C>T, NM_001258398.3:c.249C>T, NM_001258398.2:c.249C>T, NM_001258398.1:c.249C>T, NM_001258399.2:c.249C>T, NM_001258399.1:c.249C>T, NM_001258396.2:c.249C>T, NM_001258396.1:c.249C>T, NM_001258395.2:c.249C>T, NM_001258395.1:c.249C>T

Select item 135723139620.

rs1357231396 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:44901559 (GRCh38)
17:42978927 (GRCh37)
Canonical SPDI:: NC_000017.11:44901558:G:C
Gene:: CCDC103 (Varview), FAM187A (Varview)
Functional Consequence:: upstream_transcript_variant,synonymous_variant,coding_sequence_variant,2KB_upstream_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_000017.11:g.44901559G>C, NC_000017.10:g.42978927G>C, NG_032674.1:g.3067C>G, NG_032792.1:g.6848G>C, NM_001258397.3:c.183G>C, NM_001258397.2:c.183G>C, NM_001258397.1:c.183G>C, NM_213607.3:c.183G>C, NM_213607.2:c.183G>C, NM_001258398.3:c.183G>C, NM_001258398.2:c.183G>C, NM_001258398.1:c.183G>C, NM_001258399.2:c.183G>C, NM_001258399.1:c.183G>C, NM_001258396.2:c.183G>C, NM_001258396.1:c.183G>C, NM_001258395.2:c.183G>C, NM_001258395.1:c.183G>C

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