SNP Links for Protein (Select 323098332) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 264

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Select item 14775205861.

rs1477520586 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:46668725 (GRCh38)
6:46636462 (GRCh37)
Canonical SPDI:: NC_000006.12:46668724:T:C
Gene:: SLC25A27 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000006.12:g.46668725T>C, NC_000006.11:g.46636462T>C, NM_004277.5:c.636T>C, NM_004277.4:c.636T>C, XM_005249483.3:c.636T>C, XM_005249483.2:c.636T>C, XM_005249483.1:c.636T>C, NM_001204051.2:c.636T>C, NM_001204051.1:c.636T>C, NM_001204052.2:c.636T>C, NM_001204052.1:c.636T>C, XM_047419575.1:c.321T>C, XR_007059387.1:n.854T>C, XR_007059389.1:n.798T>C, XR_007059388.1:n.854T>C

Select item 14726615752.

rs1472661575 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:46670160 (GRCh38)
6:46637897 (GRCh37)
Canonical SPDI:: NC_000006.12:46670159:A:C
Gene:: SLC25A27 (Varview), TDRD6-AS1 (Varview)
Functional Consequence:: missense_variant,downstream_transcript_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant,500B_downstream_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_000006.12:g.46670160A>C, NC_000006.11:g.46637897A>C, NM_004277.5:c.730A>C, NM_004277.4:c.730A>C, XM_005249483.3:c.730A>C, XM_005249483.2:c.730A>C, XM_005249483.1:c.730A>C, NM_001204051.2:c.730A>C, NM_001204051.1:c.730A>C, XM_047419575.1:c.415A>C, XR_007059387.1:n.948A>C, XR_007059389.1:n.892A>C, XR_007059388.1:n.948A>C, NP_004268.3:p.Ile244Leu, XP_005249540.1:p.Ile244Leu, NP_001190980.1:p.Ile244Leu, XP_047275531.1:p.Ile139Leu

Select item 14722277913.

rs1472227791 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:46668756 (GRCh38)
6:46636493 (GRCh37)
Canonical SPDI:: NC_000006.12:46668755:C:T
Gene:: SLC25A27 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.46668756C>T, NC_000006.11:g.46636493C>T, NM_004277.5:c.667C>T, NM_004277.4:c.667C>T, XM_005249483.3:c.667C>T, XM_005249483.2:c.667C>T, XM_005249483.1:c.667C>T, NM_001204051.2:c.667C>T, NM_001204051.1:c.667C>T, NM_001204052.2:c.667C>T, NM_001204052.1:c.667C>T, XM_047419575.1:c.352C>T, XR_007059387.1:n.885C>T, XR_007059389.1:n.829C>T, XR_007059388.1:n.885C>T, NP_004268.3:p.Pro223Ser, XP_005249540.1:p.Pro223Ser, NP_001190980.1:p.Pro223Ser, NP_001190981.1:p.Pro223Ser, XP_047275531.1:p.Pro118Ser

Select item 14615166444.

rs1461516644 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:46653292 (GRCh38)
6:46621029 (GRCh37)
Canonical SPDI:: NC_000006.12:46653291:G:A
Gene:: SLC25A27 (Varview), CYP39A1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000017/4 (GnomAD_exomes)
A=0.000071/1 (TOMMO)
HGVS:: NC_000006.12:g.46653292G>A, NC_000006.11:g.46621029G>A, NG_007962.1:g.4495C>T, NM_004277.5:c.100G>A, NM_004277.4:c.100G>A, XM_005249483.3:c.100G>A, XM_005249483.2:c.100G>A, XM_005249483.1:c.100G>A, NM_001204051.2:c.100G>A, NM_001204051.1:c.100G>A, NM_001204052.2:c.100G>A, NM_001204052.1:c.100G>A, XR_007059387.1:n.318G>A, XR_007059388.1:n.318G>A, NP_004268.3:p.Glu34Lys, XP_005249540.1:p.Glu34Lys, NP_001190980.1:p.Glu34Lys, NP_001190981.1:p.Glu34Lys

Select item 14588383005.

rs1458838300 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:46659039 (GRCh38)
6:46626776 (GRCh37)
Canonical SPDI:: NC_000006.12:46659038:C:T
Gene:: SLC25A27 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000684/2 (KOREAN)
HGVS:: NC_000006.12:g.46659039C>T, NC_000006.11:g.46626776C>T, NM_004277.5:c.376C>T, NM_004277.4:c.376C>T, XM_005249483.3:c.376C>T, XM_005249483.2:c.376C>T, XM_005249483.1:c.376C>T, NM_001204051.2:c.376C>T, NM_001204051.1:c.376C>T, NM_001204052.2:c.376C>T, NM_001204052.1:c.376C>T, XM_047419575.1:c.61C>T, XR_007059387.1:n.594C>T, XR_007059389.1:n.538C>T, XR_007059388.1:n.594C>T, NP_004268.3:p.Pro126Ser, XP_005249540.1:p.Pro126Ser, NP_001190980.1:p.Pro126Ser, NP_001190981.1:p.Pro126Ser, XP_047275531.1:p.Pro21Ser

Select item 14560238346.

rs1456023834 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:46658981 (GRCh38)
6:46626718 (GRCh37)
Canonical SPDI:: NC_000006.12:46658980:G:A
Gene:: SLC25A27 (Varview)
Functional Consequence:: initiator_codon_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000006.12:g.46658981G>A, NC_000006.11:g.46626718G>A, NM_004277.5:c.318G>A, NM_004277.4:c.318G>A, XM_005249483.3:c.318G>A, XM_005249483.2:c.318G>A, XM_005249483.1:c.318G>A, NM_001204051.2:c.318G>A, NM_001204051.1:c.318G>A, NM_001204052.2:c.318G>A, NM_001204052.1:c.318G>A, XM_047419575.1:c.3G>A, XR_007059387.1:n.536G>A, XR_007059389.1:n.480G>A, XR_007059388.1:n.536G>A, NP_004268.3:p.Met106Ile, XP_005249540.1:p.Met106Ile, NP_001190980.1:p.Met106Ile, NP_001190981.1:p.Met106Ile, XP_047275531.1:p.Met1Ile

Select item 14530122467.

rs1453012246 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:46653265 (GRCh38)
6:46621002 (GRCh37)
Canonical SPDI:: NC_000006.12:46653264:C:T
Gene:: SLC25A27 (Varview), CYP39A1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.46653265C>T, NC_000006.11:g.46621002C>T, NG_007962.1:g.4522G>A, NM_004277.5:c.73C>T, NM_004277.4:c.73C>T, XM_005249483.3:c.73C>T, XM_005249483.2:c.73C>T, XM_005249483.1:c.73C>T, NM_001204051.2:c.73C>T, NM_001204051.1:c.73C>T, NM_001204052.2:c.73C>T, NM_001204052.1:c.73C>T, XR_007059387.1:n.291C>T, XR_007059388.1:n.291C>T

Select item 14480665928.

rs1448066592 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGCAGAATAATGAATCAACCACGAGATAAACAAGGAAGGTAGATAAAAA [Show Flanks]
Chromosome:: 6:46670186 (GRCh38)
6:46637924 (GRCh37)
Canonical SPDI:: NC_000006.12:46670186:AAAAGCAGAATAATGAATCAACCACGAGATAAACAAGGAAGGTAGATAAAAA:AAAAGCAGAATAATGAATCAACCACGAGATAAACAAGGAAGGTAGATAAAAAAGCAGAATAATGAATCAACCACGAGATAAACAAGGAAGGTAGATAAAAA
Gene:: SLC25A27 (Varview), TDRD6-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant,splice_donor_variant
Validated:: by frequency,by alfa
MAF:: AAAAGCAGAATAATGAATCAACCACGAGATAAACAAGGAAGGTAGATAAAAAAGCAGAATAATGAATCAACCACGAGATAAACAAGGAAGGTAGATAAAAA=0.000111/1 (ALFA)
AAAAGCAGAATAATGAATCAACCACGAGATAAACAAGGAAGGTAGATAA=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.46670190_46670238dup, NC_000006.11:g.46637927_46637975dup

Select item 14394889999.

rs1439488999 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:46659004 (GRCh38)
6:46626741 (GRCh37)
Canonical SPDI:: NC_000006.12:46659003:A:G
Gene:: SLC25A27 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.46659004A>G, NC_000006.11:g.46626741A>G, NM_004277.5:c.341A>G, NM_004277.4:c.341A>G, XM_005249483.3:c.341A>G, XM_005249483.2:c.341A>G, XM_005249483.1:c.341A>G, NM_001204051.2:c.341A>G, NM_001204051.1:c.341A>G, NM_001204052.2:c.341A>G, NM_001204052.1:c.341A>G, XM_047419575.1:c.26A>G, XR_007059387.1:n.559A>G, XR_007059389.1:n.503A>G, XR_007059388.1:n.559A>G, NP_004268.3:p.Glu114Gly, XP_005249540.1:p.Glu114Gly, NP_001190980.1:p.Glu114Gly, NP_001190981.1:p.Glu114Gly, XP_047275531.1:p.Glu9Gly

Select item 143870265210.

rs1438702652 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 6:46653279 (GRCh38)
6:46621016 (GRCh37)
Canonical SPDI:: NC_000006.12:46653278:G:A,NC_000006.12:46653278:G:C,NC_000006.12:46653278:G:T
Gene:: SLC25A27 (Varview), CYP39A1 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.46653279G>A, NC_000006.12:g.46653279G>C, NC_000006.12:g.46653279G>T, NC_000006.11:g.46621016G>A, NC_000006.11:g.46621016G>C, NC_000006.11:g.46621016G>T, NG_007962.1:g.4508C>T, NG_007962.1:g.4508C>G, NG_007962.1:g.4508C>A, NM_004277.5:c.87G>A, NM_004277.5:c.87G>C, NM_004277.5:c.87G>T, NM_004277.4:c.87G>A, NM_004277.4:c.87G>C, NM_004277.4:c.87G>T, XM_005249483.3:c.87G>A, XM_005249483.3:c.87G>C, XM_005249483.3:c.87G>T, XM_005249483.2:c.87G>A, XM_005249483.2:c.87G>C, XM_005249483.2:c.87G>T, XM_005249483.1:c.87G>A, XM_005249483.1:c.87G>C, XM_005249483.1:c.87G>T, NM_001204051.2:c.87G>A, NM_001204051.2:c.87G>C, NM_001204051.2:c.87G>T, NM_001204051.1:c.87G>A, NM_001204051.1:c.87G>C, NM_001204051.1:c.87G>T, NM_001204052.2:c.87G>A, NM_001204052.2:c.87G>C, NM_001204052.2:c.87G>T, NM_001204052.1:c.87G>A, NM_001204052.1:c.87G>C, NM_001204052.1:c.87G>T, XR_007059387.1:n.305G>A, XR_007059387.1:n.305G>C, XR_007059387.1:n.305G>T, XR_007059388.1:n.305G>A, XR_007059388.1:n.305G>C, XR_007059388.1:n.305G>T

Select item 143436252611.

rs1434362526 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:46664855 (GRCh38)
6:46632592 (GRCh37)
Canonical SPDI:: NC_000006.12:46664854:T:C
Gene:: SLC25A27 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.46664855T>C, NC_000006.11:g.46632592T>C, NM_004277.5:c.588T>C, NM_004277.4:c.588T>C, XM_005249483.3:c.588T>C, XM_005249483.2:c.588T>C, XM_005249483.1:c.588T>C, NM_001204051.2:c.588T>C, NM_001204051.1:c.588T>C, NM_001204052.2:c.588T>C, NM_001204052.1:c.588T>C, XM_047419575.1:c.273T>C, XR_007059387.1:n.806T>C, XR_007059389.1:n.750T>C, XR_007059388.1:n.806T>C

Select item 143318619912.

rs1433186199 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:46671208 (GRCh38)
6:46638945 (GRCh37)
Canonical SPDI:: NC_000006.12:46671207:T:A
Gene:: SLC25A27 (Varview), TDRD6-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000006.12:g.46671208T>A, NC_000006.11:g.46638945T>A, NM_004277.5:c.880T>A, NM_004277.4:c.880T>A, XM_005249483.3:c.880T>A, XM_005249483.2:c.880T>A, XM_005249483.1:c.880T>A, NM_001204051.2:c.880T>A, NM_001204051.1:c.880T>A, XM_047419575.1:c.565T>A, XR_007059387.1:n.1098T>A, XR_007059389.1:n.1042T>A, XR_007059388.1:n.1098T>A, NP_004268.3:p.Leu294Ile, XP_005249540.1:p.Leu294Ile, NP_001190980.1:p.Leu294Ile, XP_047275531.1:p.Leu189Ile

Select item 142550773313.

rs1425507733 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:46655986 (GRCh38)
6:46623723 (GRCh37)
Canonical SPDI:: NC_000006.12:46655985:T:C
Gene:: SLC25A27 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.46655986T>C, NC_000006.11:g.46623723T>C, NG_007962.1:g.1801A>G, NM_004277.5:c.250T>C, NM_004277.4:c.250T>C, XM_005249483.3:c.250T>C, XM_005249483.2:c.250T>C, XM_005249483.1:c.250T>C, NM_001204051.2:c.250T>C, NM_001204051.1:c.250T>C, NM_001204052.2:c.250T>C, NM_001204052.1:c.250T>C, XM_047419575.1:c.-62T>C, XR_007059387.1:n.468T>C, XR_007059389.1:n.412T>C, XR_007059388.1:n.468T>C, NP_004268.3:p.Phe84Leu, XP_005249540.1:p.Phe84Leu, NP_001190980.1:p.Phe84Leu, NP_001190981.1:p.Phe84Leu

Select item 142497075414.

rs1424970754 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:46664832 (GRCh38)
6:46632569 (GRCh37)
Canonical SPDI:: NC_000006.12:46664831:C:T
Gene:: SLC25A27 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.46664832C>T, NC_000006.11:g.46632569C>T, NM_004277.5:c.565C>T, NM_004277.4:c.565C>T, XM_005249483.3:c.565C>T, XM_005249483.2:c.565C>T, XM_005249483.1:c.565C>T, NM_001204051.2:c.565C>T, NM_001204051.1:c.565C>T, NM_001204052.2:c.565C>T, NM_001204052.1:c.565C>T, XM_047419575.1:c.250C>T, XR_007059387.1:n.783C>T, XR_007059389.1:n.727C>T, XR_007059388.1:n.783C>T, NP_004268.3:p.Leu189Phe, XP_005249540.1:p.Leu189Phe, NP_001190980.1:p.Leu189Phe, NP_001190981.1:p.Leu189Phe, XP_047275531.1:p.Leu84Phe

Select item 142266573515.

rs1422665735 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:46655917 (GRCh38)
6:46623654 (GRCh37)
Canonical SPDI:: NC_000006.12:46655916:G:A
Gene:: SLC25A27 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.46655917G>A, NC_000006.11:g.46623654G>A, NG_007962.1:g.1870C>T, NM_004277.5:c.181G>A, NM_004277.4:c.181G>A, XM_005249483.3:c.181G>A, XM_005249483.2:c.181G>A, XM_005249483.1:c.181G>A, NM_001204051.2:c.181G>A, NM_001204051.1:c.181G>A, NM_001204052.2:c.181G>A, NM_001204052.1:c.181G>A, XR_007059387.1:n.399G>A, XR_007059389.1:n.343G>A, XR_007059388.1:n.399G>A, NP_004268.3:p.Gly61Ser, XP_005249540.1:p.Gly61Ser, NP_001190980.1:p.Gly61Ser, NP_001190981.1:p.Gly61Ser

Select item 142033783916.

rs1420337839 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:46668749 (GRCh38)
6:46636486 (GRCh37)
Canonical SPDI:: NC_000006.12:46668748:G:C
Gene:: SLC25A27 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000006.12:g.46668749G>C, NC_000006.11:g.46636486G>C, NM_004277.5:c.660G>C, NM_004277.4:c.660G>C, XM_005249483.3:c.660G>C, XM_005249483.2:c.660G>C, XM_005249483.1:c.660G>C, NM_001204051.2:c.660G>C, NM_001204051.1:c.660G>C, NM_001204052.2:c.660G>C, NM_001204052.1:c.660G>C, XM_047419575.1:c.345G>C, XR_007059387.1:n.878G>C, XR_007059389.1:n.822G>C, XR_007059388.1:n.878G>C, NP_004268.3:p.Leu220Phe, XP_005249540.1:p.Leu220Phe, NP_001190980.1:p.Leu220Phe, NP_001190981.1:p.Leu220Phe, XP_047275531.1:p.Leu115Phe

Select item 141851681917.

rs1418516819 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:46671158 (GRCh38)
6:46638895 (GRCh37)
Canonical SPDI:: NC_000006.12:46671157:T:C
Gene:: SLC25A27 (Varview), TDRD6-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.46671158T>C, NC_000006.11:g.46638895T>C, NM_004277.5:c.830T>C, NM_004277.4:c.830T>C, XM_005249483.3:c.830T>C, XM_005249483.2:c.830T>C, XM_005249483.1:c.830T>C, NM_001204051.2:c.830T>C, NM_001204051.1:c.830T>C, XM_047419575.1:c.515T>C, XR_007059387.1:n.1048T>C, XR_007059389.1:n.992T>C, XR_007059388.1:n.1048T>C, NP_004268.3:p.Leu277Ser, XP_005249540.1:p.Leu277Ser, NP_001190980.1:p.Leu277Ser, XP_047275531.1:p.Leu172Ser

Select item 140935071418.

rs1409350714 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:46655994 (GRCh38)
6:46623731 (GRCh37)
Canonical SPDI:: NC_000006.12:46655993:G:A
Gene:: SLC25A27 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,5_prime_UTR_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_000006.12:g.46655994G>A, NC_000006.11:g.46623731G>A, NG_007962.1:g.1793C>T, NM_004277.5:c.258G>A, NM_004277.4:c.258G>A, XM_005249483.3:c.258G>A, XM_005249483.2:c.258G>A, XM_005249483.1:c.258G>A, NM_001204051.2:c.258G>A, NM_001204051.1:c.258G>A, NM_001204052.2:c.258G>A, NM_001204052.1:c.258G>A, XM_047419575.1:c.-54G>A, XR_007059387.1:n.476G>A, XR_007059389.1:n.420G>A, XR_007059388.1:n.476G>A

Select item 140345332719.

rs1403453327 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:46656011 (GRCh38)
6:46623748 (GRCh37)
Canonical SPDI:: NC_000006.12:46656010:C:G,NC_000006.12:46656010:C:T
Gene:: SLC25A27 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.46656011C>G, NC_000006.12:g.46656011C>T, NC_000006.11:g.46623748C>G, NC_000006.11:g.46623748C>T, NG_007962.1:g.1776G>C, NG_007962.1:g.1776G>A, NM_004277.5:c.275C>G, NM_004277.5:c.275C>T, NM_004277.4:c.275C>G, NM_004277.4:c.275C>T, XM_005249483.3:c.275C>G, XM_005249483.3:c.275C>T, XM_005249483.2:c.275C>G, XM_005249483.2:c.275C>T, XM_005249483.1:c.275C>G, XM_005249483.1:c.275C>T, NM_001204051.2:c.275C>G, NM_001204051.2:c.275C>T, NM_001204051.1:c.275C>G, NM_001204051.1:c.275C>T, NM_001204052.2:c.275C>G, NM_001204052.2:c.275C>T, NM_001204052.1:c.275C>G, NM_001204052.1:c.275C>T, XM_047419575.1:c.-37C>G, XM_047419575.1:c.-37C>T, XR_007059387.1:n.493C>G, XR_007059387.1:n.493C>T, XR_007059389.1:n.437C>G, XR_007059389.1:n.437C>T, XR_007059388.1:n.493C>G, XR_007059388.1:n.493C>T, NP_004268.3:p.Thr92Arg, NP_004268.3:p.Thr92Ile, XP_005249540.1:p.Thr92Arg, XP_005249540.1:p.Thr92Ile, NP_001190980.1:p.Thr92Arg, NP_001190980.1:p.Thr92Ile, NP_001190981.1:p.Thr92Arg, NP_001190981.1:p.Thr92Ile

Select item 140270492820.

rs1402704928 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:46664863 (GRCh38)
6:46632600 (GRCh37)
Canonical SPDI:: NC_000006.12:46664862:G:C
Gene:: SLC25A27 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.46664863G>C, NC_000006.11:g.46632600G>C, NM_004277.5:c.596G>C, NM_004277.4:c.596G>C, XM_005249483.3:c.596G>C, XM_005249483.2:c.596G>C, XM_005249483.1:c.596G>C, NM_001204051.2:c.596G>C, NM_001204051.1:c.596G>C, NM_001204052.2:c.596G>C, NM_001204052.1:c.596G>C, XM_047419575.1:c.281G>C, XR_007059387.1:n.814G>C, XR_007059389.1:n.758G>C, XR_007059388.1:n.814G>C, NP_004268.3:p.Arg199Thr, XP_005249540.1:p.Arg199Thr, NP_001190980.1:p.Arg199Thr, NP_001190981.1:p.Arg199Thr, XP_047275531.1:p.Arg94Thr

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