SNP Links for Protein (Select 1034643743) - SNP

Links from Protein

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Select item 14904957921.

rs1490495792 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:135880790 (GRCh38)
5:135216479 (GRCh37)
Canonical SPDI:: NC_000005.10:135880789:C:T
Gene:: SLC25A48 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,3_prime_UTR_variant,downstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
T=0.00006/1 (TOMMO)
HGVS:: NC_000005.10:g.135880790C>T, NC_000005.9:g.135216479C>T, NM_001349345.2:c.407C>T, NM_001349345.1:c.407C>T, NR_146141.2:n.1146C>T, NR_146141.1:n.1133C>T, XM_006714544.2:c.827C>T, XM_006714544.1:c.827C>T, XM_011543196.2:c.*166C>T, XM_017009091.2:c.569C>T, XM_017009091.1:c.569C>T, NP_001336274.1:p.Ser136Phe, XP_006714607.1:p.Ser276Phe, XP_016864580.1:p.Ser190Phe

Select item 14815444232.

rs1481544423 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:135852693 (GRCh38)
5:135188382 (GRCh37)
Canonical SPDI:: NC_000005.10:135852692:G:A
Gene:: SLC25A48 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.135852693G>A, NC_000005.9:g.135188382G>A, NM_145282.5:c.293G>A, NM_145282.4:c.293G>A, XM_006714552.3:c.293G>A, XM_006714552.2:c.293G>A, XM_006714552.1:c.293G>A, NM_001349335.2:c.131G>A, NM_001349335.1:c.131G>A, NM_001349345.2:c.131G>A, NM_001349345.1:c.131G>A, NM_001349336.2:c.293G>A, NM_001349336.1:c.293G>A, NR_146141.2:n.478G>A, NR_146141.1:n.465G>A, XM_006714550.2:c.293G>A, XM_006714550.1:c.293G>A, XM_011543199.2:c.293G>A, XM_011543199.1:c.293G>A, XM_006714544.2:c.293G>A, XM_006714544.1:c.293G>A, XM_005271903.2:c.293G>A, XM_005271903.1:c.293G>A, XM_017009088.2:c.293G>A, XM_017009088.1:c.293G>A, XM_011543196.2:c.293G>A, XM_011543196.1:c.293G>A, XM_017009087.2:c.293G>A, XM_017009087.1:c.293G>A, XM_017009091.2:c.293G>A, XM_017009091.1:c.293G>A, XM_017009089.2:c.293G>A, XM_017009089.1:c.293G>A, XM_047416804.1:c.293G>A, XM_047416805.1:c.131G>A, XM_047416806.1:c.293G>A, XM_047416807.1:c.293G>A, NP_660325.4:p.Ser98Asn, XP_006714615.1:p.Ser98Asn, NP_001336264.1:p.Ser44Asn, NP_001336274.1:p.Ser44Asn, NP_001336265.1:p.Ser98Asn, XP_006714613.1:p.Ser98Asn, XP_011541501.1:p.Ser98Asn, XP_006714607.1:p.Ser98Asn, XP_005271960.1:p.Ser98Asn, XP_016864577.1:p.Ser98Asn, XP_011541498.1:p.Ser98Asn, XP_016864576.1:p.Ser98Asn, XP_016864580.1:p.Ser98Asn, XP_016864578.1:p.Ser98Asn, XP_047272760.1:p.Ser98Asn, XP_047272761.1:p.Ser44Asn, XP_047272762.1:p.Ser98Asn, XP_047272763.1:p.Ser98Asn

Select item 14809324943.

rs1480932494 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:135880036 (GRCh38)
5:135215725 (GRCh37)
Canonical SPDI:: NC_000005.10:135880035:G:T
Gene:: SLC25A48 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000043/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000007/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.135880036G>T, NC_000005.9:g.135215725G>T, NM_001349335.2:c.720G>T, NM_001349335.1:c.720G>T, NM_001349345.2:c.328G>T, NM_001349345.1:c.328G>T, NM_001349336.2:c.882G>T, NM_001349336.1:c.882G>T, NR_146141.2:n.1067G>T, NR_146141.1:n.1054G>T, XM_011543199.2:c.748G>T, XM_011543199.1:c.748G>T, XM_006714544.2:c.748G>T, XM_006714544.1:c.748G>T, XM_005271903.2:c.748G>T, XM_005271903.1:c.748G>T, XM_017009088.2:c.882G>T, XM_017009088.1:c.882G>T, XM_011543196.2:c.748G>T, XM_011543196.1:c.748G>T, XM_017009087.2:c.882G>T, XM_017009087.1:c.882G>T, XM_017009091.2:c.490G>T, XM_017009091.1:c.490G>T, XM_017009089.2:c.748G>T, XM_017009089.1:c.748G>T, XM_047416806.1:c.490G>T, XM_047416807.1:c.490G>T, NP_001336274.1:p.Val110Leu, XP_011541501.1:p.Val250Leu, XP_006714607.1:p.Val250Leu, XP_005271960.1:p.Val250Leu, XP_011541498.1:p.Val250Leu, XP_016864580.1:p.Val164Leu, XP_016864578.1:p.Val250Leu, XP_047272762.1:p.Val164Leu, XP_047272763.1:p.Val164Leu

Select item 14757791404.

rs1475779140 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:135852632 (GRCh38)
5:135188321 (GRCh37)
Canonical SPDI:: NC_000005.10:135852631:G:C
Gene:: SLC25A48 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.135852632G>C, NC_000005.9:g.135188321G>C, NM_145282.5:c.232G>C, NM_145282.4:c.232G>C, XM_006714552.3:c.232G>C, XM_006714552.2:c.232G>C, XM_006714552.1:c.232G>C, NM_001349335.2:c.70G>C, NM_001349335.1:c.70G>C, NM_001349345.2:c.70G>C, NM_001349345.1:c.70G>C, NM_001349336.2:c.232G>C, NM_001349336.1:c.232G>C, NR_146141.2:n.417G>C, NR_146141.1:n.404G>C, XM_006714550.2:c.232G>C, XM_006714550.1:c.232G>C, XM_011543199.2:c.232G>C, XM_011543199.1:c.232G>C, XM_006714544.2:c.232G>C, XM_006714544.1:c.232G>C, XM_005271903.2:c.232G>C, XM_005271903.1:c.232G>C, XM_017009088.2:c.232G>C, XM_017009088.1:c.232G>C, XM_011543196.2:c.232G>C, XM_011543196.1:c.232G>C, XM_017009087.2:c.232G>C, XM_017009087.1:c.232G>C, XM_017009091.2:c.232G>C, XM_017009091.1:c.232G>C, XM_017009089.2:c.232G>C, XM_017009089.1:c.232G>C, XM_047416804.1:c.232G>C, XM_047416805.1:c.70G>C, XM_047416806.1:c.232G>C, XM_047416807.1:c.232G>C, NP_660325.4:p.Gly78Arg, XP_006714615.1:p.Gly78Arg, NP_001336264.1:p.Gly24Arg, NP_001336274.1:p.Gly24Arg, NP_001336265.1:p.Gly78Arg, XP_006714613.1:p.Gly78Arg, XP_011541501.1:p.Gly78Arg, XP_006714607.1:p.Gly78Arg, XP_005271960.1:p.Gly78Arg, XP_016864577.1:p.Gly78Arg, XP_011541498.1:p.Gly78Arg, XP_016864576.1:p.Gly78Arg, XP_016864580.1:p.Gly78Arg, XP_016864578.1:p.Gly78Arg, XP_047272760.1:p.Gly78Arg, XP_047272761.1:p.Gly24Arg, XP_047272762.1:p.Gly78Arg, XP_047272763.1:p.Gly78Arg

Select item 14750105945.

rs1475010594 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:135880826 (GRCh38)
5:135216515 (GRCh37)
Canonical SPDI:: NC_000005.10:135880825:A:G
Gene:: SLC25A48 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant,non_coding_transcript_variant,downstream_transcript_variant,missense_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)
HGVS:: NC_000005.10:g.135880826A>G, NC_000005.9:g.135216515A>G, NM_001349345.2:c.443A>G, NM_001349345.1:c.443A>G, NR_146141.2:n.1182A>G, NR_146141.1:n.1169A>G, XM_006714544.2:c.863A>G, XM_006714544.1:c.863A>G, XM_011543196.2:c.*202A>G, XM_017009091.2:c.605A>G, XM_017009091.1:c.605A>G, NP_001336274.1:p.Tyr148Cys, XP_006714607.1:p.Tyr288Cys, XP_016864580.1:p.Tyr202Cys

Select item 14723891316.

rs1472389131 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:135880006 (GRCh38)
5:135215695 (GRCh37)
Canonical SPDI:: NC_000005.10:135880005:C:T
Gene:: SLC25A48 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant,synonymous_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_000005.10:g.135880006C>T, NC_000005.9:g.135215695C>T, NM_001349335.2:c.690C>T, NM_001349335.1:c.690C>T, NM_001349345.2:c.298C>T, NM_001349345.1:c.298C>T, NM_001349336.2:c.852C>T, NM_001349336.1:c.852C>T, NR_146141.2:n.1037C>T, NR_146141.1:n.1024C>T, XM_011543199.2:c.718C>T, XM_011543199.1:c.718C>T, XM_006714544.2:c.718C>T, XM_006714544.1:c.718C>T, XM_005271903.2:c.718C>T, XM_005271903.1:c.718C>T, XM_017009088.2:c.852C>T, XM_017009088.1:c.852C>T, XM_011543196.2:c.718C>T, XM_011543196.1:c.718C>T, XM_017009087.2:c.852C>T, XM_017009087.1:c.852C>T, XM_017009091.2:c.460C>T, XM_017009091.1:c.460C>T, XM_017009089.2:c.718C>T, XM_017009089.1:c.718C>T, XM_047416806.1:c.460C>T, XM_047416807.1:c.460C>T, NP_001336274.1:p.Leu100Phe, XP_011541501.1:p.Leu240Phe, XP_006714607.1:p.Leu240Phe, XP_005271960.1:p.Leu240Phe, XP_011541498.1:p.Leu240Phe, XP_016864580.1:p.Leu154Phe, XP_016864578.1:p.Leu240Phe, XP_047272762.1:p.Leu154Phe, XP_047272763.1:p.Leu154Phe

Select item 14689459117.

rs1468945911 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:135852669 (GRCh38)
5:135188358 (GRCh37)
Canonical SPDI:: NC_000005.10:135852668:A:C
Gene:: SLC25A48 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.135852669A>C, NC_000005.9:g.135188358A>C, NM_145282.5:c.269A>C, NM_145282.4:c.269A>C, XM_006714552.3:c.269A>C, XM_006714552.2:c.269A>C, XM_006714552.1:c.269A>C, NM_001349335.2:c.107A>C, NM_001349335.1:c.107A>C, NM_001349345.2:c.107A>C, NM_001349345.1:c.107A>C, NM_001349336.2:c.269A>C, NM_001349336.1:c.269A>C, NR_146141.2:n.454A>C, NR_146141.1:n.441A>C, XM_006714550.2:c.269A>C, XM_006714550.1:c.269A>C, XM_011543199.2:c.269A>C, XM_011543199.1:c.269A>C, XM_006714544.2:c.269A>C, XM_006714544.1:c.269A>C, XM_005271903.2:c.269A>C, XM_005271903.1:c.269A>C, XM_017009088.2:c.269A>C, XM_017009088.1:c.269A>C, XM_011543196.2:c.269A>C, XM_011543196.1:c.269A>C, XM_017009087.2:c.269A>C, XM_017009087.1:c.269A>C, XM_017009091.2:c.269A>C, XM_017009091.1:c.269A>C, XM_017009089.2:c.269A>C, XM_017009089.1:c.269A>C, XM_047416804.1:c.269A>C, XM_047416805.1:c.107A>C, XM_047416806.1:c.269A>C, XM_047416807.1:c.269A>C, NP_660325.4:p.His90Pro, XP_006714615.1:p.His90Pro, NP_001336264.1:p.His36Pro, NP_001336274.1:p.His36Pro, NP_001336265.1:p.His90Pro, XP_006714613.1:p.His90Pro, XP_011541501.1:p.His90Pro, XP_006714607.1:p.His90Pro, XP_005271960.1:p.His90Pro, XP_016864577.1:p.His90Pro, XP_011541498.1:p.His90Pro, XP_016864576.1:p.His90Pro, XP_016864580.1:p.His90Pro, XP_016864578.1:p.His90Pro, XP_047272760.1:p.His90Pro, XP_047272761.1:p.His36Pro, XP_047272762.1:p.His90Pro, XP_047272763.1:p.His90Pro

Select item 14651912278.

rs1465191227 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:135883071 (GRCh38)
5:135218760 (GRCh37)
Canonical SPDI:: NC_000005.10:135883070:C:G,NC_000005.10:135883070:C:T
Gene:: SLC25A48 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by cluster
HGVS:: NC_000005.10:g.135883071C>G, NC_000005.10:g.135883071C>T, NC_000005.9:g.135218760C>G, NC_000005.9:g.135218760C>T, XM_006714552.3:c.431C>G, XM_006714552.3:c.431C>T, XM_006714552.2:c.431C>G, XM_006714552.2:c.431C>T, XM_006714552.1:c.431C>G, XM_006714552.1:c.431C>T, NM_001349345.2:c.537C>G, NM_001349345.2:c.537C>T, NM_001349345.1:c.537C>G, NM_001349345.1:c.537C>T, NR_146141.2:n.1276C>G, NR_146141.2:n.1276C>T, NR_146141.1:n.1263C>G, NR_146141.1:n.1263C>T, XM_006714544.2:c.957C>G, XM_006714544.2:c.957C>T, XM_006714544.1:c.957C>G, XM_006714544.1:c.957C>T, XM_005271903.2:c.819C>G, XM_005271903.2:c.819C>T, XM_005271903.1:c.819C>G, XM_005271903.1:c.819C>T, XM_017009091.2:c.699C>G, XM_017009091.2:c.699C>T, XM_017009091.1:c.699C>G, XM_017009091.1:c.699C>T, XM_047416806.1:c.*195C>G, XM_047416806.1:c.*195C>T, XM_047416807.1:c.561C>G, XM_047416807.1:c.561C>T, XP_006714615.1:p.Pro144Arg, XP_006714615.1:p.Pro144Leu

Select item 14541346949.

rs1454134694 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:135880072 (GRCh38)
5:135215761 (GRCh37)
Canonical SPDI:: NC_000005.10:135880071:C:G,NC_000005.10:135880071:C:T
Gene:: SLC25A48 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
HGVS:: NC_000005.10:g.135880072C>G, NC_000005.10:g.135880072C>T, NC_000005.9:g.135215761C>G, NC_000005.9:g.135215761C>T, NM_001349335.2:c.756C>G, NM_001349335.2:c.756C>T, NM_001349335.1:c.756C>G, NM_001349335.1:c.756C>T, NM_001349345.2:c.364C>G, NM_001349345.2:c.364C>T, NM_001349345.1:c.364C>G, NM_001349345.1:c.364C>T, NM_001349336.2:c.918C>G, NM_001349336.2:c.918C>T, NM_001349336.1:c.918C>G, NM_001349336.1:c.918C>T, NR_146141.2:n.1103C>G, NR_146141.2:n.1103C>T, NR_146141.1:n.1090C>G, NR_146141.1:n.1090C>T, XM_011543199.2:c.784C>G, XM_011543199.2:c.784C>T, XM_011543199.1:c.784C>G, XM_011543199.1:c.784C>T, XM_006714544.2:c.784C>G, XM_006714544.2:c.784C>T, XM_006714544.1:c.784C>G, XM_006714544.1:c.784C>T, XM_005271903.2:c.784C>G, XM_005271903.2:c.784C>T, XM_005271903.1:c.784C>G, XM_005271903.1:c.784C>T, XM_017009088.2:c.918C>G, XM_017009088.2:c.918C>T, XM_017009088.1:c.918C>G, XM_017009088.1:c.918C>T, XM_011543196.2:c.784C>G, XM_011543196.2:c.784C>T, XM_011543196.1:c.784C>G, XM_011543196.1:c.784C>T, XM_017009087.2:c.918C>G, XM_017009087.2:c.918C>T, XM_017009087.1:c.918C>G, XM_017009087.1:c.918C>T, XM_017009091.2:c.526C>G, XM_017009091.2:c.526C>T, XM_017009091.1:c.526C>G, XM_017009091.1:c.526C>T, XM_017009089.2:c.784C>G, XM_017009089.2:c.784C>T, XM_017009089.1:c.784C>G, XM_017009089.1:c.784C>T, XM_047416806.1:c.526C>G, XM_047416806.1:c.526C>T, XM_047416807.1:c.526C>G, XM_047416807.1:c.526C>T, NP_001336264.1:p.His252Gln, NP_001336274.1:p.Arg122Gly, NP_001336274.1:p.Arg122Cys, NP_001336265.1:p.His306Gln, XP_011541501.1:p.Arg262Gly, XP_011541501.1:p.Arg262Cys, XP_006714607.1:p.Arg262Gly, XP_006714607.1:p.Arg262Cys, XP_005271960.1:p.Arg262Gly, XP_005271960.1:p.Arg262Cys, XP_016864577.1:p.His306Gln, XP_011541498.1:p.Arg262Gly, XP_011541498.1:p.Arg262Cys, XP_016864576.1:p.His306Gln, XP_016864580.1:p.Arg176Gly, XP_016864580.1:p.Arg176Cys, XP_016864578.1:p.Arg262Gly, XP_016864578.1:p.Arg262Cys, XP_047272762.1:p.Arg176Gly, XP_047272762.1:p.Arg176Cys, XP_047272763.1:p.Arg176Gly, XP_047272763.1:p.Arg176Cys

Select item 145104368010.

rs1451043680 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:135852596 (GRCh38)
5:135188285 (GRCh37)
Canonical SPDI:: NC_000005.10:135852595:C:T
Gene:: SLC25A48 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.135852596C>T, NC_000005.9:g.135188285C>T, NM_145282.5:c.196C>T, NM_145282.4:c.196C>T, XM_006714552.3:c.196C>T, XM_006714552.2:c.196C>T, XM_006714552.1:c.196C>T, NM_001349335.2:c.34C>T, NM_001349335.1:c.34C>T, NM_001349345.2:c.34C>T, NM_001349345.1:c.34C>T, NM_001349336.2:c.196C>T, NM_001349336.1:c.196C>T, NR_146141.2:n.381C>T, NR_146141.1:n.368C>T, XM_006714550.2:c.196C>T, XM_006714550.1:c.196C>T, XM_011543199.2:c.196C>T, XM_011543199.1:c.196C>T, XM_006714544.2:c.196C>T, XM_006714544.1:c.196C>T, XM_005271903.2:c.196C>T, XM_005271903.1:c.196C>T, XM_017009088.2:c.196C>T, XM_017009088.1:c.196C>T, XM_011543196.2:c.196C>T, XM_011543196.1:c.196C>T, XM_017009087.2:c.196C>T, XM_017009087.1:c.196C>T, XM_017009091.2:c.196C>T, XM_017009091.1:c.196C>T, XM_017009089.2:c.196C>T, XM_017009089.1:c.196C>T, XM_047416804.1:c.196C>T, XM_047416805.1:c.34C>T, XM_047416806.1:c.196C>T, XM_047416807.1:c.196C>T, NP_660325.4:p.Leu66Phe, XP_006714615.1:p.Leu66Phe, NP_001336264.1:p.Leu12Phe, NP_001336274.1:p.Leu12Phe, NP_001336265.1:p.Leu66Phe, XP_006714613.1:p.Leu66Phe, XP_011541501.1:p.Leu66Phe, XP_006714607.1:p.Leu66Phe, XP_005271960.1:p.Leu66Phe, XP_016864577.1:p.Leu66Phe, XP_011541498.1:p.Leu66Phe, XP_016864576.1:p.Leu66Phe, XP_016864580.1:p.Leu66Phe, XP_016864578.1:p.Leu66Phe, XP_047272760.1:p.Leu66Phe, XP_047272761.1:p.Leu12Phe, XP_047272762.1:p.Leu66Phe, XP_047272763.1:p.Leu66Phe

Select item 145090575211.

rs1450905752 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:135852799 (GRCh38)
5:135188488 (GRCh37)
Canonical SPDI:: NC_000005.10:135852798:G:A
Gene:: SLC25A48 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.135852799G>A, NC_000005.9:g.135188488G>A, NM_145282.5:c.399G>A, NM_145282.4:c.399G>A, XM_006714552.3:c.399G>A, XM_006714552.2:c.399G>A, XM_006714552.1:c.399G>A, NM_001349335.2:c.237G>A, NM_001349335.1:c.237G>A, NM_001349345.2:c.237G>A, NM_001349345.1:c.237G>A, NM_001349336.2:c.399G>A, NM_001349336.1:c.399G>A, NR_146141.2:n.584G>A, NR_146141.1:n.571G>A, XM_006714550.2:c.399G>A, XM_006714550.1:c.399G>A, XM_011543199.2:c.399G>A, XM_011543199.1:c.399G>A, XM_006714544.2:c.399G>A, XM_006714544.1:c.399G>A, XM_005271903.2:c.399G>A, XM_005271903.1:c.399G>A, XM_017009088.2:c.399G>A, XM_017009088.1:c.399G>A, XM_011543196.2:c.399G>A, XM_011543196.1:c.399G>A, XM_017009087.2:c.399G>A, XM_017009087.1:c.399G>A, XM_017009091.2:c.399G>A, XM_017009091.1:c.399G>A, XM_017009089.2:c.399G>A, XM_017009089.1:c.399G>A, XM_047416804.1:c.399G>A, XM_047416805.1:c.237G>A, XM_047416806.1:c.399G>A, XM_047416807.1:c.399G>A, NP_660325.4:p.Met133Ile, XP_006714615.1:p.Met133Ile, NP_001336264.1:p.Met79Ile, NP_001336274.1:p.Met79Ile, NP_001336265.1:p.Met133Ile, XP_006714613.1:p.Met133Ile, XP_011541501.1:p.Met133Ile, XP_006714607.1:p.Met133Ile, XP_005271960.1:p.Met133Ile, XP_016864577.1:p.Met133Ile, XP_011541498.1:p.Met133Ile, XP_016864576.1:p.Met133Ile, XP_016864580.1:p.Met133Ile, XP_016864578.1:p.Met133Ile, XP_047272760.1:p.Met133Ile, XP_047272761.1:p.Met79Ile, XP_047272762.1:p.Met133Ile, XP_047272763.1:p.Met133Ile

Select item 145090381512.

rs1450903815 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:135834864 (GRCh38)
5:135170553 (GRCh37)
Canonical SPDI:: NC_000005.10:135834863:T:C
Gene:: SLC25A48 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.0003/1 (KOREAN)
C=0.0005/1 (Korea1K)
HGVS:: NC_000005.10:g.135834864T>C, NC_000005.9:g.135170553T>C, NM_145282.5:c.17T>C, NM_145282.4:c.17T>C, XM_006714552.3:c.17T>C, XM_006714552.2:c.17T>C, XM_006714552.1:c.17T>C, NM_001349336.2:c.17T>C, NM_001349336.1:c.17T>C, NR_146141.2:n.202T>C, NR_146141.1:n.189T>C, XM_006714550.2:c.17T>C, XM_006714550.1:c.17T>C, XM_011543199.2:c.17T>C, XM_011543199.1:c.17T>C, XM_006714544.2:c.17T>C, XM_006714544.1:c.17T>C, XM_005271903.2:c.17T>C, XM_005271903.1:c.17T>C, XM_017009088.2:c.17T>C, XM_017009088.1:c.17T>C, XM_011543196.2:c.17T>C, XM_011543196.1:c.17T>C, XM_017009087.2:c.17T>C, XM_017009087.1:c.17T>C, XM_017009091.2:c.17T>C, XM_017009091.1:c.17T>C, XM_017009089.2:c.17T>C, XM_017009089.1:c.17T>C, XM_047416804.1:c.17T>C, XM_047416806.1:c.17T>C, XM_047416807.1:c.17T>C, NP_660325.4:p.Leu6Pro, XP_006714615.1:p.Leu6Pro, NP_001336265.1:p.Leu6Pro, XP_006714613.1:p.Leu6Pro, XP_011541501.1:p.Leu6Pro, XP_006714607.1:p.Leu6Pro, XP_005271960.1:p.Leu6Pro, XP_016864577.1:p.Leu6Pro, XP_011541498.1:p.Leu6Pro, XP_016864576.1:p.Leu6Pro, XP_016864580.1:p.Leu6Pro, XP_016864578.1:p.Leu6Pro, XP_047272760.1:p.Leu6Pro, XP_047272762.1:p.Leu6Pro, XP_047272763.1:p.Leu6Pro

Select item 144811161413.

rs1448111614 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:135880005 (GRCh38)
5:135215694 (GRCh37)
Canonical SPDI:: NC_000005.10:135880004:G:T
Gene:: SLC25A48 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.135880005G>T, NC_000005.9:g.135215694G>T, NM_001349335.2:c.689G>T, NM_001349335.1:c.689G>T, NM_001349345.2:c.297G>T, NM_001349345.1:c.297G>T, NM_001349336.2:c.851G>T, NM_001349336.1:c.851G>T, NR_146141.2:n.1036G>T, NR_146141.1:n.1023G>T, XM_011543199.2:c.717G>T, XM_011543199.1:c.717G>T, XM_006714544.2:c.717G>T, XM_006714544.1:c.717G>T, XM_005271903.2:c.717G>T, XM_005271903.1:c.717G>T, XM_017009088.2:c.851G>T, XM_017009088.1:c.851G>T, XM_011543196.2:c.717G>T, XM_011543196.1:c.717G>T, XM_017009087.2:c.851G>T, XM_017009087.1:c.851G>T, XM_017009091.2:c.459G>T, XM_017009091.1:c.459G>T, XM_017009089.2:c.717G>T, XM_017009089.1:c.717G>T, XM_047416806.1:c.459G>T, XM_047416807.1:c.459G>T, NP_001336264.1:p.Gly230Val, NP_001336265.1:p.Gly284Val, XP_016864577.1:p.Gly284Val, XP_016864576.1:p.Gly284Val

Select item 144414284614.

rs1444142846 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:135852569 (GRCh38)
5:135188258 (GRCh37)
Canonical SPDI:: NC_000005.10:135852568:G:A,NC_000005.10:135852568:G:T
Gene:: SLC25A48 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.135852569G>A, NC_000005.10:g.135852569G>T, NC_000005.9:g.135188258G>A, NC_000005.9:g.135188258G>T, NM_145282.5:c.169G>A, NM_145282.5:c.169G>T, NM_145282.4:c.169G>A, NM_145282.4:c.169G>T, XM_006714552.3:c.169G>A, XM_006714552.3:c.169G>T, XM_006714552.2:c.169G>A, XM_006714552.2:c.169G>T, XM_006714552.1:c.169G>A, XM_006714552.1:c.169G>T, NM_001349335.2:c.7G>A, NM_001349335.2:c.7G>T, NM_001349335.1:c.7G>A, NM_001349335.1:c.7G>T, NM_001349345.2:c.7G>A, NM_001349345.2:c.7G>T, NM_001349345.1:c.7G>A, NM_001349345.1:c.7G>T, NM_001349336.2:c.169G>A, NM_001349336.2:c.169G>T, NM_001349336.1:c.169G>A, NM_001349336.1:c.169G>T, NR_146141.2:n.354G>A, NR_146141.2:n.354G>T, NR_146141.1:n.341G>A, NR_146141.1:n.341G>T, XM_006714550.2:c.169G>A, XM_006714550.2:c.169G>T, XM_006714550.1:c.169G>A, XM_006714550.1:c.169G>T, XM_011543199.2:c.169G>A, XM_011543199.2:c.169G>T, XM_011543199.1:c.169G>A, XM_011543199.1:c.169G>T, XM_006714544.2:c.169G>A, XM_006714544.2:c.169G>T, XM_006714544.1:c.169G>A, XM_006714544.1:c.169G>T, XM_005271903.2:c.169G>A, XM_005271903.2:c.169G>T, XM_005271903.1:c.169G>A, XM_005271903.1:c.169G>T, XM_017009088.2:c.169G>A, XM_017009088.2:c.169G>T, XM_017009088.1:c.169G>A, XM_017009088.1:c.169G>T, XM_011543196.2:c.169G>A, XM_011543196.2:c.169G>T, XM_011543196.1:c.169G>A, XM_011543196.1:c.169G>T, XM_017009087.2:c.169G>A, XM_017009087.2:c.169G>T, XM_017009087.1:c.169G>A, XM_017009087.1:c.169G>T, XM_017009091.2:c.169G>A, XM_017009091.2:c.169G>T, XM_017009091.1:c.169G>A, XM_017009091.1:c.169G>T, XM_017009089.2:c.169G>A, XM_017009089.2:c.169G>T, XM_017009089.1:c.169G>A, XM_017009089.1:c.169G>T, XM_047416804.1:c.169G>A, XM_047416804.1:c.169G>T, XM_047416805.1:c.7G>A, XM_047416805.1:c.7G>T, XM_047416806.1:c.169G>A, XM_047416806.1:c.169G>T, XM_047416807.1:c.169G>A, XM_047416807.1:c.169G>T, NP_660325.4:p.Gly57Ser, NP_660325.4:p.Gly57Cys, XP_006714615.1:p.Gly57Ser, XP_006714615.1:p.Gly57Cys, NP_001336264.1:p.Gly3Ser, NP_001336264.1:p.Gly3Cys, NP_001336274.1:p.Gly3Ser, NP_001336274.1:p.Gly3Cys, NP_001336265.1:p.Gly57Ser, NP_001336265.1:p.Gly57Cys, XP_006714613.1:p.Gly57Ser, XP_006714613.1:p.Gly57Cys, XP_011541501.1:p.Gly57Ser, XP_011541501.1:p.Gly57Cys, XP_006714607.1:p.Gly57Ser, XP_006714607.1:p.Gly57Cys, XP_005271960.1:p.Gly57Ser, XP_005271960.1:p.Gly57Cys, XP_016864577.1:p.Gly57Ser, XP_016864577.1:p.Gly57Cys, XP_011541498.1:p.Gly57Ser, XP_011541498.1:p.Gly57Cys, XP_016864576.1:p.Gly57Ser, XP_016864576.1:p.Gly57Cys, XP_016864580.1:p.Gly57Ser, XP_016864580.1:p.Gly57Cys, XP_016864578.1:p.Gly57Ser, XP_016864578.1:p.Gly57Cys, XP_047272760.1:p.Gly57Ser, XP_047272760.1:p.Gly57Cys, XP_047272761.1:p.Gly3Ser, XP_047272761.1:p.Gly3Cys, XP_047272762.1:p.Gly57Ser, XP_047272762.1:p.Gly57Cys, XP_047272763.1:p.Gly57Ser, XP_047272763.1:p.Gly57Cys

Select item 143984989815.

rs1439849898 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 5:135880856 (GRCh38)
5:135216545 (GRCh37)
Canonical SPDI:: NC_000005.10:135880855:A:C,NC_000005.10:135880855:A:T
Gene:: SLC25A48 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.135880856A>C, NC_000005.10:g.135880856A>T, NC_000005.9:g.135216545A>C, NC_000005.9:g.135216545A>T, NM_001349345.2:c.473A>C, NM_001349345.2:c.473A>T, NM_001349345.1:c.473A>C, NM_001349345.1:c.473A>T, NR_146141.2:n.1212A>C, NR_146141.2:n.1212A>T, NR_146141.1:n.1199A>C, NR_146141.1:n.1199A>T, XM_006714544.2:c.893A>C, XM_006714544.2:c.893A>T, XM_006714544.1:c.893A>C, XM_006714544.1:c.893A>T, XM_011543196.2:c.*232A>C, XM_011543196.2:c.*232A>T, XM_017009091.2:c.635A>C, XM_017009091.2:c.635A>T, XM_017009091.1:c.635A>C, XM_017009091.1:c.635A>T, NP_001336274.1:p.His158Pro, NP_001336274.1:p.His158Leu, XP_006714607.1:p.His298Pro, XP_006714607.1:p.His298Leu, XP_016864580.1:p.His212Pro, XP_016864580.1:p.His212Leu

Select item 143825501716.

rs1438255017 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:135880889 (GRCh38)
5:135216578 (GRCh37)
Canonical SPDI:: NC_000005.10:135880888:C:T
Gene:: SLC25A48 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.135880889C>T, NC_000005.9:g.135216578C>T, NM_001349345.2:c.506C>T, NM_001349345.1:c.506C>T, NR_146141.2:n.1245C>T, NR_146141.1:n.1232C>T, XM_006714544.2:c.926C>T, XM_006714544.1:c.926C>T, XM_011543196.2:c.*265C>T, XM_017009091.2:c.668C>T, XM_017009091.1:c.668C>T, NP_001336274.1:p.Ala169Val, XP_006714607.1:p.Ala309Val, XP_016864580.1:p.Ala223Val

Select item 143790187517.

rs1437901875 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:135880043 (GRCh38)
5:135215732 (GRCh37)
Canonical SPDI:: NC_000005.10:135880042:C:G
Gene:: SLC25A48 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.135880043C>G, NC_000005.9:g.135215732C>G, NM_001349335.2:c.727C>G, NM_001349335.1:c.727C>G, NM_001349345.2:c.335C>G, NM_001349345.1:c.335C>G, NM_001349336.2:c.889C>G, NM_001349336.1:c.889C>G, NR_146141.2:n.1074C>G, NR_146141.1:n.1061C>G, XM_011543199.2:c.755C>G, XM_011543199.1:c.755C>G, XM_006714544.2:c.755C>G, XM_006714544.1:c.755C>G, XM_005271903.2:c.755C>G, XM_005271903.1:c.755C>G, XM_017009088.2:c.889C>G, XM_017009088.1:c.889C>G, XM_011543196.2:c.755C>G, XM_011543196.1:c.755C>G, XM_017009087.2:c.889C>G, XM_017009087.1:c.889C>G, XM_017009091.2:c.497C>G, XM_017009091.1:c.497C>G, XM_017009089.2:c.755C>G, XM_017009089.1:c.755C>G, XM_047416806.1:c.497C>G, XM_047416807.1:c.497C>G, NP_001336264.1:p.Leu243Val, NP_001336274.1:p.Ala112Gly, NP_001336265.1:p.Leu297Val, XP_011541501.1:p.Ala252Gly, XP_006714607.1:p.Ala252Gly, XP_005271960.1:p.Ala252Gly, XP_016864577.1:p.Leu297Val, XP_011541498.1:p.Ala252Gly, XP_016864576.1:p.Leu297Val, XP_016864580.1:p.Ala166Gly, XP_016864578.1:p.Ala252Gly, XP_047272762.1:p.Ala166Gly, XP_047272763.1:p.Ala166Gly

Select item 142339536918.

rs1423395369 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:135880051 (GRCh38)
5:135215740 (GRCh37)
Canonical SPDI:: NC_000005.10:135880050:G:T
Gene:: SLC25A48 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.135880051G>T, NC_000005.9:g.135215740G>T, NM_001349335.2:c.735G>T, NM_001349335.1:c.735G>T, NM_001349345.2:c.343G>T, NM_001349345.1:c.343G>T, NM_001349336.2:c.897G>T, NM_001349336.1:c.897G>T, NR_146141.2:n.1082G>T, NR_146141.1:n.1069G>T, XM_011543199.2:c.763G>T, XM_011543199.1:c.763G>T, XM_006714544.2:c.763G>T, XM_006714544.1:c.763G>T, XM_005271903.2:c.763G>T, XM_005271903.1:c.763G>T, XM_017009088.2:c.897G>T, XM_017009088.1:c.897G>T, XM_011543196.2:c.763G>T, XM_011543196.1:c.763G>T, XM_017009087.2:c.897G>T, XM_017009087.1:c.897G>T, XM_017009091.2:c.505G>T, XM_017009091.1:c.505G>T, XM_017009089.2:c.763G>T, XM_017009089.1:c.763G>T, XM_047416806.1:c.505G>T, XM_047416807.1:c.505G>T, NP_001336274.1:p.Ala115Ser, XP_011541501.1:p.Ala255Ser, XP_006714607.1:p.Ala255Ser, XP_005271960.1:p.Ala255Ser, XP_011541498.1:p.Ala255Ser, XP_016864580.1:p.Ala169Ser, XP_016864578.1:p.Ala255Ser, XP_047272762.1:p.Ala169Ser, XP_047272763.1:p.Ala169Ser

Select item 142148912319.

rs1421489123 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:135880075 (GRCh38)
5:135215764 (GRCh37)
Canonical SPDI:: NC_000005.10:135880074:A:G
Gene:: SLC25A48 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.135880075A>G, NC_000005.9:g.135215764A>G, NM_001349335.2:c.759A>G, NM_001349335.1:c.759A>G, NM_001349345.2:c.367A>G, NM_001349345.1:c.367A>G, NM_001349336.2:c.921A>G, NM_001349336.1:c.921A>G, NR_146141.2:n.1106A>G, NR_146141.1:n.1093A>G, XM_011543199.2:c.787A>G, XM_011543199.1:c.787A>G, XM_006714544.2:c.787A>G, XM_006714544.1:c.787A>G, XM_005271903.2:c.787A>G, XM_005271903.1:c.787A>G, XM_017009088.2:c.921A>G, XM_017009088.1:c.921A>G, XM_011543196.2:c.787A>G, XM_011543196.1:c.787A>G, XM_017009087.2:c.921A>G, XM_017009087.1:c.921A>G, XM_017009091.2:c.529A>G, XM_017009091.1:c.529A>G, XM_017009089.2:c.787A>G, XM_017009089.1:c.787A>G, XM_047416806.1:c.529A>G, XM_047416807.1:c.529A>G, NP_001336274.1:p.Ser123Gly, XP_011541501.1:p.Ser263Gly, XP_006714607.1:p.Ser263Gly, XP_005271960.1:p.Ser263Gly, XP_011541498.1:p.Ser263Gly, XP_016864580.1:p.Ser177Gly, XP_016864578.1:p.Ser263Gly, XP_047272762.1:p.Ser177Gly, XP_047272763.1:p.Ser177Gly

Select item 141953648320.

rs1419536483 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:135879989 (GRCh38)
5:135215678 (GRCh37)
Canonical SPDI:: NC_000005.10:135879988:G:A
Gene:: SLC25A48 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,intron_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_exomes)
A=0.000029/4 (GnomAD)
HGVS:: NC_000005.10:g.135879989G>A, NC_000005.9:g.135215678G>A, NM_001349335.2:c.673G>A, NM_001349335.1:c.673G>A, NM_001349345.2:c.281G>A, NM_001349345.1:c.281G>A, NM_001349336.2:c.835G>A, NM_001349336.1:c.835G>A, NR_146141.2:n.1020G>A, NR_146141.1:n.1007G>A, XM_011543199.2:c.701G>A, XM_011543199.1:c.701G>A, XM_006714544.2:c.701G>A, XM_006714544.1:c.701G>A, XM_005271903.2:c.701G>A, XM_005271903.1:c.701G>A, XM_017009088.2:c.835G>A, XM_017009088.1:c.835G>A, XM_011543196.2:c.701G>A, XM_011543196.1:c.701G>A, XM_017009087.2:c.835G>A, XM_017009087.1:c.835G>A, XM_017009091.2:c.443G>A, XM_017009091.1:c.443G>A, XM_017009089.2:c.701G>A, XM_017009089.1:c.701G>A, XM_047416806.1:c.443G>A, XM_047416807.1:c.443G>A, NP_001336264.1:p.Val225Met, NP_001336274.1:p.Cys94Tyr, NP_001336265.1:p.Val279Met, XP_011541501.1:p.Cys234Tyr, XP_006714607.1:p.Cys234Tyr, XP_005271960.1:p.Cys234Tyr, XP_016864577.1:p.Val279Met, XP_011541498.1:p.Cys234Tyr, XP_016864576.1:p.Val279Met, XP_016864580.1:p.Cys148Tyr, XP_016864578.1:p.Cys234Tyr, XP_047272762.1:p.Cys148Tyr, XP_047272763.1:p.Cys148Tyr

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