SNP Links for Protein (Select 313851053) - SNP

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Links from Protein

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Select item 14839803421.

rs1483980342 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:156213107 (GRCh38)
1:156182898 (GRCh37)
Canonical SPDI:: NC_000001.11:156213106:C:G,NC_000001.11:156213106:C:T
Gene:: SLC25A44 (Varview), PMF1 (Varview), PMF1-BGLAP (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
G=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.156213107C>G, NC_000001.11:g.156213107C>T, NC_000001.10:g.156182898C>G, NC_000001.10:g.156182898C>T, NM_007221.4:c.92C>G, NM_007221.4:c.92C>T, NM_007221.3:c.92C>G, NM_007221.3:c.92C>T, NM_001199654.2:c.92C>G, NM_001199654.2:c.92C>T, NM_001199654.1:c.92C>G, NM_001199654.1:c.92C>T, NM_001199653.2:c.92C>G, NM_001199653.2:c.92C>T, NM_001199653.1:c.92C>G, NM_001199653.1:c.92C>T, NM_001393909.1:c.92C>G, NM_001393909.1:c.92C>T, NM_001393910.1:c.92C>G, NM_001393910.1:c.92C>T, NM_001393911.1:c.92C>G, NM_001393911.1:c.92C>T, NM_001199662.1:c.92C>G, NM_001199662.1:c.92C>T, NM_001199661.1:c.92C>G, NM_001199661.1:c.92C>T, NM_001393912.1:c.92C>G, NM_001393912.1:c.92C>T, NM_001393913.1:c.92C>G, NM_001393913.1:c.92C>T, NM_001393914.1:c.92C>G, NM_001393914.1:c.92C>T, NM_001199663.1:c.92C>G, NM_001199663.1:c.92C>T, NM_001393915.1:c.92C>G, NM_001393915.1:c.92C>T, NM_001199664.1:c.92C>G, NM_001199664.1:c.92C>T, NP_009152.2:p.Thr31Ser, NP_009152.2:p.Thr31Ile, NP_001186583.1:p.Thr31Ser, NP_001186583.1:p.Thr31Ile, NP_001186582.1:p.Thr31Ser, NP_001186582.1:p.Thr31Ile, NP_001380838.1:p.Thr31Ser, NP_001380838.1:p.Thr31Ile, NP_001380839.1:p.Thr31Ser, NP_001380839.1:p.Thr31Ile, NP_001380840.1:p.Thr31Ser, NP_001380840.1:p.Thr31Ile, NP_001186591.1:p.Thr31Ser, NP_001186591.1:p.Thr31Ile, NP_001186590.1:p.Thr31Ser, NP_001186590.1:p.Thr31Ile, NP_001380841.1:p.Thr31Ser, NP_001380841.1:p.Thr31Ile, NP_001380842.1:p.Thr31Ser, NP_001380842.1:p.Thr31Ile, NP_001380843.1:p.Thr31Ser, NP_001380843.1:p.Thr31Ile, NP_001186592.1:p.Thr31Ser, NP_001186592.1:p.Thr31Ile, NP_001380844.1:p.Thr31Ser, NP_001380844.1:p.Thr31Ile, NP_001186593.1:p.Thr31Ser, NP_001186593.1:p.Thr31Ile

Select item 14837595022.

rs1483759502 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:156236357 (GRCh38)
1:156206148 (GRCh37)
Canonical SPDI:: NC_000001.11:156236356:C:T
Gene:: PMF1 (Varview), PMF1-BGLAP (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.156236357C>T, NC_000001.10:g.156206148C>T, NM_007221.4:c.438C>T, NM_007221.3:c.438C>T, NM_001199654.2:c.444C>T, NM_001199654.1:c.444C>T, NM_001199653.2:c.377C>T, NM_001199653.1:c.377C>T, NM_001393909.1:c.435C>T, NM_001393910.1:c.383C>T, NM_001393911.1:c.374C>T, NM_001199662.1:c.438C>T, NM_001199661.1:c.377C>T, NM_001393912.1:c.276C>T, NM_001393914.1:c.231C>T, NM_001393915.1:c.170C>T, NM_001199664.1:c.231C>T, NP_001186582.1:p.Thr126Ile, NP_001380839.1:p.Thr128Ile, NP_001380840.1:p.Thr125Ile, NP_001186590.1:p.Thr126Ile, NP_001380844.1:p.Thr57Ile

Select item 14745102503.

rs1474510250 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:156213031 (GRCh38)
1:156182822 (GRCh37)
Canonical SPDI:: NC_000001.11:156213030:A:G
Gene:: SLC25A44 (Varview), PMF1 (Varview), PMF1-BGLAP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.156213031A>G, NC_000001.10:g.156182822A>G, NM_007221.4:c.16A>G, NM_007221.3:c.16A>G, NM_001199654.2:c.16A>G, NM_001199654.1:c.16A>G, NM_001199653.2:c.16A>G, NM_001199653.1:c.16A>G, NM_001393909.1:c.16A>G, NM_001393910.1:c.16A>G, NM_001393911.1:c.16A>G, NM_001199662.1:c.16A>G, NM_001199661.1:c.16A>G, NM_001393912.1:c.16A>G, NM_001393913.1:c.16A>G, NM_001393914.1:c.16A>G, NM_001199663.1:c.16A>G, NM_001393915.1:c.16A>G, NM_001199664.1:c.16A>G, NP_009152.2:p.Ser6Gly, NP_001186583.1:p.Ser6Gly, NP_001186582.1:p.Ser6Gly, NP_001380838.1:p.Ser6Gly, NP_001380839.1:p.Ser6Gly, NP_001380840.1:p.Ser6Gly, NP_001186591.1:p.Ser6Gly, NP_001186590.1:p.Ser6Gly, NP_001380841.1:p.Ser6Gly, NP_001380842.1:p.Ser6Gly, NP_001380843.1:p.Ser6Gly, NP_001186592.1:p.Ser6Gly, NP_001380844.1:p.Ser6Gly, NP_001186593.1:p.Ser6Gly

Select item 14656173354.

rs1465617335 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:156233630 (GRCh38)
1:156203421 (GRCh37)
Canonical SPDI:: NC_000001.11:156233629:G:C
Gene:: PMF1 (Varview), PMF1-BGLAP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,splice_acceptor_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.156233630G>C, NC_000001.10:g.156203421G>C, NM_007221.4:c.270G>C, NM_007221.3:c.270G>C, NM_001199654.2:c.276G>C, NM_001199654.1:c.276G>C, NM_001199653.2:c.270G>C, NM_001199653.1:c.270G>C, NM_001393910.1:c.276G>C, NM_001199662.1:c.270G>C, NM_001199661.1:c.270G>C, NM_001199663.1:c.270G>C, NP_009152.2:p.Glu90Asp, NP_001186583.1:p.Glu92Asp, NP_001186582.1:p.Glu90Asp, NP_001380839.1:p.Glu92Asp, NP_001186591.1:p.Glu90Asp, NP_001186590.1:p.Glu90Asp, NP_001186592.1:p.Glu90Asp

Select item 14605296155.

rs1460529615 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTC>- [Show Flanks]
Chromosome:: 1:156213152 (GRCh38)
1:156182943 (GRCh37)
Canonical SPDI:: NC_000001.11:156213148:TTCTTC:TTC
Gene:: SLC25A44 (Varview), PMF1 (Varview), PMF1-BGLAP (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.156213149TTC[1], NC_000001.10:g.156182940TTC[1], NM_007221.4:c.134TTC[1], NM_007221.3:c.134TTC[1], NM_001199654.2:c.134TTC[1], NM_001199654.1:c.134TTC[1], NM_001199653.2:c.134TTC[1], NM_001199653.1:c.134TTC[1], NM_001393909.1:c.134TTC[1], NM_001393910.1:c.134TTC[1], NM_001393911.1:c.134TTC[1], NM_001199662.1:c.134TTC[1], NM_001199661.1:c.134TTC[1], NM_001393912.1:c.134TTC[1], NM_001393913.1:c.134TTC[1], NM_001393914.1:c.134TTC[1], NM_001199663.1:c.134TTC[1], NM_001393915.1:c.134TTC[1], NM_001199664.1:c.134TTC[1], NP_009152.2:p.Leu46del, NP_001186583.1:p.Leu46del, NP_001186582.1:p.Leu46del, NP_001380838.1:p.Leu46del, NP_001380839.1:p.Leu46del, NP_001380840.1:p.Leu46del, NP_001186591.1:p.Leu46del, NP_001186590.1:p.Leu46del, NP_001380841.1:p.Leu46del, NP_001380842.1:p.Leu46del, NP_001380843.1:p.Leu46del, NP_001186592.1:p.Leu46del, NP_001380844.1:p.Leu46del, NP_001186593.1:p.Leu46del

Select item 14540505086.

rs1454050508 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:156213090 (GRCh38)
1:156182881 (GRCh37)
Canonical SPDI:: NC_000001.11:156213089:T:C,NC_000001.11:156213089:T:G
Gene:: SLC25A44 (Varview), PMF1 (Varview), PMF1-BGLAP (Varview)
Functional Consequence:: coding_sequence_variant,500B_downstream_variant,downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.156213090T>C, NC_000001.11:g.156213090T>G, NC_000001.10:g.156182881T>C, NC_000001.10:g.156182881T>G, NM_007221.4:c.75T>C, NM_007221.4:c.75T>G, NM_007221.3:c.75T>C, NM_007221.3:c.75T>G, NM_001199654.2:c.75T>C, NM_001199654.2:c.75T>G, NM_001199654.1:c.75T>C, NM_001199654.1:c.75T>G, NM_001199653.2:c.75T>C, NM_001199653.2:c.75T>G, NM_001199653.1:c.75T>C, NM_001199653.1:c.75T>G, NM_001393909.1:c.75T>C, NM_001393909.1:c.75T>G, NM_001393910.1:c.75T>C, NM_001393910.1:c.75T>G, NM_001393911.1:c.75T>C, NM_001393911.1:c.75T>G, NM_001199662.1:c.75T>C, NM_001199662.1:c.75T>G, NM_001199661.1:c.75T>C, NM_001199661.1:c.75T>G, NM_001393912.1:c.75T>C, NM_001393912.1:c.75T>G, NM_001393913.1:c.75T>C, NM_001393913.1:c.75T>G, NM_001393914.1:c.75T>C, NM_001393914.1:c.75T>G, NM_001199663.1:c.75T>C, NM_001199663.1:c.75T>G, NM_001393915.1:c.75T>C, NM_001393915.1:c.75T>G, NM_001199664.1:c.75T>C, NM_001199664.1:c.75T>G

Select item 14538032917.

rs1453803291 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:156232353 (GRCh38)
1:156202144 (GRCh37)
Canonical SPDI:: NC_000001.11:156232352:C:G,NC_000001.11:156232352:C:T
Gene:: PMF1 (Varview), PMF1-BGLAP (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.156232353C>G, NC_000001.11:g.156232353C>T, NC_000001.10:g.156202144C>G, NC_000001.10:g.156202144C>T, NM_007221.4:c.195C>G, NM_007221.4:c.195C>T, NM_007221.3:c.195C>G, NM_007221.3:c.195C>T, NM_001199653.2:c.195C>G, NM_001199653.2:c.195C>T, NM_001199653.1:c.195C>G, NM_001199653.1:c.195C>T, NM_001393909.1:c.195C>G, NM_001393909.1:c.195C>T, NM_001393911.1:c.195C>G, NM_001393911.1:c.195C>T, NM_001199662.1:c.195C>G, NM_001199662.1:c.195C>T, NM_001199661.1:c.195C>G, NM_001199661.1:c.195C>T, NM_001393912.1:c.195C>G, NM_001393912.1:c.195C>T, NM_001393913.1:c.195C>G, NM_001393913.1:c.195C>T, NM_001199663.1:c.195C>G, NM_001199663.1:c.195C>T, NP_009152.2:p.Phe65Leu, NP_001186582.1:p.Phe65Leu, NP_001380838.1:p.Phe65Leu, NP_001380840.1:p.Phe65Leu, NP_001186591.1:p.Phe65Leu, NP_001186590.1:p.Phe65Leu, NP_001380841.1:p.Phe65Leu, NP_001380842.1:p.Phe65Leu, NP_001186592.1:p.Phe65Leu

Select item 14531276488.

rs1453127648 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:156232344 (GRCh38)
1:156202135 (GRCh37)
Canonical SPDI:: NC_000001.11:156232343:T:C
Gene:: PMF1 (Varview), PMF1-BGLAP (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
HGVS:: NC_000001.11:g.156232344T>C, NC_000001.10:g.156202135T>C, NM_007221.4:c.186T>C, NM_007221.3:c.186T>C, NM_001199653.2:c.186T>C, NM_001199653.1:c.186T>C, NM_001393909.1:c.186T>C, NM_001393911.1:c.186T>C, NM_001199662.1:c.186T>C, NM_001199661.1:c.186T>C, NM_001393912.1:c.186T>C, NM_001393913.1:c.186T>C, NM_001199663.1:c.186T>C

Select item 14495763259.

rs1449576325 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:156213074 (GRCh38)
1:156182865 (GRCh37)
Canonical SPDI:: NC_000001.11:156213073:G:A
Gene:: SLC25A44 (Varview), PMF1 (Varview), PMF1-BGLAP (Varview)
Functional Consequence:: 500B_downstream_variant,missense_variant,downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000028/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.156213074G>A, NC_000001.10:g.156182865G>A, NM_007221.4:c.59G>A, NM_007221.3:c.59G>A, NM_001199654.2:c.59G>A, NM_001199654.1:c.59G>A, NM_001199653.2:c.59G>A, NM_001199653.1:c.59G>A, NM_001393909.1:c.59G>A, NM_001393910.1:c.59G>A, NM_001393911.1:c.59G>A, NM_001199662.1:c.59G>A, NM_001199661.1:c.59G>A, NM_001393912.1:c.59G>A, NM_001393913.1:c.59G>A, NM_001393914.1:c.59G>A, NM_001199663.1:c.59G>A, NM_001393915.1:c.59G>A, NM_001199664.1:c.59G>A, NP_009152.2:p.Gly20Glu, NP_001186583.1:p.Gly20Glu, NP_001186582.1:p.Gly20Glu, NP_001380838.1:p.Gly20Glu, NP_001380839.1:p.Gly20Glu, NP_001380840.1:p.Gly20Glu, NP_001186591.1:p.Gly20Glu, NP_001186590.1:p.Gly20Glu, NP_001380841.1:p.Gly20Glu, NP_001380842.1:p.Gly20Glu, NP_001380843.1:p.Gly20Glu, NP_001186592.1:p.Gly20Glu, NP_001380844.1:p.Gly20Glu, NP_001186593.1:p.Gly20Glu

Select item 144934021710.

rs1449340217 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:156213153 (GRCh38)
1:156182944 (GRCh37)
Canonical SPDI:: NC_000001.11:156213152:T:A
Gene:: SLC25A44 (Varview), PMF1 (Varview), PMF1-BGLAP (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.156213153T>A, NC_000001.10:g.156182944T>A, NM_007221.4:c.138T>A, NM_007221.3:c.138T>A, NM_001199654.2:c.138T>A, NM_001199654.1:c.138T>A, NM_001199653.2:c.138T>A, NM_001199653.1:c.138T>A, NM_001393909.1:c.138T>A, NM_001393910.1:c.138T>A, NM_001393911.1:c.138T>A, NM_001199662.1:c.138T>A, NM_001199661.1:c.138T>A, NM_001393912.1:c.138T>A, NM_001393913.1:c.138T>A, NM_001393914.1:c.138T>A, NM_001199663.1:c.138T>A, NM_001393915.1:c.138T>A, NM_001199664.1:c.138T>A

Select item 144587153611.

rs1445871536 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:156236392 (GRCh38)
1:156206183 (GRCh37)
Canonical SPDI:: NC_000001.11:156236391:A:T
Gene:: PMF1 (Varview), PMF1-BGLAP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.156236392A>T, NC_000001.10:g.156206183A>T, NM_007221.4:c.473A>T, NM_007221.3:c.473A>T, NM_001199654.2:c.479A>T, NM_001199654.1:c.479A>T, NM_001199653.2:c.412A>T, NM_001199653.1:c.412A>T, NM_001393909.1:c.470A>T, NM_001393910.1:c.418A>T, NM_001393911.1:c.409A>T, NM_001199662.1:c.473A>T, NM_001199661.1:c.412A>T, NM_001393912.1:c.311A>T, NM_001393913.1:c.281A>T, NM_001393914.1:c.266A>T, NM_001393915.1:c.205A>T, NM_001199664.1:c.266A>T, NP_009152.2:p.Glu158Val, NP_001186583.1:p.Glu160Val, NP_001186582.1:p.Arg138Ter, NP_001380838.1:p.Glu157Val, NP_001380839.1:p.Arg140Ter, NP_001380840.1:p.Arg137Ter, NP_001186591.1:p.Glu158Val, NP_001186590.1:p.Arg138Ter, NP_001380841.1:p.Glu104Val, NP_001380842.1:p.Glu94Val, NP_001380843.1:p.Glu89Val, NP_001380844.1:p.Arg69Ter, NP_001186593.1:p.Glu89Val

Select item 144362309212.

rs1443623092 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:156213117 (GRCh38)
1:156182908 (GRCh37)
Canonical SPDI:: NC_000001.11:156213116:G:A
Gene:: SLC25A44 (Varview), PMF1 (Varview), PMF1-BGLAP (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.156213117G>A, NC_000001.10:g.156182908G>A, NM_007221.4:c.102G>A, NM_007221.3:c.102G>A, NM_001199654.2:c.102G>A, NM_001199654.1:c.102G>A, NM_001199653.2:c.102G>A, NM_001199653.1:c.102G>A, NM_001393909.1:c.102G>A, NM_001393910.1:c.102G>A, NM_001393911.1:c.102G>A, NM_001199662.1:c.102G>A, NM_001199661.1:c.102G>A, NM_001393912.1:c.102G>A, NM_001393913.1:c.102G>A, NM_001393914.1:c.102G>A, NM_001199663.1:c.102G>A, NM_001393915.1:c.102G>A, NM_001199664.1:c.102G>A

Select item 144003507413.

rs1440035074 [Homo sapiens]

Variant type:: DEL
Alleles:: CTCCTC>- [Show Flanks]
Chromosome:: 1:156213124 (GRCh38)
1:156182915 (GRCh37)
Canonical SPDI:: NC_000001.11:156213123:CTCCTC:
Gene:: SLC25A44 (Varview), PMF1 (Varview), PMF1-BGLAP (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.156213124_156213129del, NC_000001.10:g.156182915_156182920del, NM_007221.4:c.109_114del, NM_007221.3:c.109_114del, NM_001199654.2:c.109_114del, NM_001199654.1:c.109_114del, NM_001199653.2:c.109_114del, NM_001199653.1:c.109_114del, NM_001393909.1:c.109_114del, NM_001393910.1:c.109_114del, NM_001393911.1:c.109_114del, NM_001199662.1:c.109_114del, NM_001199661.1:c.109_114del, NM_001393912.1:c.109_114del, NM_001393913.1:c.109_114del, NM_001393914.1:c.109_114del, NM_001199663.1:c.109_114del, NM_001393915.1:c.109_114del, NM_001199664.1:c.109_114del, NP_009152.2:p.Leu37_Leu38del, NP_001186583.1:p.Leu37_Leu38del, NP_001186582.1:p.Leu37_Leu38del, NP_001380838.1:p.Leu37_Leu38del, NP_001380839.1:p.Leu37_Leu38del, NP_001380840.1:p.Leu37_Leu38del, NP_001186591.1:p.Leu37_Leu38del, NP_001186590.1:p.Leu37_Leu38del, NP_001380841.1:p.Leu37_Leu38del, NP_001380842.1:p.Leu37_Leu38del, NP_001380843.1:p.Leu37_Leu38del, NP_001186592.1:p.Leu37_Leu38del, NP_001380844.1:p.Leu37_Leu38del, NP_001186593.1:p.Leu37_Leu38del

Select item 144000005114.

rs1440000051 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:156236375 (GRCh38)
1:156206166 (GRCh37)
Canonical SPDI:: NC_000001.11:156236374:G:A
Gene:: PMF1 (Varview), PMF1-BGLAP (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant,intron_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_000001.11:g.156236375G>A, NC_000001.10:g.156206166G>A, NM_007221.4:c.456G>A, NM_007221.3:c.456G>A, NM_001199654.2:c.462G>A, NM_001199654.1:c.462G>A, NM_001199653.2:c.395G>A, NM_001199653.1:c.395G>A, NM_001393909.1:c.453G>A, NM_001393910.1:c.401G>A, NM_001393911.1:c.392G>A, NM_001199662.1:c.456G>A, NM_001199661.1:c.395G>A, NM_001393912.1:c.294G>A, NM_001393914.1:c.249G>A, NM_001393915.1:c.188G>A, NM_001199664.1:c.249G>A, NP_001186582.1:p.Cys132Tyr, NP_001380839.1:p.Cys134Tyr, NP_001380840.1:p.Cys131Tyr, NP_001186590.1:p.Cys132Tyr, NP_001380844.1:p.Cys63Tyr

Select item 142537237115.

rs1425372371 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:156232373 (GRCh38)
1:156202164 (GRCh37)
Canonical SPDI:: NC_000001.11:156232372:T:A,NC_000001.11:156232372:T:C
Gene:: PMF1 (Varview), PMF1-BGLAP (Varview)
Functional Consequence:: coding_sequence_variant,intron_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_000001.11:g.156232373T>A, NC_000001.11:g.156232373T>C, NC_000001.10:g.156202164T>A, NC_000001.10:g.156202164T>C, NM_007221.4:c.215T>A, NM_007221.4:c.215T>C, NM_007221.3:c.215T>A, NM_007221.3:c.215T>C, NM_001199653.2:c.215T>A, NM_001199653.2:c.215T>C, NM_001199653.1:c.215T>A, NM_001199653.1:c.215T>C, NM_001393909.1:c.215T>A, NM_001393909.1:c.215T>C, NM_001393911.1:c.215T>A, NM_001393911.1:c.215T>C, NM_001199662.1:c.215T>A, NM_001199662.1:c.215T>C, NM_001199661.1:c.215T>A, NM_001199661.1:c.215T>C, NM_001393912.1:c.215T>A, NM_001393912.1:c.215T>C, NM_001393913.1:c.215T>A, NM_001393913.1:c.215T>C, NM_001199663.1:c.215T>A, NM_001199663.1:c.215T>C, NP_009152.2:p.Met72Lys, NP_009152.2:p.Met72Thr, NP_001186582.1:p.Met72Lys, NP_001186582.1:p.Met72Thr, NP_001380838.1:p.Met72Lys, NP_001380838.1:p.Met72Thr, NP_001380840.1:p.Met72Lys, NP_001380840.1:p.Met72Thr, NP_001186591.1:p.Met72Lys, NP_001186591.1:p.Met72Thr, NP_001186590.1:p.Met72Lys, NP_001186590.1:p.Met72Thr, NP_001380841.1:p.Met72Lys, NP_001380841.1:p.Met72Thr, NP_001380842.1:p.Met72Lys, NP_001380842.1:p.Met72Thr, NP_001186592.1:p.Met72Lys, NP_001186592.1:p.Met72Thr

Select item 141425383916.

rs1414253839 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:156213048 (GRCh38)
1:156182839 (GRCh37)
Canonical SPDI:: NC_000001.11:156213047:C:A,NC_000001.11:156213047:C:T
Gene:: SLC25A44 (Varview), PMF1 (Varview), PMF1-BGLAP (Varview)
Functional Consequence:: missense_variant,500B_downstream_variant,downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.156213048C>A, NC_000001.11:g.156213048C>T, NC_000001.10:g.156182839C>A, NC_000001.10:g.156182839C>T, NM_007221.4:c.33C>A, NM_007221.4:c.33C>T, NM_007221.3:c.33C>A, NM_007221.3:c.33C>T, NM_001199654.2:c.33C>A, NM_001199654.2:c.33C>T, NM_001199654.1:c.33C>A, NM_001199654.1:c.33C>T, NM_001199653.2:c.33C>A, NM_001199653.2:c.33C>T, NM_001199653.1:c.33C>A, NM_001199653.1:c.33C>T, NM_001393909.1:c.33C>A, NM_001393909.1:c.33C>T, NM_001393910.1:c.33C>A, NM_001393910.1:c.33C>T, NM_001393911.1:c.33C>A, NM_001393911.1:c.33C>T, NM_001199662.1:c.33C>A, NM_001199662.1:c.33C>T, NM_001199661.1:c.33C>A, NM_001199661.1:c.33C>T, NM_001393912.1:c.33C>A, NM_001393912.1:c.33C>T, NM_001393913.1:c.33C>A, NM_001393913.1:c.33C>T, NM_001393914.1:c.33C>A, NM_001393914.1:c.33C>T, NM_001199663.1:c.33C>A, NM_001199663.1:c.33C>T, NM_001393915.1:c.33C>A, NM_001393915.1:c.33C>T, NM_001199664.1:c.33C>A, NM_001199664.1:c.33C>T, NP_009152.2:p.Ser11Arg, NP_001186583.1:p.Ser11Arg, NP_001186582.1:p.Ser11Arg, NP_001380838.1:p.Ser11Arg, NP_001380839.1:p.Ser11Arg, NP_001380840.1:p.Ser11Arg, NP_001186591.1:p.Ser11Arg, NP_001186590.1:p.Ser11Arg, NP_001380841.1:p.Ser11Arg, NP_001380842.1:p.Ser11Arg, NP_001380843.1:p.Ser11Arg, NP_001186592.1:p.Ser11Arg, NP_001380844.1:p.Ser11Arg, NP_001186593.1:p.Ser11Arg

Select item 141188613117.

rs1411886131 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:156232365 (GRCh38)
1:156202156 (GRCh37)
Canonical SPDI:: NC_000001.11:156232364:G:A
Gene:: PMF1 (Varview), PMF1-BGLAP (Varview)
Functional Consequence:: intron_variant,coding_sequence_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)
A=0.000319/5 (TOMMO)
HGVS:: NC_000001.11:g.156232365G>A, NC_000001.10:g.156202156G>A, NM_007221.4:c.207G>A, NM_007221.3:c.207G>A, NM_001199653.2:c.207G>A, NM_001199653.1:c.207G>A, NM_001393909.1:c.207G>A, NM_001393911.1:c.207G>A, NM_001199662.1:c.207G>A, NM_001199661.1:c.207G>A, NM_001393912.1:c.207G>A, NM_001393913.1:c.207G>A, NM_001199663.1:c.207G>A

Select item 141008268718.

rs1410082687 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:156236382 (GRCh38)
1:156206173 (GRCh37)
Canonical SPDI:: NC_000001.11:156236381:C:T
Gene:: PMF1 (Varview), PMF1-BGLAP (Varview)
Functional Consequence:: stop_gained,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.156236382C>T, NC_000001.10:g.156206173C>T, NM_007221.4:c.463C>T, NM_007221.3:c.463C>T, NM_001199654.2:c.469C>T, NM_001199654.1:c.469C>T, NM_001199653.2:c.402C>T, NM_001199653.1:c.402C>T, NM_001393909.1:c.460C>T, NM_001393910.1:c.408C>T, NM_001393911.1:c.399C>T, NM_001199662.1:c.463C>T, NM_001199661.1:c.402C>T, NM_001393912.1:c.301C>T, NM_001393913.1:c.271C>T, NM_001393914.1:c.256C>T, NM_001393915.1:c.195C>T, NM_001199664.1:c.256C>T, NP_009152.2:p.Gln155Ter, NP_001186583.1:p.Gln157Ter, NP_001380838.1:p.Gln154Ter, NP_001186591.1:p.Gln155Ter, NP_001380841.1:p.Gln101Ter, NP_001380842.1:p.Gln91Ter, NP_001380843.1:p.Gln86Ter, NP_001186593.1:p.Gln86Ter

Select item 140700146919.

rs1407001469 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:156232391 (GRCh38)
1:156202182 (GRCh37)
Canonical SPDI:: NC_000001.11:156232390:A:C
Gene:: PMF1 (Varview), PMF1-BGLAP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.156232391A>C, NC_000001.10:g.156202182A>C, NM_007221.4:c.233A>C, NM_007221.3:c.233A>C, NM_001199653.2:c.233A>C, NM_001199653.1:c.233A>C, NM_001393909.1:c.233A>C, NM_001393911.1:c.233A>C, NM_001199662.1:c.233A>C, NM_001199661.1:c.233A>C, NM_001393912.1:c.233A>C, NM_001393913.1:c.233A>C, NM_001199663.1:c.233A>C, NP_009152.2:p.Asp78Ala, NP_001186582.1:p.Asp78Ala, NP_001380838.1:p.Asp78Ala, NP_001380840.1:p.Asp78Ala, NP_001186591.1:p.Asp78Ala, NP_001186590.1:p.Asp78Ala, NP_001380841.1:p.Asp78Ala, NP_001380842.1:p.Asp78Ala, NP_001186592.1:p.Asp78Ala

Select item 140072190920.

rs1400721909 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:156232408 (GRCh38)
1:156202199 (GRCh37)
Canonical SPDI:: NC_000001.11:156232407:T:A
Gene:: PMF1 (Varview), PMF1-BGLAP (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.156232408T>A, NC_000001.10:g.156202199T>A, NM_007221.4:c.250T>A, NM_007221.3:c.250T>A, NM_001199653.2:c.250T>A, NM_001199653.1:c.250T>A, NM_001393909.1:c.250T>A, NM_001393911.1:c.250T>A, NM_001199662.1:c.250T>A, NM_001199661.1:c.250T>A, NM_001393912.1:c.250T>A, NM_001393913.1:c.250T>A, NM_001199663.1:c.250T>A, NP_009152.2:p.Leu84Met, NP_001186582.1:p.Leu84Met, NP_001380838.1:p.Leu84Met, NP_001380840.1:p.Leu84Met, NP_001186591.1:p.Leu84Met, NP_001186590.1:p.Leu84Met, NP_001380841.1:p.Leu84Met, NP_001380842.1:p.Leu84Met, NP_001186592.1:p.Leu84Met

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