SNP Links for Protein (Select 578809992) - SNP

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:7867250 (GRCh38)
5:7867363 (GRCh37)
Canonical SPDI:: NC_000005.10:7867249:A:G
Gene:: MTRR (Varview), FASTKD3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000005.10:g.7867250A>G, NC_000005.9:g.7867363A>G, NG_008856.1:g.3147A>G, NG_033101.1:g.6788T>C, NM_024091.4:c.834T>C, NM_024091.3:c.834T>C, XM_006714498.2:c.834T>C, XM_006714498.1:c.834T>C, XM_047417699.1:c.834T>C, XM_047417700.1:c.834T>C

Select item 14823733056.

rs1482373305 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:7867149 (GRCh38)
5:7867262 (GRCh37)
Canonical SPDI:: NC_000005.10:7867148:A:T
Gene:: MTRR (Varview), FASTKD3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.7867149A>T, NC_000005.9:g.7867262A>T, NG_008856.1:g.3046A>T, NG_033101.1:g.6889T>A, NM_024091.4:c.935T>A, NM_024091.3:c.935T>A, XM_006714498.2:c.935T>A, XM_006714498.1:c.935T>A, XM_047417699.1:c.935T>A, XM_047417700.1:c.935T>A, NP_076996.2:p.Phe312Tyr, XP_006714561.1:p.Phe312Tyr, XP_047273655.1:p.Phe312Tyr, XP_047273656.1:p.Phe312Tyr

Select item 14822883187.

rs1482288318 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:7866910 (GRCh38)
5:7867023 (GRCh37)
Canonical SPDI:: NC_000005.10:7866909:C:T
Gene:: MTRR (Varview), FASTKD3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000708/12 (TOMMO)
HGVS:: NC_000005.10:g.7866910C>T, NC_000005.9:g.7867023C>T, NG_008856.1:g.2807C>T, NG_033101.1:g.7128G>A, NM_024091.4:c.1174G>A, NM_024091.3:c.1174G>A, XM_006714498.2:c.1174G>A, XM_006714498.1:c.1174G>A, XM_047417699.1:c.1174G>A, XM_047417700.1:c.1174G>A, NP_076996.2:p.Val392Met, XP_006714561.1:p.Val392Met, XP_047273655.1:p.Val392Met, XP_047273656.1:p.Val392Met

Select item 14818959188.

rs1481895918 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:7866959 (GRCh38)
5:7867072 (GRCh37)
Canonical SPDI:: NC_000005.10:7866958:C:T
Gene:: MTRR (Varview), FASTKD3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000005.10:g.7866959C>T, NC_000005.9:g.7867072C>T, NG_008856.1:g.2856C>T, NG_033101.1:g.7079G>A, NM_024091.4:c.1125G>A, NM_024091.3:c.1125G>A, XM_006714498.2:c.1125G>A, XM_006714498.1:c.1125G>A, XM_047417699.1:c.1125G>A, XM_047417700.1:c.1125G>A, NP_076996.2:p.Met375Ile, XP_006714561.1:p.Met375Ile, XP_047273655.1:p.Met375Ile, XP_047273656.1:p.Met375Ile

Select item 14814006959.

rs1481400695 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:7861225 (GRCh38)
5:7861338 (GRCh37)
Canonical SPDI:: NC_000005.10:7861224:G:A
Gene:: MTRR (Varview), FASTKD3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.7861225G>A, NC_000005.9:g.7861338G>A, NG_033101.1:g.12813C>T, NM_024091.4:c.1808C>T, NM_024091.3:c.1808C>T, NR_073608.2:n.544C>T, NR_073608.1:n.550C>T, NR_036553.2:n.423C>T, NR_036553.1:n.429C>T, XM_006714498.2:c.1808C>T, XM_006714498.1:c.1808C>T, XM_047417699.1:c.1808C>T, NP_076996.2:p.Ser603Phe, XP_006714561.1:p.Ser603Phe, XP_047273655.1:p.Ser603Phe

Select item 147831001210.

rs1478310012 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 5:7868036 (GRCh38)
5:7868149 (GRCh37)
Canonical SPDI:: NC_000005.10:7868035:AAAA:AAA,NC_000005.10:7868035:AAAA:AAAAA
Gene:: MTRR (Varview), FASTKD3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,frameshift_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
HGVS:: NC_000005.10:g.7868039del, NC_000005.10:g.7868039dup, NC_000005.9:g.7868152del, NC_000005.9:g.7868152dup, NG_008856.1:g.3936del, NG_008856.1:g.3936dup, NG_033101.1:g.6002del, NG_033101.1:g.6002dup, NM_024091.4:c.48del, NM_024091.4:c.48dup, NM_024091.3:c.48del, NM_024091.3:c.48dup, XM_006714498.2:c.48del, XM_006714498.2:c.48dup, XM_006714498.1:c.48del, XM_006714498.1:c.48dup, XM_047417699.1:c.48del, XM_047417699.1:c.48dup, XM_047417700.1:c.48del, XM_047417700.1:c.48dup, NP_076996.2:p.Gln17fs, NP_076996.2:p.Gln17fs, XP_006714561.1:p.Gln17fs, XP_006714561.1:p.Gln17fs, XP_047273655.1:p.Gln17fs, XP_047273655.1:p.Gln17fs, XP_047273656.1:p.Gln17fs, XP_047273656.1:p.Gln17fs

Select item 147651166111.

rs1476511661 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 5:7867549 (GRCh38)
5:7867663 (GRCh37)
Canonical SPDI:: NC_000005.10:7867549::A
Gene:: MTRR (Varview), FASTKD3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,frameshift_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.7867549_7867550insA, NC_000005.9:g.7867662_7867663insA, NG_008856.1:g.3446_3447insA, NG_033101.1:g.6488_6489insT, NM_024091.4:c.534_535insT, NM_024091.3:c.534_535insT, XM_006714498.2:c.534_535insT, XM_006714498.1:c.534_535insT, XM_047417699.1:c.534_535insT, XM_047417700.1:c.534_535insT, NP_076996.2:p.Val179fs, XP_006714561.1:p.Val179fs, XP_047273655.1:p.Val179fs, XP_047273656.1:p.Val179fs

Select item 147398570512.

rs1473985705 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:7866733 (GRCh38)
5:7866846 (GRCh37)
Canonical SPDI:: NC_000005.10:7866732:G:A
Gene:: MTRR (Varview), FASTKD3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.7866733G>A, NC_000005.9:g.7866846G>A, NG_008856.1:g.2630G>A, NG_033101.1:g.7305C>T, NM_024091.4:c.1351C>T, NM_024091.3:c.1351C>T, XM_006714498.2:c.1351C>T, XM_006714498.1:c.1351C>T, XM_047417699.1:c.1351C>T, XM_047417700.1:c.1351C>T, NP_076996.2:p.Leu451Phe, XP_006714561.1:p.Leu451Phe, XP_047273655.1:p.Leu451Phe, XP_047273656.1:p.Leu451Phe

Select item 147226048713.

rs1472260487 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 5:7867157 (GRCh38)
5:7867270 (GRCh37)
Canonical SPDI:: NC_000005.10:7867156:A:G,NC_000005.10:7867156:A:T
Gene:: MTRR (Varview), FASTKD3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,synonymous_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.7867157A>G, NC_000005.10:g.7867157A>T, NC_000005.9:g.7867270A>G, NC_000005.9:g.7867270A>T, NG_008856.1:g.3054A>G, NG_008856.1:g.3054A>T, NG_033101.1:g.6881T>C, NG_033101.1:g.6881T>A, NM_024091.4:c.927T>C, NM_024091.4:c.927T>A, NM_024091.3:c.927T>C, NM_024091.3:c.927T>A, XM_006714498.2:c.927T>C, XM_006714498.2:c.927T>A, XM_006714498.1:c.927T>C, XM_006714498.1:c.927T>A, XM_047417699.1:c.927T>C, XM_047417699.1:c.927T>A, XM_047417700.1:c.927T>C, XM_047417700.1:c.927T>A, NP_076996.2:p.Ser309Arg, XP_006714561.1:p.Ser309Arg, XP_047273655.1:p.Ser309Arg, XP_047273656.1:p.Ser309Arg

Select item 147188290214.

rs1471882902 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:7867640 (GRCh38)
5:7867753 (GRCh37)
Canonical SPDI:: NC_000005.10:7867639:C:T
Gene:: MTRR (Varview), FASTKD3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.7867640C>T, NC_000005.9:g.7867753C>T, NG_008856.1:g.3537C>T, NG_033101.1:g.6398G>A, NM_024091.4:c.444G>A, NM_024091.3:c.444G>A, XM_006714498.2:c.444G>A, XM_006714498.1:c.444G>A, XM_047417699.1:c.444G>A, XM_047417700.1:c.444G>A

Select item 147111225615.

rs1471112256 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:7866939 (GRCh38)
5:7867052 (GRCh37)
Canonical SPDI:: NC_000005.10:7866938:A:G
Gene:: MTRR (Varview), FASTKD3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.7866939A>G, NC_000005.9:g.7867052A>G, NG_008856.1:g.2836A>G, NG_033101.1:g.7099T>C, NM_024091.4:c.1145T>C, NM_024091.3:c.1145T>C, XM_006714498.2:c.1145T>C, XM_006714498.1:c.1145T>C, XM_047417699.1:c.1145T>C, XM_047417700.1:c.1145T>C, NP_076996.2:p.Leu382Pro, XP_006714561.1:p.Leu382Pro, XP_047273655.1:p.Leu382Pro, XP_047273656.1:p.Leu382Pro

Select item 146912850916.

rs1469128509 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:7867810 (GRCh38)
5:7867923 (GRCh37)
Canonical SPDI:: NC_000005.10:7867809:G:A,NC_000005.10:7867809:G:T
Gene:: MTRR (Varview), FASTKD3 (Varview)
Functional Consequence:: missense_variant,stop_gained,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.7867810G>A, NC_000005.10:g.7867810G>T, NC_000005.9:g.7867923G>A, NC_000005.9:g.7867923G>T, NG_008856.1:g.3707G>A, NG_008856.1:g.3707G>T, NG_033101.1:g.6228C>T, NG_033101.1:g.6228C>A, NM_024091.4:c.274C>T, NM_024091.4:c.274C>A, NM_024091.3:c.274C>T, NM_024091.3:c.274C>A, XM_006714498.2:c.274C>T, XM_006714498.2:c.274C>A, XM_006714498.1:c.274C>T, XM_006714498.1:c.274C>A, XM_047417699.1:c.274C>T, XM_047417699.1:c.274C>A, XM_047417700.1:c.274C>T, XM_047417700.1:c.274C>A, NP_076996.2:p.Gln92Ter, NP_076996.2:p.Gln92Lys, XP_006714561.1:p.Gln92Ter, XP_006714561.1:p.Gln92Lys, XP_047273655.1:p.Gln92Ter, XP_047273655.1:p.Gln92Lys, XP_047273656.1:p.Gln92Ter, XP_047273656.1:p.Gln92Lys

Select item 146667867217.

rs1466678672 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTC>- [Show Flanks]
Chromosome:: 5:7867088 (GRCh38)
5:7867201 (GRCh37)
Canonical SPDI:: NC_000005.10:7867084:CTCCTC:CTC
Gene:: MTRR (Varview), FASTKD3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: CTCCTC=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.7867085CTC[1], NC_000005.9:g.7867198CTC[1], NG_008856.1:g.2982CTC[1], NG_033101.1:g.6948GAG[1], NM_024091.4:c.994GAG[1], NM_024091.3:c.994GAG[1], XM_006714498.2:c.994GAG[1], XM_006714498.1:c.994GAG[1], XM_047417699.1:c.994GAG[1], XM_047417700.1:c.994GAG[1], NP_076996.2:p.Glu333del, XP_006714561.1:p.Glu333del, XP_047273655.1:p.Glu333del, XP_047273656.1:p.Glu333del

Select item 146647205418.

rs1466472054 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:7867061 (GRCh38)
5:7867174 (GRCh37)
Canonical SPDI:: NC_000005.10:7867060:G:A
Gene:: MTRR (Varview), FASTKD3 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.7867061G>A, NC_000005.9:g.7867174G>A, NG_008856.1:g.2958G>A, NG_033101.1:g.6977C>T, NM_024091.4:c.1023C>T, NM_024091.3:c.1023C>T, XM_006714498.2:c.1023C>T, XM_006714498.1:c.1023C>T, XM_047417699.1:c.1023C>T, XM_047417700.1:c.1023C>T

Select item 146062659219.

rs1460626592 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:7866722 (GRCh38)
5:7866835 (GRCh37)
Canonical SPDI:: NC_000005.10:7866721:T:C
Gene:: MTRR (Varview), FASTKD3 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000047/1 (ALFA)
C=0./0 (GnomAD)
C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000005.10:g.7866722T>C, NC_000005.9:g.7866835T>C, NG_008856.1:g.2619T>C, NG_033101.1:g.7316A>G, NM_024091.4:c.1362A>G, NM_024091.3:c.1362A>G, XM_006714498.2:c.1362A>G, XM_006714498.1:c.1362A>G, XM_047417699.1:c.1362A>G, XM_047417700.1:c.1362A>G

Select item 145999755620.

rs1459997556 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 5:7867631 (GRCh38)
5:7867744 (GRCh37)
Canonical SPDI:: NC_000005.10:7867630:TTTT:TTT
Gene:: MTRR (Varview), FASTKD3 (Varview)
Functional Consequence:: frameshift_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.7867634del, NC_000005.9:g.7867747del, NG_008856.1:g.3531del, NG_033101.1:g.6407del, NM_024091.4:c.453del, NM_024091.3:c.453del, XM_006714498.2:c.453del, XM_006714498.1:c.453del, XM_047417699.1:c.453del, XM_047417700.1:c.453del, NP_076996.2:p.Glu152fs, XP_006714561.1:p.Glu152fs, XP_047273655.1:p.Glu152fs, XP_047273656.1:p.Glu152fs

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