SNP Links for Protein (Select 158186612) - SNP

Links from Protein

Items: 1 to 20 of 424

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Select item 14884440001.

rs1488444000 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:116750026 (GRCh38)
12:117187831 (GRCh37)
Canonical SPDI:: NC_000012.12:116750025:A:C
Gene:: RNFT2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000012.12:g.116750026A>C, NC_000012.11:g.117187831A>C, NM_032814.4:c.269A>C, NM_032814.3:c.269A>C, NM_001109903.2:c.269A>C, NM_001109903.1:c.269A>C, NM_001382266.1:c.269A>C, XM_047429745.1:c.269A>C, XM_047429746.1:c.269A>C, XM_047429747.1:c.269A>C, NP_116203.2:p.Gln90Pro, NP_001103373.1:p.Gln90Pro, NP_001369195.1:p.Gln90Pro, XP_047285701.1:p.Gln90Pro, XP_047285702.1:p.Gln90Pro, XP_047285703.1:p.Gln90Pro

Select item 14854053172.

rs1485405317 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:116852705 (GRCh38)
12:117290510 (GRCh37)
Canonical SPDI:: NC_000012.12:116852704:G:A
Gene:: RNFT2 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.116852705G>A, NC_000012.11:g.117290510G>A, NM_032814.4:c.1256G>A, NM_032814.3:c.1256G>A, NM_001109903.2:c.*404G>A, NM_001109903.1:c.*404G>A, NM_001382266.1:c.*3257G>A, XM_047429745.1:c.*200G>A, NP_116203.2:p.Gly419Asp

Select item 14841635253.

rs1484163525 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:116750091 (GRCh38)
12:117187896 (GRCh37)
Canonical SPDI:: NC_000012.12:116750090:C:T
Gene:: RNFT2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000012.12:g.116750091C>T, NC_000012.11:g.117187896C>T, NM_032814.4:c.334C>T, NM_032814.3:c.334C>T, NM_001109903.2:c.334C>T, NM_001109903.1:c.334C>T, NM_001382266.1:c.334C>T, XM_047429745.1:c.334C>T, XM_047429746.1:c.334C>T, XM_047429747.1:c.334C>T, NP_116203.2:p.Pro112Ser, NP_001103373.1:p.Pro112Ser, NP_001369195.1:p.Pro112Ser, XP_047285701.1:p.Pro112Ser, XP_047285702.1:p.Pro112Ser, XP_047285703.1:p.Pro112Ser

Select item 14833956224.

rs1483395622 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:116836223 (GRCh38)
12:117274028 (GRCh37)
Canonical SPDI:: NC_000012.12:116836222:G:A
Gene:: RNFT2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_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_000012.12:g.116836223G>A, NC_000012.11:g.117274028G>A, NM_032814.4:c.1141G>A, NM_032814.3:c.1141G>A, NM_001109903.2:c.1141G>A, NM_001109903.1:c.1141G>A, NM_001382266.1:c.1141G>A, XM_047429745.1:c.1141G>A, XM_047429746.1:c.1141G>A, NP_116203.2:p.Gly381Ser, NP_001103373.1:p.Gly381Ser, NP_001369195.1:p.Gly381Ser, XP_047285701.1:p.Gly381Ser, XP_047285702.1:p.Gly381Ser

Select item 14823713395.

rs1482371339 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:116750142 (GRCh38)
12:117187947 (GRCh37)
Canonical SPDI:: NC_000012.12:116750141:C:G
Gene:: RNFT2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000012.12:g.116750142C>G, NC_000012.11:g.117187947C>G, NM_032814.4:c.385C>G, NM_032814.3:c.385C>G, NM_001109903.2:c.385C>G, NM_001109903.1:c.385C>G, NM_001382266.1:c.385C>G, XM_047429745.1:c.385C>G, XM_047429746.1:c.385C>G, XM_047429747.1:c.385C>G, NP_116203.2:p.His129Asp, NP_001103373.1:p.His129Asp, NP_001369195.1:p.His129Asp, XP_047285701.1:p.His129Asp, XP_047285702.1:p.His129Asp, XP_047285703.1:p.His129Asp

Select item 14823396196.

rs1482339619 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:116779263 (GRCh38)
12:117217068 (GRCh37)
Canonical SPDI:: NC_000012.12:116779262:C:G
Gene:: RNFT2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.116779263C>G, NC_000012.11:g.117217068C>G, NM_032814.4:c.797C>G, NM_032814.3:c.797C>G, NM_001109903.2:c.797C>G, NM_001109903.1:c.797C>G, NM_001382266.1:c.797C>G, XM_047429745.1:c.797C>G, XM_047429746.1:c.797C>G, XM_047429747.1:c.797C>G, NP_116203.2:p.Ala266Gly, NP_001103373.1:p.Ala266Gly, NP_001369195.1:p.Ala266Gly, XP_047285701.1:p.Ala266Gly, XP_047285702.1:p.Ala266Gly, XP_047285703.1:p.Ala266Gly

Select item 14816858127.

rs1481685812 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:116779347 (GRCh38)
12:117217152 (GRCh37)
Canonical SPDI:: NC_000012.12:116779346:A:G
Gene:: RNFT2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000012.12:g.116779347A>G, NC_000012.11:g.117217152A>G, NM_032814.4:c.881A>G, NM_032814.3:c.881A>G, NM_001109903.2:c.881A>G, NM_001109903.1:c.881A>G, NM_001382266.1:c.881A>G, XM_047429745.1:c.881A>G, XM_047429746.1:c.881A>G, XM_047429747.1:c.881A>G, NP_116203.2:p.Lys294Arg, NP_001103373.1:p.Lys294Arg, NP_001369195.1:p.Lys294Arg, XP_047285701.1:p.Lys294Arg, XP_047285702.1:p.Lys294Arg, XP_047285703.1:p.Lys294Arg

Select item 14778792628.

rs1477879262 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:116852711 (GRCh38)
12:117290516 (GRCh37)
Canonical SPDI:: NC_000012.12:116852710:A:T
Gene:: RNFT2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,stop_lost,genic_downstream_transcript_variant,terminator_codon_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.116852711A>T, NC_000012.11:g.117290516A>T, NM_032814.4:c.1262A>T, NM_032814.3:c.1262A>T, NM_001109903.2:c.*410A>T, NM_001109903.1:c.*410A>T, NM_001382266.1:c.*3263A>T, XM_047429745.1:c.*206A>T, NP_116203.2:p.Ter421Leu

Select item 14713720869.

rs1471372086 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:116750274 (GRCh38)
12:117188079 (GRCh37)
Canonical SPDI:: NC_000012.12:116750273:C:A
Gene:: RNFT2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.116750274C>A, NC_000012.11:g.117188079C>A, NM_032814.4:c.517C>A, NM_032814.3:c.517C>A, NM_001109903.2:c.517C>A, NM_001109903.1:c.517C>A, NM_001382266.1:c.517C>A, XM_047429745.1:c.517C>A, XM_047429746.1:c.517C>A, XM_047429747.1:c.517C>A, NP_116203.2:p.Leu173Ile, NP_001103373.1:p.Leu173Ile, NP_001369195.1:p.Leu173Ile, XP_047285701.1:p.Leu173Ile, XP_047285702.1:p.Leu173Ile, XP_047285703.1:p.Leu173Ile

Select item 146942860010.

rs1469428600 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:116750036 (GRCh38)
12:117187841 (GRCh37)
Canonical SPDI:: NC_000012.12:116750035:G:A
Gene:: RNFT2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.116750036G>A, NC_000012.11:g.117187841G>A, NM_032814.4:c.279G>A, NM_032814.3:c.279G>A, NM_001109903.2:c.279G>A, NM_001109903.1:c.279G>A, NM_001382266.1:c.279G>A, XM_047429745.1:c.279G>A, XM_047429746.1:c.279G>A, XM_047429747.1:c.279G>A

Select item 146907038011.

rs1469070380 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:116766841 (GRCh38)
12:117204646 (GRCh37)
Canonical SPDI:: NC_000012.12:116766840:T:C
Gene:: RNFT2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000012.12:g.116766841T>C, NC_000012.11:g.117204646T>C, NM_032814.4:c.655T>C, NM_032814.3:c.655T>C, NM_001109903.2:c.655T>C, NM_001109903.1:c.655T>C, NM_001382266.1:c.655T>C, XM_047429745.1:c.655T>C, XM_047429746.1:c.655T>C, XM_047429747.1:c.655T>C, NP_116203.2:p.Trp219Arg, NP_001103373.1:p.Trp219Arg, NP_001369195.1:p.Trp219Arg, XP_047285701.1:p.Trp219Arg, XP_047285702.1:p.Trp219Arg, XP_047285703.1:p.Trp219Arg

Select item 146877834412.

rs1468778344 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:116750067 (GRCh38)
12:117187872 (GRCh37)
Canonical SPDI:: NC_000012.12:116750066:G:A
Gene:: RNFT2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.116750067G>A, NC_000012.11:g.117187872G>A, NM_032814.4:c.310G>A, NM_032814.3:c.310G>A, NM_001109903.2:c.310G>A, NM_001109903.1:c.310G>A, NM_001382266.1:c.310G>A, XM_047429745.1:c.310G>A, XM_047429746.1:c.310G>A, XM_047429747.1:c.310G>A, NP_116203.2:p.Gly104Arg, NP_001103373.1:p.Gly104Arg, NP_001369195.1:p.Gly104Arg, XP_047285701.1:p.Gly104Arg, XP_047285702.1:p.Gly104Arg, XP_047285703.1:p.Gly104Arg

Select item 146585613013.

rs1465856130 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:116766832 (GRCh38)
12:117204637 (GRCh37)
Canonical SPDI:: NC_000012.12:116766831:G:T
Gene:: RNFT2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000012.12:g.116766832G>T, NC_000012.11:g.117204637G>T, NM_032814.4:c.646G>T, NM_032814.3:c.646G>T, NM_001109903.2:c.646G>T, NM_001109903.1:c.646G>T, NM_001382266.1:c.646G>T, XM_047429745.1:c.646G>T, XM_047429746.1:c.646G>T, XM_047429747.1:c.646G>T, NP_116203.2:p.Val216Phe, NP_001103373.1:p.Val216Phe, NP_001369195.1:p.Val216Phe, XP_047285701.1:p.Val216Phe, XP_047285702.1:p.Val216Phe, XP_047285703.1:p.Val216Phe

Select item 146544711714.

rs1465447117 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:116741087 (GRCh38)
12:117178892 (GRCh37)
Canonical SPDI:: NC_000012.12:116741086:C:T
Gene:: RNFT2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.116741087C>T, NC_000012.11:g.117178892C>T, NM_032814.4:c.76C>T, NM_032814.3:c.76C>T, NM_001109903.2:c.76C>T, NM_001109903.1:c.76C>T, NM_001382266.1:c.76C>T, XM_047429745.1:c.76C>T, XM_047429746.1:c.76C>T, XM_047429747.1:c.76C>T, NP_116203.2:p.Pro26Ser, NP_001103373.1:p.Pro26Ser, NP_001369195.1:p.Pro26Ser, XP_047285701.1:p.Pro26Ser, XP_047285702.1:p.Pro26Ser, XP_047285703.1:p.Pro26Ser

Select item 146454126115.

rs1464541261 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:116750199 (GRCh38)
12:117188004 (GRCh37)
Canonical SPDI:: NC_000012.12:116750198:A:G
Gene:: RNFT2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000051/2 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.116750199A>G, NC_000012.11:g.117188004A>G, NM_032814.4:c.442A>G, NM_032814.3:c.442A>G, NM_001109903.2:c.442A>G, NM_001109903.1:c.442A>G, NM_001382266.1:c.442A>G, XM_047429745.1:c.442A>G, XM_047429746.1:c.442A>G, XM_047429747.1:c.442A>G, NP_116203.2:p.Thr148Ala, NP_001103373.1:p.Thr148Ala, NP_001369195.1:p.Thr148Ala, XP_047285701.1:p.Thr148Ala, XP_047285702.1:p.Thr148Ala, XP_047285703.1:p.Thr148Ala

Select item 146434187416.

rs1464341874 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:116779276 (GRCh38)
12:117217081 (GRCh37)
Canonical SPDI:: NC_000012.12:116779275:G:A
Gene:: RNFT2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.116779276G>A, NC_000012.11:g.117217081G>A, NM_032814.4:c.810G>A, NM_032814.3:c.810G>A, NM_001109903.2:c.810G>A, NM_001109903.1:c.810G>A, NM_001382266.1:c.810G>A, XM_047429745.1:c.810G>A, XM_047429746.1:c.810G>A, XM_047429747.1:c.810G>A

Select item 146122344517.

rs1461223445 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:116836188 (GRCh38)
12:117273993 (GRCh37)
Canonical SPDI:: NC_000012.12:116836187:G:A
Gene:: RNFT2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
HGVS:: NC_000012.12:g.116836188G>A, NC_000012.11:g.117273993G>A, NM_032814.4:c.1106G>A, NM_032814.3:c.1106G>A, NM_001109903.2:c.1106G>A, NM_001109903.1:c.1106G>A, NM_001382266.1:c.1106G>A, XM_047429745.1:c.1106G>A, XM_047429746.1:c.1106G>A, NP_116203.2:p.Gly369Glu, NP_001103373.1:p.Gly369Glu, NP_001369195.1:p.Gly369Glu, XP_047285701.1:p.Gly369Glu, XP_047285702.1:p.Gly369Glu

Select item 145667948718.

rs1456679487 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:116833914 (GRCh38)
12:117271719 (GRCh37)
Canonical SPDI:: NC_000012.12:116833913:C:T
Gene:: RNFT2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00025/4 (TOMMO)
T=0.00055/1 (Korea1K)
HGVS:: NC_000012.12:g.116833914C>T, NC_000012.11:g.117271719C>T, NM_032814.4:c.1005C>T, NM_032814.3:c.1005C>T, NM_001109903.2:c.1005C>T, NM_001109903.1:c.1005C>T, NM_001382266.1:c.1005C>T, XM_047429745.1:c.1005C>T, XM_047429746.1:c.1005C>T, XM_047429747.1:c.*92C>T

Select item 145644235519.

rs1456442355 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:116750055 (GRCh38)
12:117187860 (GRCh37)
Canonical SPDI:: NC_000012.12:116750054:G:A
Gene:: RNFT2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.116750055G>A, NC_000012.11:g.117187860G>A, NM_032814.4:c.298G>A, NM_032814.3:c.298G>A, NM_001109903.2:c.298G>A, NM_001109903.1:c.298G>A, NM_001382266.1:c.298G>A, XM_047429745.1:c.298G>A, XM_047429746.1:c.298G>A, XM_047429747.1:c.298G>A, NP_116203.2:p.Gly100Ser, NP_001103373.1:p.Gly100Ser, NP_001369195.1:p.Gly100Ser, XP_047285701.1:p.Gly100Ser, XP_047285702.1:p.Gly100Ser, XP_047285703.1:p.Gly100Ser

Select item 145540224620.

rs1455402246 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:116766865 (GRCh38)
12:117204670 (GRCh37)
Canonical SPDI:: NC_000012.12:116766864:A:T
Gene:: RNFT2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000012.12:g.116766865A>T, NC_000012.11:g.117204670A>T, NM_032814.4:c.679A>T, NM_032814.3:c.679A>T, NM_001109903.2:c.679A>T, NM_001109903.1:c.679A>T, NM_001382266.1:c.679A>T, XM_047429745.1:c.679A>T, XM_047429746.1:c.679A>T, XM_047429747.1:c.679A>T, NP_116203.2:p.Asn227Tyr, NP_001103373.1:p.Asn227Tyr, NP_001369195.1:p.Asn227Tyr, XP_047285701.1:p.Asn227Tyr, XP_047285702.1:p.Asn227Tyr, XP_047285703.1:p.Asn227Tyr

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