SNP Links for Protein (Select 1003701501) - SNP

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Links from Protein

Items: 1 to 20 of 235

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Select item 14882260101.

rs1488226010 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:52659193 (GRCh38)
13:53233328 (GRCh37)
Canonical SPDI:: NC_000013.11:52659192:A:G
Gene:: SUGT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00006/1 (TOMMO)
HGVS:: NC_000013.11:g.52659193A>G, NC_000013.10:g.53233328A>G, NG_029521.2:g.11498A>G, NM_001130912.2:c.272A>G, NM_001130912.3:c.272A>G, NM_001130912.1:c.272A>G, NM_006704.5:c.272A>G, NM_006704.4:c.272A>G, NM_006704.3:c.272A>G, NM_001320831.2:c.104A>G, NM_001320831.1:c.104A>G, XM_017020365.2:c.272A>G, XM_017020365.1:c.272A>G, XM_047430066.1:c.104A>G, XM_047430065.1:c.29A>G, NP_001124384.1:p.His91Arg, NP_006695.1:p.His91Arg, NP_001307760.1:p.His35Arg, XP_016875854.1:p.His91Arg, XP_047286022.1:p.His35Arg, XP_047286021.1:p.His10Arg

Select item 14871170382.

rs1487117038 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 13:52687767 (GRCh38)
13:53261902 (GRCh37)
Canonical SPDI:: NC_000013.11:52687766:T:G
Gene:: SUGT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.52687767T>G, NC_000013.10:g.53261902T>G, NG_029521.2:g.40072T>G, NM_001130912.2:c.1030T>G, NM_001130912.3:c.1030T>G, NM_001130912.1:c.1030T>G, NM_006704.5:c.934T>G, NM_006704.4:c.934T>G, NM_006704.3:c.934T>G, NM_001320831.2:c.766T>G, NM_001320831.1:c.766T>G, XM_017020365.2:c.1027T>G, XM_017020365.1:c.1027T>G, XM_047430066.1:c.766T>G, XM_047430065.1:c.787T>G, NP_001124384.1:p.Trp344Gly, NP_006695.1:p.Trp312Gly, NP_001307760.1:p.Trp256Gly, XP_016875854.1:p.Trp343Gly, XP_047286022.1:p.Trp256Gly, XP_047286021.1:p.Trp263Gly

Select item 14773276293.

rs1477327629 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:52658453 (GRCh38)
13:53232588 (GRCh37)
Canonical SPDI:: NC_000013.11:52658452:C:T
Gene:: SUGT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.52658453C>T, NC_000013.10:g.53232588C>T, NG_029521.2:g.10758C>T, NM_001130912.2:c.242C>T, NM_001130912.3:c.242C>T, NM_001130912.1:c.242C>T, NM_006704.5:c.242C>T, NM_006704.4:c.242C>T, NM_006704.3:c.242C>T, NM_001320831.2:c.74C>T, NM_001320831.1:c.74C>T, XM_017020365.2:c.242C>T, XM_017020365.1:c.242C>T, XM_047430066.1:c.74C>T, XM_047430065.1:c.-2C>T, NP_001124384.1:p.Ala81Val, NP_006695.1:p.Ala81Val, NP_001307760.1:p.Ala25Val, XP_016875854.1:p.Ala81Val, XP_047286022.1:p.Ala25Val

Select item 14766538124.

rs1476653812 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:52665641 (GRCh38)
13:53239776 (GRCh37)
Canonical SPDI:: NC_000013.11:52665640:G:A
Gene:: SUGT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.0003/1 (KOREAN)
HGVS:: NC_000013.11:g.52665641G>A, NC_000013.10:g.53239776G>A, NG_029521.2:g.17946G>A, NM_001130912.2:c.523G>A, NM_001130912.3:c.523G>A, NM_001130912.1:c.523G>A, NM_006704.5:c.427G>A, NM_006704.4:c.427G>A, NM_006704.3:c.427G>A, NM_001320831.2:c.259G>A, NM_001320831.1:c.259G>A, XM_017020365.2:c.520G>A, XM_017020365.1:c.520G>A, XM_047430066.1:c.259G>A, XM_047430065.1:c.280G>A, NP_001124384.1:p.Asp175Asn, NP_006695.1:p.Asp143Asn, NP_001307760.1:p.Asp87Asn, XP_016875854.1:p.Asp174Asn, XP_047286022.1:p.Asp87Asn, XP_047286021.1:p.Asp94Asn

Select item 14762094975.

rs1476209497 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:52680102 (GRCh38)
13:53254237 (GRCh37)
Canonical SPDI:: NC_000013.11:52680101:C:T
Gene:: SUGT1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.52680102C>T, NC_000013.10:g.53254237C>T, NG_029521.2:g.32407C>T, NM_001130912.2:c.943C>T, NM_001130912.3:c.943C>T, NM_001130912.1:c.943C>T, NM_006704.5:c.847C>T, NM_006704.4:c.847C>T, NM_006704.3:c.847C>T, NM_001320831.2:c.679C>T, NM_001320831.1:c.679C>T, XM_017020365.2:c.940C>T, XM_017020365.1:c.940C>T, XM_047430066.1:c.679C>T, XM_047430065.1:c.700C>T, NP_001124384.1:p.Gln315Ter, NP_006695.1:p.Gln283Ter, NP_001307760.1:p.Gln227Ter, XP_016875854.1:p.Gln314Ter, XP_047286022.1:p.Gln227Ter, XP_047286021.1:p.Gln234Ter

Select item 14688821226.

rs1468882122 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:52664042 (GRCh38)
13:53238177 (GRCh37)
Canonical SPDI:: NC_000013.11:52664041:A:G
Gene:: SUGT1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000013.11:g.52664042A>G, NC_000013.10:g.53238177A>G, NG_029521.2:g.16347A>G, NM_001130912.2:c.503A>G, NM_001130912.3:c.503A>G, NM_001130912.1:c.503A>G, NM_006704.5:c.407A>G, NM_006704.4:c.407A>G, NM_006704.3:c.407A>G, NM_001320831.2:c.239A>G, NM_001320831.1:c.239A>G, XM_017020365.2:c.500A>G, XM_017020365.1:c.500A>G, XM_047430066.1:c.239A>G, XM_047430065.1:c.260A>G, NP_001124384.1:p.His168Arg, NP_006695.1:p.His136Arg, NP_001307760.1:p.His80Arg, XP_016875854.1:p.His167Arg, XP_047286022.1:p.His80Arg, XP_047286021.1:p.His87Arg

Select item 14681980187.

rs1468198018 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:52658427 (GRCh38)
13:53232562 (GRCh37)
Canonical SPDI:: NC_000013.11:52658426:A:G
Gene:: SUGT1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000036/5 (GnomAD)
G=0.000045/12 (TOPMED)
HGVS:: NC_000013.11:g.52658427A>G, NC_000013.10:g.53232562A>G, NG_029521.2:g.10732A>G, NM_001130912.2:c.216A>G, NM_001130912.3:c.216A>G, NM_001130912.1:c.216A>G, NM_006704.5:c.216A>G, NM_006704.4:c.216A>G, NM_006704.3:c.216A>G, NM_001320831.2:c.48A>G, NM_001320831.1:c.48A>G, XM_017020365.2:c.216A>G, XM_017020365.1:c.216A>G, XM_047430066.1:c.48A>G, XM_047430065.1:c.-28A>G

Select item 14662026918.

rs1466202691 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 13:52658437 (GRCh38)
13:53232572 (GRCh37)
Canonical SPDI:: NC_000013.11:52658436:C:A,NC_000013.11:52658436:C:T
Gene:: SUGT1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.52658437C>A, NC_000013.11:g.52658437C>T, NC_000013.10:g.53232572C>A, NC_000013.10:g.53232572C>T, NG_029521.2:g.10742C>A, NG_029521.2:g.10742C>T, NM_001130912.2:c.226C>A, NM_001130912.2:c.226C>T, NM_001130912.3:c.226C>A, NM_001130912.3:c.226C>T, NM_001130912.1:c.226C>A, NM_001130912.1:c.226C>T, NM_006704.5:c.226C>A, NM_006704.5:c.226C>T, NM_006704.4:c.226C>A, NM_006704.4:c.226C>T, NM_006704.3:c.226C>A, NM_006704.3:c.226C>T, NM_001320831.2:c.58C>A, NM_001320831.2:c.58C>T, NM_001320831.1:c.58C>A, NM_001320831.1:c.58C>T, XM_017020365.2:c.226C>A, XM_017020365.2:c.226C>T, XM_017020365.1:c.226C>A, XM_017020365.1:c.226C>T, XM_047430066.1:c.58C>A, XM_047430066.1:c.58C>T, XM_047430065.1:c.-18C>A, XM_047430065.1:c.-18C>T, NP_001124384.1:p.Pro76Thr, NP_001124384.1:p.Pro76Ser, NP_006695.1:p.Pro76Thr, NP_006695.1:p.Pro76Ser, NP_001307760.1:p.Pro20Thr, NP_001307760.1:p.Pro20Ser, XP_016875854.1:p.Pro76Thr, XP_016875854.1:p.Pro76Ser, XP_047286022.1:p.Pro20Thr, XP_047286022.1:p.Pro20Ser

Select item 14604331919.

rs1460433191 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 13:52666873 (GRCh38)
13:53241008 (GRCh37)
Canonical SPDI:: NC_000013.11:52666872:A:T
Gene:: SUGT1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.52666873A>T, NC_000013.10:g.53241008A>T, NG_029521.2:g.19178A>T, NM_001130912.2:c.677A>T, NM_001130912.3:c.677A>T, NM_001130912.1:c.677A>T, NM_006704.5:c.581A>T, NM_006704.4:c.581A>T, NM_006704.3:c.581A>T, NM_001320831.2:c.413A>T, NM_001320831.1:c.413A>T, XM_017020365.2:c.674A>T, XM_017020365.1:c.674A>T, XM_047430066.1:c.413A>T, XM_047430065.1:c.434A>T, NP_001124384.1:p.His226Leu, NP_006695.1:p.His194Leu, NP_001307760.1:p.His138Leu, XP_016875854.1:p.His225Leu, XP_047286022.1:p.His138Leu, XP_047286021.1:p.His145Leu

Select item 145971460110.

rs1459714601 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:52662679 (GRCh38)
13:53236814 (GRCh37)
Canonical SPDI:: NC_000013.11:52662678:A:G
Gene:: SUGT1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000013.11:g.52662679A>G, NC_000013.10:g.53236814A>G, NG_029521.2:g.14984A>G, NM_001130912.2:c.455A>G, NM_001130912.3:c.455A>G, NM_001130912.1:c.455A>G, NM_006704.5:c.359A>G, NM_006704.4:c.359A>G, NM_006704.3:c.359A>G, NM_001320831.2:c.191A>G, NM_001320831.1:c.191A>G, XM_017020365.2:c.452A>G, XM_017020365.1:c.452A>G, XM_047430066.1:c.191A>G, XM_047430065.1:c.212A>G, NP_001124384.1:p.Lys152Arg, NP_006695.1:p.Lys120Arg, NP_001307760.1:p.Lys64Arg, XP_016875854.1:p.Lys151Arg, XP_047286022.1:p.Lys64Arg, XP_047286021.1:p.Lys71Arg

Select item 145727707611.

rs1457277076 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:52680008 (GRCh38)
13:53254143 (GRCh37)
Canonical SPDI:: NC_000013.11:52680007:T:C
Gene:: SUGT1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.52680008T>C, NC_000013.10:g.53254143T>C, NG_029521.2:g.32313T>C, NM_001130912.2:c.849T>C, NM_001130912.3:c.849T>C, NM_001130912.1:c.849T>C, NM_006704.5:c.753T>C, NM_006704.4:c.753T>C, NM_006704.3:c.753T>C, NM_001320831.2:c.585T>C, NM_001320831.1:c.585T>C, XM_017020365.2:c.846T>C, XM_017020365.1:c.846T>C, XM_047430066.1:c.585T>C, XM_047430065.1:c.606T>C

Select item 145466712012.

rs1454667120 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 13:52659183 (GRCh38)
13:53233318 (GRCh37)
Canonical SPDI:: NC_000013.11:52659182:T:A
Gene:: SUGT1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.52659183T>A, NC_000013.10:g.53233318T>A, NG_029521.2:g.11488T>A, NM_001130912.2:c.262T>A, NM_001130912.3:c.262T>A, NM_001130912.1:c.262T>A, NM_006704.5:c.262T>A, NM_006704.4:c.262T>A, NM_006704.3:c.262T>A, NM_001320831.2:c.94T>A, NM_001320831.1:c.94T>A, XM_017020365.2:c.262T>A, XM_017020365.1:c.262T>A, XM_047430066.1:c.94T>A, XM_047430065.1:c.19T>A, NP_001124384.1:p.Cys88Ser, NP_006695.1:p.Cys88Ser, NP_001307760.1:p.Cys32Ser, XP_016875854.1:p.Cys88Ser, XP_047286022.1:p.Cys32Ser, XP_047286021.1:p.Cys7Ser

Select item 145304024313.

rs1453040243 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:52687780 (GRCh38)
13:53261915 (GRCh37)
Canonical SPDI:: NC_000013.11:52687779:G:A
Gene:: SUGT1 (Varview)
Functional Consequence:: missense_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_000013.11:g.52687780G>A, NC_000013.10:g.53261915G>A, NG_029521.2:g.40085G>A, NM_001130912.2:c.1043G>A, NM_001130912.3:c.1043G>A, NM_001130912.1:c.1043G>A, NM_006704.5:c.947G>A, NM_006704.4:c.947G>A, NM_006704.3:c.947G>A, NM_001320831.2:c.779G>A, NM_001320831.1:c.779G>A, XM_017020365.2:c.1040G>A, XM_017020365.1:c.1040G>A, XM_047430066.1:c.779G>A, XM_047430065.1:c.800G>A, NP_001124384.1:p.Gly348Asp, NP_006695.1:p.Gly316Asp, NP_001307760.1:p.Gly260Asp, XP_016875854.1:p.Gly347Asp, XP_047286022.1:p.Gly260Asp, XP_047286021.1:p.Gly267Asp

Select item 145106488214.

rs1451064882 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:52658440 (GRCh38)
13:53232575 (GRCh37)
Canonical SPDI:: NC_000013.11:52658439:A:G
Gene:: SUGT1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000013.11:g.52658440A>G, NC_000013.10:g.53232575A>G, NG_029521.2:g.10745A>G, NM_001130912.2:c.229A>G, NM_001130912.3:c.229A>G, NM_001130912.1:c.229A>G, NM_006704.5:c.229A>G, NM_006704.4:c.229A>G, NM_006704.3:c.229A>G, NM_001320831.2:c.61A>G, NM_001320831.1:c.61A>G, XM_017020365.2:c.229A>G, XM_017020365.1:c.229A>G, XM_047430066.1:c.61A>G, XM_047430065.1:c.-15A>G, NP_001124384.1:p.Asn77Asp, NP_006695.1:p.Asn77Asp, NP_001307760.1:p.Asn21Asp, XP_016875854.1:p.Asn77Asp, XP_047286022.1:p.Asn21Asp

Select item 144939461915.

rs1449394619 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 13:52665719 (GRCh38)
13:53239854 (GRCh37)
Canonical SPDI:: NC_000013.11:52665718:TTTT:TTT
Gene:: SUGT1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: TTT=0./0 (ALFA)
HGVS:: NC_000013.11:g.52665722del, NC_000013.10:g.53239857del, NG_029521.2:g.18027del, NM_001130912.2:c.604del, NM_001130912.3:c.604del, NM_001130912.1:c.604del, NM_006704.5:c.508del, NM_006704.4:c.508del, NM_006704.3:c.508del, NM_001320831.2:c.340del, NM_001320831.1:c.340del, XM_017020365.2:c.601del, XM_017020365.1:c.601del, XM_047430066.1:c.340del, XM_047430065.1:c.361del, NP_001124384.1:p.Ser202fs, NP_006695.1:p.Ser170fs, NP_001307760.1:p.Ser114fs, XP_016875854.1:p.Ser201fs, XP_047286022.1:p.Ser114fs, XP_047286021.1:p.Ser121fs

Select item 143593194616.

rs1435931946 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 13:52680048 (GRCh38)
13:53254183 (GRCh37)
Canonical SPDI:: NC_000013.11:52680047:G:C
Gene:: SUGT1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.52680048G>C, NC_000013.10:g.53254183G>C, NG_029521.2:g.32353G>C, NM_001130912.2:c.889G>C, NM_001130912.3:c.889G>C, NM_001130912.1:c.889G>C, NM_006704.5:c.793G>C, NM_006704.4:c.793G>C, NM_006704.3:c.793G>C, NM_001320831.2:c.625G>C, NM_001320831.1:c.625G>C, XM_017020365.2:c.886G>C, XM_017020365.1:c.886G>C, XM_047430066.1:c.625G>C, XM_047430065.1:c.646G>C, NP_001124384.1:p.Glu297Gln, NP_006695.1:p.Glu265Gln, NP_001307760.1:p.Glu209Gln, XP_016875854.1:p.Glu296Gln, XP_047286022.1:p.Glu209Gln, XP_047286021.1:p.Glu216Gln

Select item 143045114417.

rs1430451144 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:52658431 (GRCh38)
13:53232566 (GRCh37)
Canonical SPDI:: NC_000013.11:52658430:C:T
Gene:: SUGT1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000013.11:g.52658431C>T, NC_000013.10:g.53232566C>T, NG_029521.2:g.10736C>T, NM_001130912.2:c.220C>T, NM_001130912.3:c.220C>T, NM_001130912.1:c.220C>T, NM_006704.5:c.220C>T, NM_006704.4:c.220C>T, NM_006704.3:c.220C>T, NM_001320831.2:c.52C>T, NM_001320831.1:c.52C>T, XM_017020365.2:c.220C>T, XM_017020365.1:c.220C>T, XM_047430066.1:c.52C>T, XM_047430065.1:c.-24C>T, NP_001124384.1:p.Leu74Phe, NP_006695.1:p.Leu74Phe, NP_001307760.1:p.Leu18Phe, XP_016875854.1:p.Leu74Phe, XP_047286022.1:p.Leu18Phe

Select item 142617496218.

rs1426174962 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 13:52680140 (GRCh38)
13:53254275 (GRCh37)
Canonical SPDI:: NC_000013.11:52680139:C:A,NC_000013.11:52680139:C:T
Gene:: SUGT1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.52680140C>A, NC_000013.11:g.52680140C>T, NC_000013.10:g.53254275C>A, NC_000013.10:g.53254275C>T, NG_029521.2:g.32445C>A, NG_029521.2:g.32445C>T, NM_001130912.2:c.981C>A, NM_001130912.2:c.981C>T, NM_001130912.3:c.981C>A, NM_001130912.3:c.981C>T, NM_001130912.1:c.981C>A, NM_001130912.1:c.981C>T, NM_006704.5:c.885C>A, NM_006704.5:c.885C>T, NM_006704.4:c.885C>A, NM_006704.4:c.885C>T, NM_006704.3:c.885C>A, NM_006704.3:c.885C>T, NM_001320831.2:c.717C>A, NM_001320831.2:c.717C>T, NM_001320831.1:c.717C>A, NM_001320831.1:c.717C>T, XM_017020365.2:c.978C>A, XM_017020365.2:c.978C>T, XM_017020365.1:c.978C>A, XM_017020365.1:c.978C>T, XM_047430066.1:c.717C>A, XM_047430066.1:c.717C>T, XM_047430065.1:c.738C>A, XM_047430065.1:c.738C>T

Select item 141862546519.

rs1418625465 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 13:52676307 (GRCh38)
13:53250442 (GRCh37)
Canonical SPDI:: NC_000013.11:52676306:A:C
Gene:: SUGT1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.52676307A>C, NC_000013.10:g.53250442A>C, NG_029521.2:g.28612A>C, NM_001130912.2:c.801A>C, NM_001130912.3:c.801A>C, NM_001130912.1:c.801A>C, NM_006704.5:c.705A>C, NM_006704.4:c.705A>C, NM_006704.3:c.705A>C, NM_001320831.2:c.537A>C, NM_001320831.1:c.537A>C, XM_017020365.2:c.798A>C, XM_017020365.1:c.798A>C, XM_047430066.1:c.537A>C, XM_047430065.1:c.558A>C, NP_001124384.1:p.Lys267Asn, NP_006695.1:p.Lys235Asn, NP_001307760.1:p.Lys179Asn, XP_016875854.1:p.Lys266Asn, XP_047286022.1:p.Lys179Asn, XP_047286021.1:p.Lys186Asn

Select item 141697210620.

rs1416972106 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 13:52687827 (GRCh38)
13:53261962 (GRCh37)
Canonical SPDI:: NC_000013.11:52687826:A:C
Gene:: SUGT1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000013.11:g.52687827A>C, NC_000013.10:g.53261962A>C, NG_029521.2:g.40132A>C, NM_001130912.2:c.1090A>C, NM_001130912.3:c.1090A>C, NM_001130912.1:c.1090A>C, NM_006704.5:c.994A>C, NM_006704.4:c.994A>C, NM_006704.3:c.994A>C, NM_001320831.2:c.826A>C, NM_001320831.1:c.826A>C, XM_017020365.2:c.1087A>C, XM_017020365.1:c.1087A>C, XM_047430066.1:c.826A>C, XM_047430065.1:c.847A>C, NP_001124384.1:p.Lys364Gln, NP_006695.1:p.Lys332Gln, NP_001307760.1:p.Lys276Gln, XP_016875854.1:p.Lys363Gln, XP_047286022.1:p.Lys276Gln, XP_047286021.1:p.Lys283Gln

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