SNP Links for Protein (Select 4503363) - SNP

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Links from Protein

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Select item 14903404521.

rs1490340452 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:50940905 (GRCh38)
20:49557442 (GRCh37)
Canonical SPDI:: NC_000020.11:50940904:A:G
Gene:: DPM1 (Varview), ADNP-AS1 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.50940905A>G, NC_000020.10:g.49557442A>G, NG_008923.1:g.22619T>C, NM_003859.3:c.523T>C, NM_003859.2:c.523T>C, NM_003859.1:c.523T>C, NR_133648.2:n.554T>C, NR_133648.1:n.586T>C, NM_001317034.1:c.628T>C, NM_001317035.1:c.604T>C, XM_047440577.1:c.548T>C, XR_007067482.1:n.560T>C, XP_047296533.1:p.Leu183Pro

Select item 14885091102.

rs1488509110 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 20:50958407 (GRCh38)
20:49574944 (GRCh37)
Canonical SPDI:: NC_000020.11:50958406:G:A,NC_000020.11:50958406:G:T
Gene:: DPM1 (Varview), MOCS3 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0./0 (KOREAN)
A=0.000004/1 (GnomAD_exomes)
A=0.000248/4 (TOMMO)
HGVS:: NC_000020.11:g.50958407G>A, NC_000020.11:g.50958407G>T, NC_000020.10:g.49574944G>A, NC_000020.10:g.49574944G>T, NG_008923.1:g.5117C>T, NG_008923.1:g.5117C>A, NM_003859.3:c.117C>T, NM_003859.3:c.117C>A, NM_003859.2:c.117C>T, NM_003859.2:c.117C>A, NM_003859.1:c.117C>T, NM_003859.1:c.117C>A, NR_133648.2:n.126C>T, NR_133648.2:n.126C>A, NR_133648.1:n.158C>T, NR_133648.1:n.158C>A, NM_001317034.1:c.117C>T, NM_001317034.1:c.117C>A, NM_001317035.1:c.117C>T, NM_001317035.1:c.117C>A, NM_001317036.1:c.117C>T, NM_001317036.1:c.117C>A, XM_047440577.1:c.117C>T, XM_047440577.1:c.117C>A, XR_007067482.1:n.158C>T, XR_007067482.1:n.158C>A, NP_003850.1:p.Asn39Lys, NP_001303963.1:p.Asn39Lys, NP_001303964.1:p.Asn39Lys, NP_001303965.1:p.Asn39Lys, XP_047296533.1:p.Asn39Lys

Select item 14819861333.

rs1481986133 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 20:50935168 (GRCh38)
20:49551705 (GRCh37)
Canonical SPDI:: NC_000020.11:50935166:AGA:A
Gene:: DPM1 (Varview), ADNP-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.50935168_50935169del, NC_000020.10:g.49551705_49551706del, NG_034200.1:g.823_824del, NG_008923.1:g.28356_28357del, NM_003859.3:c.747_748del, NM_003859.2:c.747_748del, NM_003859.1:c.747_748del, NR_133648.2:n.778_779del, NR_133648.1:n.810_811del, NM_001317034.1:c.852_853del, NM_001317035.1:c.828_829del, NM_001317036.1:c.678_679del, NP_003850.1:p.Leu250fs, NP_001303963.1:p.Leu285fs, NP_001303964.1:p.Leu277fs, NP_001303965.1:p.Leu227fs

Select item 14712698254.

rs1471269825 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 20:50940873 (GRCh38)
20:49557410 (GRCh37)
Canonical SPDI:: NC_000020.11:50940872:T:G
Gene:: DPM1 (Varview), ADNP-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,3_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.50940873T>G, NC_000020.10:g.49557410T>G, NG_008923.1:g.22651A>C, NM_003859.3:c.555A>C, NM_003859.2:c.555A>C, NM_003859.1:c.555A>C, NR_133648.2:n.586A>C, NR_133648.1:n.618A>C, NM_001317034.1:c.660A>C, NM_001317035.1:c.636A>C, XM_047440577.1:c.*10A>C, XR_007067482.1:n.592A>C

Select item 14707812315.

rs1470781231 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 20:50942048 (GRCh38)
20:49558585 (GRCh37)
Canonical SPDI:: NC_000020.11:50942047:C:A,NC_000020.11:50942047:C:T
Gene:: DPM1 (Varview), ADNP-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000020.11:g.50942048C>A, NC_000020.11:g.50942048C>T, NC_000020.10:g.49558585C>A, NC_000020.10:g.49558585C>T, NG_008923.1:g.21476G>T, NG_008923.1:g.21476G>A, NM_003859.3:c.477G>T, NM_003859.3:c.477G>A, NM_003859.2:c.477G>T, NM_003859.2:c.477G>A, NM_003859.1:c.477G>T, NM_003859.1:c.477G>A, NR_133648.2:n.486G>T, NR_133648.2:n.486G>A, NR_133648.1:n.518G>T, NR_133648.1:n.518G>A, NM_001317034.1:c.477G>T, NM_001317034.1:c.477G>A, NM_001317035.1:c.477G>T, NM_001317035.1:c.477G>A, NM_001317036.1:c.477G>T, NM_001317036.1:c.477G>A, XM_047440577.1:c.477G>T, XM_047440577.1:c.477G>A, XR_007067482.1:n.492G>T, XR_007067482.1:n.492G>A, NP_003850.1:p.Leu159Phe, NP_001303963.1:p.Leu159Phe, NP_001303964.1:p.Leu159Phe, NP_001303965.1:p.Leu159Phe, XP_047296533.1:p.Leu159Phe

Select item 14649998726.

rs1464999872 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:50958429 (GRCh38)
20:49574966 (GRCh37)
Canonical SPDI:: NC_000020.11:50958428:G:C
Gene:: DPM1 (Varview), MOCS3 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000026/7 (TOPMED)
HGVS:: NC_000020.11:g.50958429G>C, NC_000020.10:g.49574966G>C, NG_008923.1:g.5095C>G, NM_003859.3:c.95C>G, NM_003859.2:c.95C>G, NM_003859.1:c.95C>G, NR_133648.2:n.104C>G, NR_133648.1:n.136C>G, NM_001317034.1:c.95C>G, NM_001317035.1:c.95C>G, NM_001317036.1:c.95C>G, XM_047440577.1:c.95C>G, XR_007067482.1:n.136C>G, NP_003850.1:p.Pro32Arg, NP_001303963.1:p.Pro32Arg, NP_001303964.1:p.Pro32Arg, NP_001303965.1:p.Pro32Arg, XP_047296533.1:p.Pro32Arg

Select item 14535157047.

rs1453515704 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 20:50936236 (GRCh38)
20:49552773 (GRCh37)
Canonical SPDI:: NC_000020.11:50936235:T:G
Gene:: DPM1 (Varview), ADNP-AS1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.50936236T>G, NC_000020.10:g.49552773T>G, NG_008923.1:g.27288A>C, NM_003859.3:c.590A>C, NM_003859.2:c.590A>C, NM_003859.1:c.590A>C, NR_133648.2:n.621A>C, NR_133648.1:n.653A>C, NM_001317034.1:c.695A>C, NM_001317035.1:c.671A>C, NM_001317036.1:c.521A>C, NP_003850.1:p.Lys197Thr, NP_001303963.1:p.Lys232Thr, NP_001303964.1:p.Lys224Thr, NP_001303965.1:p.Lys174Thr

Select item 14528290208.

rs1452829020 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 20:50942046 (GRCh38)
20:49558583 (GRCh37)
Canonical SPDI:: NC_000020.11:50942045:T:A
Gene:: DPM1 (Varview), ADNP-AS1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.50942046T>A, NC_000020.10:g.49558583T>A, NG_008923.1:g.21478A>T, NM_003859.3:c.479A>T, NM_003859.2:c.479A>T, NM_003859.1:c.479A>T, NR_133648.2:n.488A>T, NR_133648.1:n.520A>T, NM_001317034.1:c.479A>T, NM_001317035.1:c.479A>T, NM_001317036.1:c.479A>T, XM_047440577.1:c.479A>T, XR_007067482.1:n.494A>T, NP_003850.1:p.Lys160Ile, NP_001303963.1:p.Lys160Ile, NP_001303964.1:p.Lys160Ile, NP_001303965.1:p.Lys160Ile, XP_047296533.1:p.Lys160Ile

Select item 14514941979.

rs1451494197 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:50945854 (GRCh38)
20:49562391 (GRCh37)
Canonical SPDI:: NC_000020.11:50945853:G:A
Gene:: DPM1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_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_000020.11:g.50945854G>A, NC_000020.10:g.49562391G>A, NG_008923.1:g.17670C>T, NM_003859.3:c.365C>T, NM_003859.2:c.365C>T, NM_003859.1:c.365C>T, NR_133648.2:n.374C>T, NR_133648.1:n.406C>T, NM_001317034.1:c.365C>T, NM_001317035.1:c.365C>T, NM_001317036.1:c.365C>T, XM_047440577.1:c.365C>T, XR_007067482.1:n.406C>T, NP_003850.1:p.Ser122Leu, NP_001303963.1:p.Ser122Leu, NP_001303964.1:p.Ser122Leu, NP_001303965.1:p.Ser122Leu, XP_047296533.1:p.Ser122Leu

Select item 144765937910.

rs1447659379 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:50935185 (GRCh38)
20:49551722 (GRCh37)
Canonical SPDI:: NC_000020.11:50935184:T:C
Gene:: DPM1 (Varview), ADNP-AS1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.50935185T>C, NC_000020.10:g.49551722T>C, NG_034200.1:g.806A>G, NG_008923.1:g.28339A>G, NM_003859.3:c.730A>G, NM_003859.2:c.730A>G, NM_003859.1:c.730A>G, NR_133648.2:n.761A>G, NR_133648.1:n.793A>G, NM_001317034.1:c.835A>G, NM_001317035.1:c.811A>G, NM_001317036.1:c.661A>G, NP_003850.1:p.Asn244Asp, NP_001303963.1:p.Asn279Asp, NP_001303964.1:p.Asn271Asp, NP_001303965.1:p.Asn221Asp

Select item 143985698511.

rs1439856985 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:50936185 (GRCh38)
20:49552722 (GRCh37)
Canonical SPDI:: NC_000020.11:50936184:A:G
Gene:: DPM1 (Varview), ADNP-AS1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.50936185A>G, NC_000020.10:g.49552722A>G, NG_008923.1:g.27339T>C, NM_003859.3:c.641T>C, NM_003859.2:c.641T>C, NM_003859.1:c.641T>C, NR_133648.2:n.672T>C, NR_133648.1:n.704T>C, NM_001317034.1:c.746T>C, NM_001317035.1:c.722T>C, NM_001317036.1:c.572T>C, NP_003850.1:p.Ile214Thr, NP_001303963.1:p.Ile249Thr, NP_001303964.1:p.Ile241Thr, NP_001303965.1:p.Ile191Thr

Select item 143585837312.

rs1435858373 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 20:50945878 (GRCh38)
20:49562415 (GRCh37)
Canonical SPDI:: NC_000020.11:50945877:A:C
Gene:: DPM1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.50945878A>C, NC_000020.10:g.49562415A>C, NG_008923.1:g.17646T>G, NM_003859.3:c.341T>G, NM_003859.2:c.341T>G, NM_003859.1:c.341T>G, NR_133648.2:n.350T>G, NR_133648.1:n.382T>G, NM_001317034.1:c.341T>G, NM_001317035.1:c.341T>G, NM_001317036.1:c.341T>G, XM_047440577.1:c.341T>G, XR_007067482.1:n.382T>G, NP_003850.1:p.Ile114Ser, NP_001303963.1:p.Ile114Ser, NP_001303964.1:p.Ile114Ser, NP_001303965.1:p.Ile114Ser, XP_047296533.1:p.Ile114Ser

Select item 143071841813.

rs1430718418 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 20:50958368 (GRCh38)
20:49574905 (GRCh37)
Canonical SPDI:: NC_000020.11:50958367:GG:G
Gene:: DPM1 (Varview), MOCS3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.50958369del, NC_000020.10:g.49574906del, NG_008923.1:g.5156del, NM_003859.3:c.156del, NM_003859.2:c.156del, NM_003859.1:c.156del, NR_133648.2:n.165del, NR_133648.1:n.197del, NM_001317034.1:c.156del, NM_001317035.1:c.156del, NM_001317036.1:c.156del, XM_047440577.1:c.156del, XR_007067482.1:n.197del, NP_003850.1:p.Glu53fs, NP_001303963.1:p.Glu53fs, NP_001303964.1:p.Glu53fs, NP_001303965.1:p.Glu53fs, XP_047296533.1:p.Glu53fs

Select item 142690697314.

rs1426906973 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>- [Show Flanks]
Chromosome:: 20:50942040 (GRCh38)
20:49558577 (GRCh37)
Canonical SPDI:: NC_000020.11:50942037:TTTTT:TT
Gene:: DPM1 (Varview), ADNP-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,intron_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.50942040_50942042del, NC_000020.10:g.49558577_49558579del, NG_008923.1:g.21484_21486del, NM_003859.3:c.485_487del, NM_003859.2:c.485_487del, NM_003859.1:c.485_487del, NR_133648.2:n.494_496del, NR_133648.1:n.526_528del, NM_001317034.1:c.485_487del, NM_001317035.1:c.485_487del, NM_001317036.1:c.485_487del, XM_047440577.1:c.485_487del, XR_007067482.1:n.500_502del, NP_003850.1:p.Lys162del, NP_001303963.1:p.Lys162del, NP_001303964.1:p.Lys162del, NP_001303965.1:p.Lys162del, XP_047296533.1:p.Lys162del

Select item 142254999215.

rs1422549992 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:50955198 (GRCh38)
20:49571735 (GRCh37)
Canonical SPDI:: NC_000020.11:50955197:C:G
Gene:: DPM1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.50955198C>G, NC_000020.10:g.49571735C>G, NG_008923.1:g.8326G>C, NM_003859.3:c.249G>C, NM_003859.2:c.249G>C, NM_003859.1:c.249G>C, NR_133648.2:n.258G>C, NR_133648.1:n.290G>C, NM_001317034.1:c.249G>C, NM_001317035.1:c.249G>C, NM_001317036.1:c.249G>C, XM_047440577.1:c.249G>C, XR_007067482.1:n.290G>C

Select item 141444765316.

rs1414447653 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:50936151 (GRCh38)
20:49552688 (GRCh37)
Canonical SPDI:: NC_000020.11:50936150:G:A,NC_000020.11:50936150:G:C
Gene:: DPM1 (Varview), ADNP-AS1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.50936151G>A, NC_000020.11:g.50936151G>C, NC_000020.10:g.49552688G>A, NC_000020.10:g.49552688G>C, NG_008923.1:g.27373C>T, NG_008923.1:g.27373C>G, NM_003859.3:c.675C>T, NM_003859.3:c.675C>G, NM_003859.2:c.675C>T, NM_003859.2:c.675C>G, NM_003859.1:c.675C>T, NM_003859.1:c.675C>G, NR_133648.2:n.706C>T, NR_133648.2:n.706C>G, NR_133648.1:n.738C>T, NR_133648.1:n.738C>G, NM_001317034.1:c.780C>T, NM_001317034.1:c.780C>G, NM_001317035.1:c.756C>T, NM_001317035.1:c.756C>G, NM_001317036.1:c.606C>T, NM_001317036.1:c.606C>G

Select item 141103642417.

rs1411036424 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:50935217 (GRCh38)
20:49551754 (GRCh37)
Canonical SPDI:: NC_000020.11:50935216:T:C
Gene:: DPM1 (Varview), ADNP-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.50935217T>C, NC_000020.10:g.49551754T>C, NG_034200.1:g.774A>G, NG_008923.1:g.28307A>G, NM_003859.3:c.698A>G, NM_003859.2:c.698A>G, NM_003859.1:c.698A>G, NR_133648.2:n.729A>G, NR_133648.1:n.761A>G, NM_001317034.1:c.803A>G, NM_001317035.1:c.779A>G, NM_001317036.1:c.629A>G, NP_003850.1:p.Asp233Gly, NP_001303963.1:p.Asp268Gly, NP_001303964.1:p.Asp260Gly, NP_001303965.1:p.Asp210Gly

Select item 140444517718.

rs1404445177 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:50948632 (GRCh38)
20:49565169 (GRCh37)
Canonical SPDI:: NC_000020.11:50948631:G:C
Gene:: DPM1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.50948632G>C, NC_000020.10:g.49565169G>C, NG_008923.1:g.14892C>G, NM_003859.3:c.292C>G, NM_003859.2:c.292C>G, NM_003859.1:c.292C>G, NR_133648.2:n.301C>G, NR_133648.1:n.333C>G, NM_001317034.1:c.292C>G, NM_001317035.1:c.292C>G, NM_001317036.1:c.292C>G, XM_047440577.1:c.292C>G, XR_007067482.1:n.333C>G, NP_003850.1:p.Leu98Val, NP_001303963.1:p.Leu98Val, NP_001303964.1:p.Leu98Val, NP_001303965.1:p.Leu98Val, XP_047296533.1:p.Leu98Val

Select item 140439070019.

rs1404390700 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:50955265 (GRCh38)
20:49571802 (GRCh37)
Canonical SPDI:: NC_000020.11:50955264:A:G
Gene:: DPM1 (Varview)
Functional Consequence:: non_coding_transcript_variant,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_000020.11:g.50955265A>G, NC_000020.10:g.49571802A>G, NG_008923.1:g.8259T>C, NM_003859.3:c.182T>C, NM_003859.2:c.182T>C, NM_003859.1:c.182T>C, NR_133648.2:n.191T>C, NR_133648.1:n.223T>C, NM_001317034.1:c.182T>C, NM_001317035.1:c.182T>C, NM_001317036.1:c.182T>C, XM_047440577.1:c.182T>C, XR_007067482.1:n.223T>C, NP_003850.1:p.Ile61Thr, NP_001303963.1:p.Ile61Thr, NP_001303964.1:p.Ile61Thr, NP_001303965.1:p.Ile61Thr, XP_047296533.1:p.Ile61Thr

Select item 139934681020.

rs1399346810 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:50958436 (GRCh38)
20:49574973 (GRCh37)
Canonical SPDI:: NC_000020.11:50958435:G:A
Gene:: DPM1 (Varview), MOCS3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000020.11:g.50958436G>A, NC_000020.10:g.49574973G>A, NG_008923.1:g.5088C>T, NM_003859.3:c.88C>T, NM_003859.2:c.88C>T, NM_003859.1:c.88C>T, NR_133648.2:n.97C>T, NR_133648.1:n.129C>T, NM_001317034.1:c.88C>T, NM_001317035.1:c.88C>T, NM_001317036.1:c.88C>T, XM_047440577.1:c.88C>T, XR_007067482.1:n.129C>T, NP_003850.1:p.Leu30Phe, NP_001303963.1:p.Leu30Phe, NP_001303964.1:p.Leu30Phe, NP_001303965.1:p.Leu30Phe, XP_047296533.1:p.Leu30Phe

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