SNP Links for Nucleotide (Select 953514546) - SNP

Links from Nucleotide

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Select item 14870526861.

rs1487052686 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:70293154 (GRCh38)
2:70520286 (GRCh37)
Canonical SPDI:: NC_000002.12:70293153:A:C
Gene:: SNRPG (Varview), LOC124906023 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.70293154A>C, NC_000002.11:g.70520286A>C, NM_001317168.1:c.-484T>G, NM_001317167.1:c.7T>G, NP_001304096.1:p.Leu3Val

Select item 14847899792.

rs1484789979 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:70288164 (GRCh38)
2:70515296 (GRCh37)
Canonical SPDI:: NC_000002.12:70288163:T:C
Gene:: SNRPG (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.70288164T>C, NC_000002.11:g.70515296T>C, NM_003096.4:c.84A>G, NM_003096.3:c.84A>G, NM_003096.2:c.84A>G, NM_001317165.2:c.84A>G, NM_001317165.1:c.84A>G, NM_001317169.2:c.48A>G, NM_001317169.1:c.48A>G, NM_001317166.2:c.84A>G, NM_001317166.1:c.84A>G, NM_001317171.2:c.30A>G, NM_001317171.1:c.30A>G, XM_017004774.2:c.84A>G, XM_017004774.1:c.84A>G, NM_001317168.1:c.48A>G, NM_001317167.1:c.60A>G

Select item 14741108533.

rs1474110853 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:70288124 (GRCh38)
2:70515256 (GRCh37)
Canonical SPDI:: NC_000002.12:70288123:T:C
Gene:: SNRPG (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.70288124T>C, NC_000002.11:g.70515256T>C, NM_003096.4:c.124A>G, NM_003096.3:c.124A>G, NM_003096.2:c.124A>G, NM_001317165.2:c.124A>G, NM_001317165.1:c.124A>G, NM_001317169.2:c.88A>G, NM_001317169.1:c.88A>G, NM_001317166.2:c.124A>G, NM_001317166.1:c.124A>G, NM_001317171.2:c.70A>G, NM_001317171.1:c.70A>G, XM_017004774.2:c.124A>G, XM_017004774.1:c.124A>G, NM_001317168.1:c.88A>G, NM_001317167.1:c.100A>G, NP_003087.1:p.Ile42Val, NP_001304094.1:p.Ile42Val, NP_001304098.1:p.Ile30Val, NP_001304095.1:p.Ile42Val, NP_001304100.1:p.Ile24Val, XP_016860263.1:p.Ile42Val, NP_001304097.1:p.Ile30Val, NP_001304096.1:p.Ile34Val

Select item 14717811094.

rs1471781109 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTC [Show Flanks]
Chromosome:: 2:70281537 (GRCh38)
2:70508670 (GRCh37)
Canonical SPDI:: NC_000002.12:70281537:GTC:GTCGTC
Gene:: SNRPG (Varview), PCYOX1 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTCGTC=0./0 (ALFA)
GTC=0.000007/1 (GnomAD)
GTC=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.70281538_70281540dup, NC_000002.11:g.70508670_70508672dup, NM_003096.4:c.*94_*96dup, NM_003096.3:c.*94_*96dup, NM_003096.2:c.*94_*96dup, NM_001317165.2:c.*141_*143dup, NM_001317165.1:c.*141_*143dup, NM_001317169.2:c.*94_*96dup, NM_001317169.1:c.*94_*96dup, NM_001317166.2:c.*94_*96dup, NM_001317166.1:c.*94_*96dup, NM_001317171.2:c.*94_*96dup, NM_001317171.1:c.*94_*96dup, NM_001317168.1:c.*94_*96dup, NM_001317167.1:c.*94_*96dup

Select item 14717213765.

rs1471721376 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:70281677 (GRCh38)
2:70508809 (GRCh37)
Canonical SPDI:: NC_000002.12:70281676:C:T
Gene:: SNRPG (Varview), PCYOX1 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant
HGVS:: NC_000002.12:g.70281677C>T, NC_000002.11:g.70508809C>T, NM_003096.4:c.188G>A, NM_003096.3:c.188G>A, NM_003096.2:c.188G>A, NM_001317165.2:c.*4G>A, NM_001317165.1:c.*4G>A, NM_001317169.2:c.152G>A, NM_001317169.1:c.152G>A, NM_001317166.2:c.185G>A, NM_001317166.1:c.185G>A, NM_001317171.2:c.134G>A, NM_001317171.1:c.134G>A, NM_001317168.1:c.152G>A, NM_001317167.1:c.164G>A, NP_003087.1:p.Arg63Gln, NP_001304098.1:p.Arg51Gln, NP_001304095.1:p.Arg62Gln, NP_001304100.1:p.Arg45Gln, NP_001304097.1:p.Arg51Gln, NP_001304096.1:p.Arg55Gln

Select item 14579553476.

rs1457955347 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:70288100 (GRCh38)
2:70515232 (GRCh37)
Canonical SPDI:: NC_000002.12:70288099:T:C,NC_000002.12:70288099:T:G
Gene:: SNRPG (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.70288100T>C, NC_000002.12:g.70288100T>G, NC_000002.11:g.70515232T>C, NC_000002.11:g.70515232T>G, NM_003096.4:c.148A>G, NM_003096.4:c.148A>C, NM_003096.3:c.148A>G, NM_003096.3:c.148A>C, NM_003096.2:c.148A>G, NM_003096.2:c.148A>C, NM_001317165.2:c.148A>G, NM_001317165.2:c.148A>C, NM_001317165.1:c.148A>G, NM_001317165.1:c.148A>C, NM_001317169.2:c.112A>G, NM_001317169.2:c.112A>C, NM_001317169.1:c.112A>G, NM_001317169.1:c.112A>C, NM_001317166.2:c.148A>G, NM_001317166.2:c.148A>C, NM_001317166.1:c.148A>G, NM_001317166.1:c.148A>C, NM_001317171.2:c.94A>G, NM_001317171.2:c.94A>C, NM_001317171.1:c.94A>G, NM_001317171.1:c.94A>C, XM_017004774.2:c.148A>G, XM_017004774.2:c.148A>C, XM_017004774.1:c.148A>G, XM_017004774.1:c.148A>C, NM_001317168.1:c.112A>G, NM_001317168.1:c.112A>C, NM_001317167.1:c.124A>G, NM_001317167.1:c.124A>C, NP_003087.1:p.Thr50Ala, NP_003087.1:p.Thr50Pro, NP_001304094.1:p.Thr50Ala, NP_001304094.1:p.Thr50Pro, NP_001304098.1:p.Thr38Ala, NP_001304098.1:p.Thr38Pro, NP_001304095.1:p.Thr50Ala, NP_001304095.1:p.Thr50Pro, NP_001304100.1:p.Thr32Ala, NP_001304100.1:p.Thr32Pro, XP_016860263.1:p.Thr50Ala, XP_016860263.1:p.Thr50Pro, NP_001304097.1:p.Thr38Ala, NP_001304097.1:p.Thr38Pro, NP_001304096.1:p.Thr42Ala, NP_001304096.1:p.Thr42Pro

Select item 14573754527.

rs1457375452 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:70281452 (GRCh38)
2:70508584 (GRCh37)
Canonical SPDI:: NC_000002.12:70281451:A:C
Gene:: SNRPG (Varview), PCYOX1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.70281452A>C, NC_000002.11:g.70508584A>C, NM_003096.4:c.*182T>G, NM_003096.3:c.*182T>G, NM_003096.2:c.*182T>G, NM_001317165.2:c.*229T>G, NM_001317165.1:c.*229T>G, NM_001317169.2:c.*182T>G, NM_001317169.1:c.*182T>G, NM_001317166.2:c.*182T>G, NM_001317166.1:c.*182T>G, NM_001317171.2:c.*182T>G, NM_001317171.1:c.*182T>G, NM_001317168.1:c.*182T>G, NM_001317167.1:c.*182T>G

Select item 14560024988.

rs1456002498 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:70281368 (GRCh38)
2:70508500 (GRCh37)
Canonical SPDI:: NC_000002.12:70281367:C:T
Gene:: SNRPG (Varview), PCYOX1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.70281368C>T, NC_000002.11:g.70508500C>T, NM_003096.4:c.*266G>A, NM_003096.3:c.*266G>A, NM_001317165.2:c.*313G>A, NM_001317165.1:c.*313G>A, NM_001317169.2:c.*266G>A, NM_001317169.1:c.*266G>A, NM_001317166.2:c.*266G>A, NM_001317166.1:c.*266G>A, NM_001317171.2:c.*266G>A, NM_001317171.1:c.*266G>A, NM_001317168.1:c.*266G>A, NM_001317167.1:c.*266G>A

Select item 14496217359.

rs1449621735 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 2:70281468 (GRCh38)
2:70508600 (GRCh37)
Canonical SPDI:: NC_000002.12:70281467:A:C,NC_000002.12:70281467:A:G
Gene:: SNRPG (Varview), PCYOX1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.70281468A>C, NC_000002.12:g.70281468A>G, NC_000002.11:g.70508600A>C, NC_000002.11:g.70508600A>G, NM_003096.4:c.*166T>G, NM_003096.4:c.*166T>C, NM_003096.3:c.*166T>G, NM_003096.3:c.*166T>C, NM_003096.2:c.*166T>G, NM_003096.2:c.*166T>C, NM_001317165.2:c.*213T>G, NM_001317165.2:c.*213T>C, NM_001317165.1:c.*213T>G, NM_001317165.1:c.*213T>C, NM_001317169.2:c.*166T>G, NM_001317169.2:c.*166T>C, NM_001317169.1:c.*166T>G, NM_001317169.1:c.*166T>C, NM_001317166.2:c.*166T>G, NM_001317166.2:c.*166T>C, NM_001317166.1:c.*166T>G, NM_001317166.1:c.*166T>C, NM_001317171.2:c.*166T>G, NM_001317171.2:c.*166T>C, NM_001317171.1:c.*166T>G, NM_001317171.1:c.*166T>C, NM_001317168.1:c.*166T>G, NM_001317168.1:c.*166T>C, NM_001317167.1:c.*166T>G, NM_001317167.1:c.*166T>C

Select item 144553863610.

rs1445538636 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAAT [Show Flanks]
Chromosome:: 2:70281438 (GRCh38)
2:70508571 (GRCh37)
Canonical SPDI:: NC_000002.12:70281438:AAAT:AAATAAAT
Gene:: SNRPG (Varview), PCYOX1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAATAAAT=0./0 (ALFA)
AAAT=0.000004/1 (TOPMED)
AAAT=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.70281439_70281442dup, NC_000002.11:g.70508571_70508574dup, NM_003096.4:c.*192_*195dup, NM_003096.3:c.*192_*195dup, NM_003096.2:c.*192_*195dup, NM_001317165.2:c.*239_*242dup, NM_001317165.1:c.*239_*242dup, NM_001317169.2:c.*192_*195dup, NM_001317169.1:c.*192_*195dup, NM_001317166.2:c.*192_*195dup, NM_001317166.1:c.*192_*195dup, NM_001317171.2:c.*192_*195dup, NM_001317171.1:c.*192_*195dup, NM_001317168.1:c.*192_*195dup, NM_001317167.1:c.*192_*195dup

Select item 144542008911.

rs1445420089 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:70281426 (GRCh38)
2:70508558 (GRCh37)
Canonical SPDI:: NC_000002.12:70281425:A:G
Gene:: SNRPG (Varview), PCYOX1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_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_000002.12:g.70281426A>G, NC_000002.11:g.70508558A>G, NM_003096.4:c.*208T>C, NM_003096.3:c.*208T>C, NM_003096.2:c.*208T>C, NM_001317165.2:c.*255T>C, NM_001317165.1:c.*255T>C, NM_001317169.2:c.*208T>C, NM_001317169.1:c.*208T>C, NM_001317166.2:c.*208T>C, NM_001317166.1:c.*208T>C, NM_001317171.2:c.*208T>C, NM_001317171.1:c.*208T>C, NM_001317168.1:c.*208T>C, NM_001317167.1:c.*208T>C

Select item 144504499712.

rs1445044997 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:70281525 (GRCh38)
2:70508657 (GRCh37)
Canonical SPDI:: NC_000002.12:70281524:T:G
Gene:: SNRPG (Varview), PCYOX1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.70281525T>G, NC_000002.11:g.70508657T>G, NM_003096.4:c.*109A>C, NM_003096.3:c.*109A>C, NM_003096.2:c.*109A>C, NM_001317165.2:c.*156A>C, NM_001317165.1:c.*156A>C, NM_001317169.2:c.*109A>C, NM_001317169.1:c.*109A>C, NM_001317166.2:c.*109A>C, NM_001317166.1:c.*109A>C, NM_001317171.2:c.*109A>C, NM_001317171.1:c.*109A>C, NM_001317168.1:c.*109A>C, NM_001317167.1:c.*109A>C

Select item 144088449313.

rs1440884493 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:70293215 (GRCh38)
2:70520347 (GRCh37)
Canonical SPDI:: NC_000002.12:70293214:A:C
Gene:: SNRPG (Varview), LOC124906023 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000026/7 (TOPMED)
C=0.000029/4 (GnomAD)
C=0.005459/10 (Korea1K)
HGVS:: NC_000002.12:g.70293215A>C, NC_000002.11:g.70520347A>C, NM_001317168.1:c.-545T>G, NM_001317167.1:c.-55T>G

Select item 143729297614.

rs1437292976 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:70293165 (GRCh38)
2:70520297 (GRCh37)
Canonical SPDI:: NC_000002.12:70293164:T:G
Gene:: SNRPG (Varview), LOC124906023 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_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_000002.12:g.70293165T>G, NC_000002.11:g.70520297T>G, NM_001317168.1:c.-495A>C, NM_001317167.1:c.-5A>C

Select item 141187772015.

rs1411877720 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTA>- [Show Flanks]
Chromosome:: 2:70281527 (GRCh38)
2:70508659 (GRCh37)
Canonical SPDI:: NC_000002.12:70281522:TTTATTTA:TTTA
Gene:: SNRPG (Varview), PCYOX1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTATTTA=0./0 (ALFA)
-=0.000015/4 (TOPMED)
-=0.000035/1 (TOMMO)
-=0.000128/18 (GnomAD)
HGVS:: NC_000002.12:g.70281523TTTA[1], NC_000002.11:g.70508655TTTA[1], NM_003096.4:c.*104TAAA[1], NM_003096.3:c.*104TAAA[1], NM_003096.2:c.*104TAAA[1], NM_001317165.2:c.*151TAAA[1], NM_001317165.1:c.*151TAAA[1], NM_001317169.2:c.*104TAAA[1], NM_001317169.1:c.*104TAAA[1], NM_001317166.2:c.*104TAAA[1], NM_001317166.1:c.*104TAAA[1], NM_001317171.2:c.*104TAAA[1], NM_001317171.1:c.*104TAAA[1], NM_001317168.1:c.*104TAAA[1], NM_001317167.1:c.*104TAAA[1]

Select item 140885401016.

rs1408854010 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:70281567 (GRCh38)
2:70508699 (GRCh37)
Canonical SPDI:: NC_000002.12:70281566:T:G
Gene:: SNRPG (Varview), PCYOX1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.70281567T>G, NC_000002.11:g.70508699T>G, NM_003096.4:c.*67A>C, NM_003096.3:c.*67A>C, NM_003096.2:c.*67A>C, NM_001317165.2:c.*114A>C, NM_001317165.1:c.*114A>C, NM_001317169.2:c.*67A>C, NM_001317169.1:c.*67A>C, NM_001317166.2:c.*67A>C, NM_001317166.1:c.*67A>C, NM_001317171.2:c.*67A>C, NM_001317171.1:c.*67A>C, NM_001317168.1:c.*67A>C, NM_001317167.1:c.*67A>C

Select item 138715348717.

rs1387153487 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:70281448 (GRCh38)
2:70508580 (GRCh37)
Canonical SPDI:: NC_000002.12:70281447:T:G
Gene:: SNRPG (Varview), PCYOX1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.70281448T>G, NC_000002.11:g.70508580T>G, NM_003096.4:c.*186A>C, NM_003096.3:c.*186A>C, NM_003096.2:c.*186A>C, NM_001317165.2:c.*233A>C, NM_001317165.1:c.*233A>C, NM_001317169.2:c.*186A>C, NM_001317169.1:c.*186A>C, NM_001317166.2:c.*186A>C, NM_001317166.1:c.*186A>C, NM_001317171.2:c.*186A>C, NM_001317171.1:c.*186A>C, NM_001317168.1:c.*186A>C, NM_001317167.1:c.*186A>C

Select item 138639629018.

rs1386396290 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 2:70293158 (GRCh38)
2:70520290 (GRCh37)
Canonical SPDI:: NC_000002.12:70293157:C:
Gene:: SNRPG (Varview), LOC124906023 (Varview)
Functional Consequence:: intron_variant,initiator_codon_variant,2KB_upstream_variant,frameshift_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: -=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.70293158del, NC_000002.11:g.70520290del, NM_001317168.1:c.-488del, NM_001317167.1:c.3del, NP_001304096.1:p.Met1fs

Select item 138343319119.

rs1383433191 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:70293194 (GRCh38)
2:70520326 (GRCh37)
Canonical SPDI:: NC_000002.12:70293193:G:A,NC_000002.12:70293193:G:T
Gene:: SNRPG (Varview), LOC124906023 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,5_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
T=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.70293194G>A, NC_000002.12:g.70293194G>T, NC_000002.11:g.70520326G>A, NC_000002.11:g.70520326G>T, NM_001317168.1:c.-524C>T, NM_001317168.1:c.-524C>A, NM_001317167.1:c.-34C>T, NM_001317167.1:c.-34C>A

Select item 138210573620.

rs1382105736 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:70288120 (GRCh38)
2:70515252 (GRCh37)
Canonical SPDI:: NC_000002.12:70288119:T:C,NC_000002.12:70288119:T:G
Gene:: SNRPG (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.70288120T>C, NC_000002.12:g.70288120T>G, NC_000002.11:g.70515252T>C, NC_000002.11:g.70515252T>G, NM_003096.4:c.128A>G, NM_003096.4:c.128A>C, NM_003096.3:c.128A>G, NM_003096.3:c.128A>C, NM_003096.2:c.128A>G, NM_003096.2:c.128A>C, NM_001317165.2:c.128A>G, NM_001317165.2:c.128A>C, NM_001317165.1:c.128A>G, NM_001317165.1:c.128A>C, NM_001317169.2:c.92A>G, NM_001317169.2:c.92A>C, NM_001317169.1:c.92A>G, NM_001317169.1:c.92A>C, NM_001317166.2:c.128A>G, NM_001317166.2:c.128A>C, NM_001317166.1:c.128A>G, NM_001317166.1:c.128A>C, NM_001317171.2:c.74A>G, NM_001317171.2:c.74A>C, NM_001317171.1:c.74A>G, NM_001317171.1:c.74A>C, XM_017004774.2:c.128A>G, XM_017004774.2:c.128A>C, XM_017004774.1:c.128A>G, XM_017004774.1:c.128A>C, NM_001317168.1:c.92A>G, NM_001317168.1:c.92A>C, NM_001317167.1:c.104A>G, NM_001317167.1:c.104A>C, NP_003087.1:p.Asp43Gly, NP_003087.1:p.Asp43Ala, NP_001304094.1:p.Asp43Gly, NP_001304094.1:p.Asp43Ala, NP_001304098.1:p.Asp31Gly, NP_001304098.1:p.Asp31Ala, NP_001304095.1:p.Asp43Gly, NP_001304095.1:p.Asp43Ala, NP_001304100.1:p.Asp25Gly, NP_001304100.1:p.Asp25Ala, XP_016860263.1:p.Asp43Gly, XP_016860263.1:p.Asp43Ala, NP_001304097.1:p.Asp31Gly, NP_001304097.1:p.Asp31Ala, NP_001304096.1:p.Asp35Gly, NP_001304096.1:p.Asp35Ala

dbSNP

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