SNP Links for Protein (Select 5454002) - SNP

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Links from Protein

Items: 1 to 20 of 226

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Select item 14825404031.

rs1482540403 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:43226072 (GRCh38)
6:43193810 (GRCh37)
Canonical SPDI:: NC_000006.12:43226071:T:G
Gene:: DNPH1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.43226072T>G, NC_000006.11:g.43193810T>G, NM_006443.3:c.337A>C, NM_006443.2:c.337A>C, NM_199184.2:c.337A>C, NM_199184.1:c.337A>C, NP_006434.1:p.Lys113Gln, NP_954653.1:p.Lys113Gln

Select item 14798462412.

rs1479846241 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:43229414 (GRCh38)
6:43197152 (GRCh37)
Canonical SPDI:: NC_000006.12:43229413:G:A
Gene:: DNPH1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000006.12:g.43229414G>A, NC_000006.11:g.43197152G>A, NM_006443.3:c.43C>T, NM_006443.2:c.43C>T, NM_199184.2:c.43C>T, NM_199184.1:c.43C>T, NP_006434.1:p.Arg15Cys, NP_954653.1:p.Arg15Cys

Select item 14740036083.

rs1474003608 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:43229356 (GRCh38)
6:43197094 (GRCh37)
Canonical SPDI:: NC_000006.12:43229355:T:C
Gene:: DNPH1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000006.12:g.43229356T>C, NC_000006.11:g.43197094T>C, NM_006443.3:c.101A>G, NM_006443.2:c.101A>G, NM_199184.2:c.101A>G, NM_199184.1:c.101A>G, NP_006434.1:p.Glu34Gly, NP_954653.1:p.Glu34Gly

Select item 14635556984.

rs1463555698 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:43225750 (GRCh38)
6:43193488 (GRCh37)
Canonical SPDI:: NC_000006.12:43225749:G:A
Gene:: DNPH1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_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_000006.12:g.43225750G>A, NC_000006.11:g.43193488G>A, NM_006443.3:c.508C>T, NM_006443.2:c.508C>T, NM_199184.2:c.*212C>T, NM_199184.1:c.*212C>T, NP_006434.1:p.Pro170Ser

Select item 14624014765.

rs1462401476 [Homo sapiens]

Variant type:: DELINS
Alleles:: AATGCTCCCGCAGAAGTACAGGGCCGGGCGGCCAGGCTCCCCGCG>- [Show Flanks]
Chromosome:: 6:43229370 (GRCh38)
6:43197108 (GRCh37)
Canonical SPDI:: NC_000006.12:43229364:CCGCGAATGCTCCCGCAGAAGTACAGGGCCGGGCGGCCAGGCTCCCCGCG:CCGCG
Gene:: DNPH1 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: CCGCG=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000019/5 (TOPMED)
HGVS:: NC_000006.12:g.43229370_43229414del, NC_000006.11:g.43197108_43197152del, NM_006443.3:c.48_92del, NM_006443.2:c.48_92del, NM_199184.2:c.48_92del, NM_199184.1:c.48_92del, NP_006434.1:p.Glu17_Gly31del, NP_954653.1:p.Glu17_Gly31del

Select item 14580138996.

rs1458013899 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:43229279 (GRCh38)
6:43197017 (GRCh37)
Canonical SPDI:: NC_000006.12:43229278:C:A,NC_000006.12:43229278:C:T
Gene:: DNPH1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000006.12:g.43229279C>A, NC_000006.12:g.43229279C>T, NC_000006.11:g.43197017C>A, NC_000006.11:g.43197017C>T, NM_006443.3:c.178G>T, NM_006443.3:c.178G>A, NM_006443.2:c.178G>T, NM_006443.2:c.178G>A, NM_199184.2:c.178G>T, NM_199184.2:c.178G>A, NM_199184.1:c.178G>T, NM_199184.1:c.178G>A, NP_006434.1:p.Ala60Ser, NP_006434.1:p.Ala60Thr, NP_954653.1:p.Ala60Ser, NP_954653.1:p.Ala60Thr

Select item 14515578797.

rs1451557879 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:43229319 (GRCh38)
6:43197057 (GRCh37)
Canonical SPDI:: NC_000006.12:43229318:C:T
Gene:: DNPH1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000006.12:g.43229319C>T, NC_000006.11:g.43197057C>T, NM_006443.3:c.138G>A, NM_006443.2:c.138G>A, NM_199184.2:c.138G>A, NM_199184.1:c.138G>A

Select item 14486333948.

rs1448633394 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:43225773 (GRCh38)
6:43193511 (GRCh37)
Canonical SPDI:: NC_000006.12:43225772:G:A
Gene:: DNPH1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000012/3 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000006.12:g.43225773G>A, NC_000006.11:g.43193511G>A, NM_006443.3:c.485C>T, NM_006443.2:c.485C>T, NM_199184.2:c.*189C>T, NM_199184.1:c.*189C>T, NP_006434.1:p.Pro162Leu

Select item 14471170299.

rs1447117029 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:43229328 (GRCh38)
6:43197066 (GRCh37)
Canonical SPDI:: NC_000006.12:43229327:C:A,NC_000006.12:43229327:C:T
Gene:: DNPH1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.43229328C>A, NC_000006.12:g.43229328C>T, NC_000006.11:g.43197066C>A, NC_000006.11:g.43197066C>T, NM_006443.3:c.129G>T, NM_006443.3:c.129G>A, NM_006443.2:c.129G>T, NM_006443.2:c.129G>A, NM_199184.2:c.129G>T, NM_199184.2:c.129G>A, NM_199184.1:c.129G>T, NM_199184.1:c.129G>A

Select item 144669763610.

rs1446697636 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:43226095 (GRCh38)
6:43193833 (GRCh37)
Canonical SPDI:: NC_000006.12:43226094:A:G
Gene:: DNPH1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000006.12:g.43226095A>G, NC_000006.11:g.43193833A>G, NM_006443.3:c.314T>C, NM_006443.2:c.314T>C, NM_199184.2:c.314T>C, NM_199184.1:c.314T>C, NP_006434.1:p.Leu105Pro, NP_954653.1:p.Leu105Pro

Select item 144447402611.

rs1444474026 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:43229406 (GRCh38)
6:43197144 (GRCh37)
Canonical SPDI:: NC_000006.12:43229405:C:G
Gene:: DNPH1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.43229406C>G, NC_000006.11:g.43197144C>G, NM_006443.3:c.51G>C, NM_006443.2:c.51G>C, NM_199184.2:c.51G>C, NM_199184.1:c.51G>C, NP_006434.1:p.Glu17Asp, NP_954653.1:p.Glu17Asp

Select item 143481849012.

rs1434818490 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:43225799 (GRCh38)
6:43193537 (GRCh37)
Canonical SPDI:: NC_000006.12:43225798:C:A
Gene:: DNPH1 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.43225799C>A, NC_000006.11:g.43193537C>A, NM_006443.3:c.459G>T, NM_006443.2:c.459G>T, NM_199184.2:c.*163G>T, NM_199184.1:c.*163G>T

Select item 143255080113.

rs1432550801 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 6:43226103 (GRCh38)
6:43193841 (GRCh37)
Canonical SPDI:: NC_000006.12:43226102:G:
Gene:: DNPH1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.43226103del, NC_000006.11:g.43193841del, NM_006443.3:c.306del, NM_006443.2:c.306del, NM_199184.2:c.306del, NM_199184.1:c.306del, NP_006434.1:p.Tyr103fs, NP_954653.1:p.Tyr103fs

Select item 142845368514.

rs1428453685 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:43229390 (GRCh38)
6:43197128 (GRCh37)
Canonical SPDI:: NC_000006.12:43229389:G:A
Gene:: DNPH1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000006.12:g.43229390G>A, NC_000006.11:g.43197128G>A, NM_006443.3:c.67C>T, NM_006443.2:c.67C>T, NM_199184.2:c.67C>T, NM_199184.1:c.67C>T

Select item 142619033415.

rs1426190334 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 6:43229299 (GRCh38)
6:43197037 (GRCh37)
Canonical SPDI:: NC_000006.12:43229298:A:G,NC_000006.12:43229298:A:T
Gene:: DNPH1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
G=0.000071/2 (TOMMO)
HGVS:: NC_000006.12:g.43229299A>G, NC_000006.12:g.43229299A>T, NC_000006.11:g.43197037A>G, NC_000006.11:g.43197037A>T, NM_006443.3:c.158T>C, NM_006443.3:c.158T>A, NM_006443.2:c.158T>C, NM_006443.2:c.158T>A, NM_199184.2:c.158T>C, NM_199184.2:c.158T>A, NM_199184.1:c.158T>C, NM_199184.1:c.158T>A, NP_006434.1:p.Leu53Pro, NP_006434.1:p.Leu53His, NP_954653.1:p.Leu53Pro, NP_954653.1:p.Leu53His

Select item 142237496016.

rs1422374960 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:43226110 (GRCh38)
6:43193848 (GRCh37)
Canonical SPDI:: NC_000006.12:43226109:C:T
Gene:: DNPH1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.43226110C>T, NC_000006.11:g.43193848C>T, NM_006443.3:c.299G>A, NM_006443.2:c.299G>A, NM_199184.2:c.299G>A, NM_199184.1:c.299G>A, NP_006434.1:p.Gly100Asp, NP_954653.1:p.Gly100Asp

Select item 140374304917.

rs1403743049 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:43229381 (GRCh38)
6:43197119 (GRCh37)
Canonical SPDI:: NC_000006.12:43229380:A:G
Gene:: DNPH1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000018/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.43229381A>G, NC_000006.11:g.43197119A>G, NM_006443.3:c.76T>C, NM_006443.2:c.76T>C, NM_199184.2:c.76T>C, NM_199184.1:c.76T>C, NP_006434.1:p.Cys26Arg, NP_954653.1:p.Cys26Arg

Select item 139867142618.

rs1398671426 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:43229417 (GRCh38)
6:43197155 (GRCh37)
Canonical SPDI:: NC_000006.12:43229416:C:T
Gene:: DNPH1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000006.12:g.43229417C>T, NC_000006.11:g.43197155C>T, NM_006443.3:c.40G>A, NM_006443.2:c.40G>A, NM_199184.2:c.40G>A, NM_199184.1:c.40G>A, NP_006434.1:p.Glu14Lys, NP_954653.1:p.Glu14Lys

Select item 139402466119.

rs1394024661 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 6:43226061 (GRCh38)
6:43193799 (GRCh37)
Canonical SPDI:: NC_000006.12:43226060:C:
Gene:: DNPH1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.43226061del, NC_000006.11:g.43193799del, NM_006443.3:c.348del, NM_006443.2:c.348del, NM_199184.2:c.348del, NM_199184.1:c.348del, NP_006434.1:p.Cys117fs, NP_954653.1:p.Cys117fs

Select item 139192920620.

rs1391929206 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>- [Show Flanks]
Chromosome:: 6:43229268 (GRCh38)
6:43197006 (GRCh37)
Canonical SPDI:: NC_000006.12:43229260:CGCGCGCGC:CGCGCGC
Gene:: DNPH1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
HGVS:: NC_000006.12:g.43229262GC[3], NC_000006.11:g.43197000GC[3], NM_006443.3:c.195_196del, NM_006443.2:c.195_196del, NM_199184.2:c.195_196del, NM_199184.1:c.195_196del, NP_006434.1:p.Glu67fs, NP_954653.1:p.Glu67fs

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