SNP Links for Protein (Select 296179405) - SNP

Warning: The NCBI web site requires JavaScript to function. more...

Links from Protein

Items: 1 to 20 of 331

<< First< Prev

Page of 17

Next >Last >>

Select item 14882146591.

rs1488214659 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:162503783 (GRCh38)
1:162473573 (GRCh37)
Canonical SPDI:: NC_000001.11:162503782:A:G
Gene:: UHMK1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.162503783A>G, NC_000001.10:g.162473573A>G, NG_050728.1:g.11610A>G, NM_175866.5:c.783A>G, NM_175866.4:c.783A>G, NM_144624.2:c.783A>G, NM_001184763.1:c.561A>G, NP_787062.1:p.Ile261Met, NP_653225.2:p.Ile261Met, NP_001171692.1:p.Ile187Met

Select item 14862822302.

rs1486282230 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:162498052 (GRCh38)
1:162467842 (GRCh37)
Canonical SPDI:: NC_000001.11:162498051:G:T
Gene:: UHMK1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.162498052G>T, NC_000001.10:g.162467842G>T, NG_050728.1:g.5879G>T, NM_175866.5:c.52G>T, NM_175866.4:c.52G>T, NM_144624.2:c.52G>T, NP_787062.1:p.Ala18Ser, NP_653225.2:p.Ala18Ser

Select item 14852685113.

rs1485268511 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:162498070 (GRCh38)
1:162467860 (GRCh37)
Canonical SPDI:: NC_000001.11:162498069:C:G
Gene:: UHMK1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.162498070C>G, NC_000001.10:g.162467860C>G, NG_050728.1:g.5897C>G, NM_175866.5:c.70C>G, NM_175866.4:c.70C>G, NM_144624.2:c.70C>G, NP_787062.1:p.Gln24Glu, NP_653225.2:p.Gln24Glu

Select item 14795219914.

rs1479521991 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:162498123 (GRCh38)
1:162467913 (GRCh37)
Canonical SPDI:: NC_000001.11:162498122:C:G
Gene:: UHMK1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.162498123C>G, NC_000001.10:g.162467913C>G, NG_050728.1:g.5950C>G, NM_175866.5:c.123C>G, NM_175866.4:c.123C>G, NM_144624.2:c.123C>G

Select item 14780437075.

rs1478043707 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:162500223 (GRCh38)
1:162470013 (GRCh37)
Canonical SPDI:: NC_000001.11:162500222:A:G
Gene:: UHMK1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.162500223A>G, NC_000001.10:g.162470013A>G, NG_050728.1:g.8050A>G, NM_175866.5:c.537A>G, NM_175866.4:c.537A>G, NM_144624.2:c.537A>G, NM_001184763.1:c.315A>G

Select item 14779709056.

rs1477970905 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:162512732 (GRCh38)
1:162482522 (GRCh37)
Canonical SPDI:: NC_000001.11:162512731:T:C
Gene:: UHMK1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.162512732T>C, NC_000001.10:g.162482522T>C, NG_050728.1:g.20559T>C, NM_175866.5:c.933T>C, NM_175866.4:c.933T>C, NM_144624.2:c.933T>C, NM_001184763.1:c.711T>C

Select item 14751165197.

rs1475116519 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:162500139 (GRCh38)
1:162469929 (GRCh37)
Canonical SPDI:: NC_000001.11:162500138:T:C
Gene:: UHMK1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.162500139T>C, NC_000001.10:g.162469929T>C, NG_050728.1:g.7966T>C, NM_175866.5:c.453T>C, NM_175866.4:c.453T>C, NM_144624.2:c.453T>C, NM_001184763.1:c.231T>C

Select item 14744425728.

rs1474442572 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:162498268 (GRCh38)
1:162468058 (GRCh37)
Canonical SPDI:: NC_000001.11:162498267:G:A
Gene:: UHMK1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.162498268G>A, NC_000001.10:g.162468058G>A, NG_050728.1:g.6095G>A, NM_175866.5:c.268G>A, NM_175866.4:c.268G>A, NM_144624.2:c.268G>A, NP_787062.1:p.Val90Met, NP_653225.2:p.Val90Met

Select item 14681127529.

rs1468112752 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:162500121 (GRCh38)
1:162469911 (GRCh37)
Canonical SPDI:: NC_000001.11:162500120:C:T
Gene:: UHMK1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.162500121C>T, NC_000001.10:g.162469911C>T, NG_050728.1:g.7948C>T, NM_175866.5:c.435C>T, NM_175866.4:c.435C>T, NM_144624.2:c.435C>T, NM_001184763.1:c.213C>T

Select item 146690418710.

rs1466904187 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:162500983 (GRCh38)
1:162470773 (GRCh37)
Canonical SPDI:: NC_000001.11:162500982:C:A
Gene:: UHMK1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.162500983C>A, NC_000001.10:g.162470773C>A, NG_050728.1:g.8810C>A, NM_175866.5:c.632C>A, NM_175866.4:c.632C>A, NM_144624.2:c.632C>A, NM_001184763.1:c.410C>A, NP_787062.1:p.Ala211Asp, NP_653225.2:p.Ala211Asp, NP_001171692.1:p.Ala137Asp

Select item 146585409911.

rs1465854099 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:162500143 (GRCh38)
1:162469933 (GRCh37)
Canonical SPDI:: NC_000001.11:162500142:G:A
Gene:: UHMK1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.162500143G>A, NC_000001.10:g.162469933G>A, NG_050728.1:g.7970G>A, NM_175866.5:c.457G>A, NM_175866.4:c.457G>A, NM_144624.2:c.457G>A, NM_001184763.1:c.235G>A, NP_787062.1:p.Gly153Ser, NP_653225.2:p.Gly153Ser, NP_001171692.1:p.Gly79Ser

Select item 146534313212.

rs1465343132 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:162501080 (GRCh38)
1:162470870 (GRCh37)
Canonical SPDI:: NC_000001.11:162501079:T:C
Gene:: UHMK1 (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=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.162501080T>C, NC_000001.10:g.162470870T>C, NG_050728.1:g.8907T>C, NM_175866.5:c.729T>C, NM_175866.4:c.729T>C, NM_144624.2:c.729T>C, NM_001184763.1:c.507T>C

Select item 146164677513.

rs1461646775 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:162498255 (GRCh38)
1:162468045 (GRCh37)
Canonical SPDI:: NC_000001.11:162498254:T:C,NC_000001.11:162498254:T:G
Gene:: UHMK1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by cluster
HGVS:: NC_000001.11:g.162498255T>C, NC_000001.11:g.162498255T>G, NC_000001.10:g.162468045T>C, NC_000001.10:g.162468045T>G, NG_050728.1:g.6082T>C, NG_050728.1:g.6082T>G, NM_175866.5:c.255T>C, NM_175866.5:c.255T>G, NM_175866.4:c.255T>C, NM_175866.4:c.255T>G, NM_144624.2:c.255T>C, NM_144624.2:c.255T>G

Select item 145873127914.

rs1458731279 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 1:162501052 (GRCh38)
1:162470842 (GRCh37)
Canonical SPDI:: NC_000001.11:162501051:AAA:AA
Gene:: UHMK1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.162501054del, NC_000001.10:g.162470844del, NG_050728.1:g.8881del, NM_175866.5:c.703del, NM_175866.4:c.703del, NM_144624.2:c.703del, NM_001184763.1:c.481del, NP_787062.1:p.Met235fs, NP_653225.2:p.Met235fs, NP_001171692.1:p.Met161fs

Select item 145511632215.

rs1455116322 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:162498142 (GRCh38)
1:162467932 (GRCh37)
Canonical SPDI:: NC_000001.11:162498141:T:C,NC_000001.11:162498141:T:G
Gene:: UHMK1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.162498142T>C, NC_000001.11:g.162498142T>G, NC_000001.10:g.162467932T>C, NC_000001.10:g.162467932T>G, NG_050728.1:g.5969T>C, NG_050728.1:g.5969T>G, NM_175866.5:c.142T>C, NM_175866.5:c.142T>G, NM_175866.4:c.142T>C, NM_175866.4:c.142T>G, NM_144624.2:c.142T>C, NM_144624.2:c.142T>G, NP_787062.1:p.Ser48Pro, NP_787062.1:p.Ser48Ala, NP_653225.2:p.Ser48Pro, NP_653225.2:p.Ser48Ala

Select item 145332535216.

rs1453325352 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:162500199 (GRCh38)
1:162469989 (GRCh37)
Canonical SPDI:: NC_000001.11:162500198:A:G
Gene:: UHMK1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.162500199A>G, NC_000001.10:g.162469989A>G, NG_050728.1:g.8026A>G, NM_175866.5:c.513A>G, NM_175866.4:c.513A>G, NM_144624.2:c.513A>G, NM_001184763.1:c.291A>G

Select item 145254406117.

rs1452544061 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:162500057 (GRCh38)
1:162469847 (GRCh37)
Canonical SPDI:: NC_000001.11:162500056:A:G
Gene:: UHMK1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.162500057A>G, NC_000001.10:g.162469847A>G, NG_050728.1:g.7884A>G, NM_175866.5:c.371A>G, NM_175866.4:c.371A>G, NM_144624.2:c.371A>G, NM_001184763.1:c.149A>G, NP_787062.1:p.Tyr124Cys, NP_653225.2:p.Tyr124Cys, NP_001171692.1:p.Tyr50Cys

Select item 144704865918.

rs1447048659 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 1:162500078 (GRCh38)
1:162469868 (GRCh37)
Canonical SPDI:: NC_000001.11:162500077:CC:C
Gene:: UHMK1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.162500079del, NC_000001.10:g.162469869del, NG_050728.1:g.7906del, NM_175866.5:c.393del, NM_175866.4:c.393del, NM_144624.2:c.393del, NM_001184763.1:c.171del, NP_787062.1:p.Met132fs, NP_653225.2:p.Met132fs, NP_001171692.1:p.Met58fs

Select item 144146716819.

rs1441467168 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:162512822 (GRCh38)
1:162482612 (GRCh37)
Canonical SPDI:: NC_000001.11:162512821:A:C
Gene:: UHMK1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.162512822A>C, NC_000001.10:g.162482612A>C, NG_050728.1:g.20649A>C, NM_175866.5:c.1023A>C, NM_175866.4:c.1023A>C, NM_144624.2:c.1023A>C, NM_001184763.1:c.801A>C, NP_787062.1:p.Glu341Asp, NP_653225.2:p.Glu341Asp, NP_001171692.1:p.Glu267Asp

Select item 143873772320.

rs1438737723 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:162498204 (GRCh38)
1:162467994 (GRCh37)
Canonical SPDI:: NC_000001.11:162498203:C:A,NC_000001.11:162498203:C:T
Gene:: UHMK1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
A=0.000546/1 (Korea1K)
HGVS:: NC_000001.11:g.162498204C>A, NC_000001.11:g.162498204C>T, NC_000001.10:g.162467994C>A, NC_000001.10:g.162467994C>T, NG_050728.1:g.6031C>A, NG_050728.1:g.6031C>T, NM_175866.5:c.204C>A, NM_175866.5:c.204C>T, NM_175866.4:c.204C>A, NM_175866.4:c.204C>T, NM_144624.2:c.204C>A, NM_144624.2:c.204C>T

<< First< Prev

Page of 17

Next >Last >>

Supplemental Content

Filters: Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

SNP Links for Protein (Select 296179405) (331)
SNP

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to: