SNP Links for Protein (Select 767966301) - SNP

Links from Protein

Items: 1 to 20 of 208

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Select item 14820321001.

rs1482032100 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:1972604 (GRCh38)
11:1993834 (GRCh37)
Canonical SPDI:: NC_000011.10:1972603:C:T
Gene:: MRPL23 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000027/4 (GnomAD_exomes)
HGVS:: NC_000011.10:g.1972604C>T, NC_000011.9:g.1993834C>T, NW_021160004.1:g.165126C>T, XM_011520273.2:c.343C>T, XM_011520273.1:c.343C>T, NM_001400176.1:c.343C>T, NM_001400179.1:c.343C>T, XP_011518575.1:p.Leu115Phe, NP_001387105.1:p.Leu115Phe, NP_001387108.1:p.Leu115Phe

Select item 14817254272.

rs1481725427 [Homo sapiens]

Variant type:: SNV:
Alleles:: T>C
Chromosome:: no mapping
Canonical SPDI:

Select item 14810037743.

rs1481003774 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:1951012 (GRCh38)
11:1972242 (GRCh37)
Canonical SPDI:: NC_000011.10:1951011:T:A
Gene:: MRPL23 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.1951012T>A, NC_000011.9:g.1972242T>A, NW_021160004.1:g.143534T>A, NM_021134.4:c.131T>A, NM_021134.3:c.131T>A, XM_011520273.2:c.131T>A, XM_011520273.1:c.131T>A, NM_001400176.1:c.131T>A, NM_001400179.1:c.131T>A, NM_001400182.1:c.131T>A, NM_001400172.1:c.-5T>A, NR_174403.1:n.162T>A, NM_001400174.1:c.131T>A, NP_066957.3:p.Ile44Asn, XP_011518575.1:p.Ile44Asn, NP_001387105.1:p.Ile44Asn, NP_001387108.1:p.Ile44Asn, NP_001387111.1:p.Ile44Asn, NP_001387103.1:p.Ile44Asn

Select item 14758984804.

rs1475898480 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:1972618 (GRCh38)
11:1993848 (GRCh37)
Canonical SPDI:: NC_000011.10:1972617:C:A
Gene:: MRPL23 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.1972618C>A, NC_000011.9:g.1993848C>A, NW_021160004.1:g.165140C>A, XM_011520273.2:c.357C>A, XM_011520273.1:c.357C>A, NM_001400176.1:c.357C>A, NM_001400179.1:c.357C>A, XP_011518575.1:p.Ser119Arg, NP_001387105.1:p.Ser119Arg, NP_001387108.1:p.Ser119Arg

Select item 14709339555.

rs1470933955 [Homo sapiens]

Variant type:: SNV:
Alleles:: C>G
Chromosome:: no mapping
Canonical SPDI:

Select item 14682985826.

rs1468298582 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:1947369 (GRCh38)
11:1968599 (GRCh37)
Canonical SPDI:: NC_000011.10:1947368:C:T
Gene:: MRPL23 (Varview), SNORD131 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.1947369C>T, NC_000011.9:g.1968599C>T, NW_021160004.1:g.139891C>T, NM_021134.4:c.7C>T, NM_021134.3:c.7C>T, XM_011520273.2:c.7C>T, XM_011520273.1:c.7C>T, NM_001400176.1:c.7C>T, NM_001400179.1:c.7C>T, NM_001400182.1:c.7C>T, NM_001400172.1:c.-328C>T, NR_174403.1:n.38C>T, NM_001400174.1:c.7C>T, NP_066957.3:p.Arg3Trp, XP_011518575.1:p.Arg3Trp, NP_001387105.1:p.Arg3Trp, NP_001387108.1:p.Arg3Trp, NP_001387111.1:p.Arg3Trp, NP_001387103.1:p.Arg3Trp

Select item 14654105997.

rs1465410599 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:1972649 (GRCh38)
11:1993879 (GRCh37)
Canonical SPDI:: NC_000011.10:1972648:A:G
Gene:: MRPL23 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.1972649A>G, NC_000011.9:g.1993879A>G, NW_021160004.1:g.165171A>G, XM_011520273.2:c.388A>G, XM_011520273.1:c.388A>G, NM_001400176.1:c.388A>G, NM_001400179.1:c.388A>G, XP_011518575.1:p.Thr130Ala, NP_001387105.1:p.Thr130Ala, NP_001387108.1:p.Thr130Ala

Select item 14511375868.

rs1451137586 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:1952791 (GRCh38)
11:1974021 (GRCh37)
Canonical SPDI:: NC_000011.10:1952790:A:G
Gene:: MRPL23 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.1952791A>G, NC_000011.9:g.1974021A>G, NW_021160004.1:g.145313A>G, NM_021134.4:c.233A>G, NM_021134.3:c.233A>G, XM_011520273.2:c.233A>G, XM_011520273.1:c.233A>G, NM_001400176.1:c.233A>G, NM_001400179.1:c.233A>G, NM_001400182.1:c.233A>G, NM_001400172.1:c.98A>G, NR_174403.1:n.264A>G, NM_001400174.1:c.233A>G, NP_066957.3:p.Lys78Arg, XP_011518575.1:p.Lys78Arg, NP_001387105.1:p.Lys78Arg, NP_001387108.1:p.Lys78Arg, NP_001387111.1:p.Lys78Arg, NP_001387101.1:p.Lys33Arg, NP_001387103.1:p.Lys78Arg

Select item 14508512239.

rs1450851223 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:1950963 (GRCh38)
11:1972193 (GRCh37)
Canonical SPDI:: NC_000011.10:1950962:C:G
Gene:: MRPL23 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000011.10:g.1950963C>G, NC_000011.9:g.1972193C>G, NW_021160004.1:g.143485C>G, NM_021134.4:c.82C>G, NM_021134.3:c.82C>G, XM_011520273.2:c.82C>G, XM_011520273.1:c.82C>G, NM_001400176.1:c.82C>G, NM_001400179.1:c.82C>G, NM_001400182.1:c.82C>G, NM_001400172.1:c.-54C>G, NR_174403.1:n.113C>G, NM_001400174.1:c.82C>G, NP_066957.3:p.Leu28Val, XP_011518575.1:p.Leu28Val, NP_001387105.1:p.Leu28Val, NP_001387108.1:p.Leu28Val, NP_001387111.1:p.Leu28Val, NP_001387103.1:p.Leu28Val

Select item 144674965410.

rs1446749654 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:1950997 (GRCh38)
11:1972227 (GRCh37)
Canonical SPDI:: NC_000011.10:1950996:C:A
Gene:: MRPL23 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.1950997C>A, NC_000011.9:g.1972227C>A, NW_021160004.1:g.143519C>A, NM_021134.4:c.116C>A, NM_021134.3:c.116C>A, XM_011520273.2:c.116C>A, XM_011520273.1:c.116C>A, NM_001400176.1:c.116C>A, NM_001400179.1:c.116C>A, NM_001400182.1:c.116C>A, NM_001400172.1:c.-20C>A, NR_174403.1:n.147C>A, NM_001400174.1:c.116C>A, NP_066957.3:p.Thr39Asn, XP_011518575.1:p.Thr39Asn, NP_001387105.1:p.Thr39Asn, NP_001387108.1:p.Thr39Asn, NP_001387111.1:p.Thr39Asn, NP_001387103.1:p.Thr39Asn

Select item 144278312111.

rs1442783121 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:1952826 (GRCh38)
11:1974056 (GRCh37)
Canonical SPDI:: NC_000011.10:1952825:C:T
Gene:: MRPL23 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.1952826C>T, NC_000011.9:g.1974056C>T, NW_021160004.1:g.145348C>T, NM_021134.4:c.268C>T, NM_021134.3:c.268C>T, XM_011520273.2:c.268C>T, XM_011520273.1:c.268C>T, NM_001400176.1:c.268C>T, NM_001400179.1:c.268C>T, NM_001400182.1:c.268C>T, NM_001400172.1:c.133C>T, NR_174403.1:n.299C>T, NM_001400174.1:c.268C>T, NP_066957.3:p.Pro90Ser, XP_011518575.1:p.Pro90Ser, NP_001387105.1:p.Pro90Ser, NP_001387108.1:p.Pro90Ser, NP_001387111.1:p.Pro90Ser, NP_001387101.1:p.Pro45Ser, NP_001387103.1:p.Pro90Ser

Select item 144206742012.

rs1442067420 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:1972748 (GRCh38)
11:1993978 (GRCh37)
Canonical SPDI:: NC_000011.10:1972747:C:A
Gene:: MRPL23 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000014/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.1972748C>A, NC_000011.9:g.1993978C>A, NW_021160004.1:g.165270C>A, XM_011520273.2:c.487C>A, XM_011520273.1:c.487C>A, NM_001400176.1:c.487C>A, NM_001400179.1:c.487C>A, XP_011518575.1:p.Leu163Ile, NP_001387105.1:p.Leu163Ile, NP_001387108.1:p.Leu163Ile

Select item 144088914813.

rs1440889148 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 11:1972559 (GRCh38)
11:1993789 (GRCh37)
Canonical SPDI:: NC_000011.10:1972558:CCC:CC
Gene:: MRPL23 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,genic_downstream_transcript_variant
HGVS:: NC_000011.10:g.1972561del, NC_000011.9:g.1993791del, NW_021160004.1:g.165083del, XM_011520273.2:c.300del, XM_011520273.1:c.300del, NM_001400176.1:c.300del, NM_001400179.1:c.300del, XP_011518575.1:p.Ser101fs, NP_001387105.1:p.Ser101fs, NP_001387108.1:p.Ser101fs

Select item 143725008414.

rs1437250084 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:1952188 (GRCh38)
11:1973418 (GRCh37)
Canonical SPDI:: NC_000011.10:1952187:G:C
Gene:: MRPL23 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000934/16 (TOMMO)
HGVS:: NC_000011.10:g.1952188G>C, NC_000011.9:g.1973418G>C, NW_021160004.1:g.144710G>C, NM_021134.4:c.202G>C, NM_021134.3:c.202G>C, XM_011520273.2:c.202G>C, XM_011520273.1:c.202G>C, NM_001400176.1:c.202G>C, NM_001400179.1:c.202G>C, NM_001400182.1:c.202G>C, NM_001400172.1:c.67G>C, NR_174403.1:n.233G>C, NM_001400174.1:c.202G>C, NP_066957.3:p.Val68Leu, XP_011518575.1:p.Val68Leu, NP_001387105.1:p.Val68Leu, NP_001387108.1:p.Val68Leu, NP_001387111.1:p.Val68Leu, NP_001387101.1:p.Val23Leu, NP_001387103.1:p.Val68Leu

Select item 143625181115.

rs1436251811 [Homo sapiens]

Variant type:: SNV:
Alleles:: T>A
Chromosome:: no mapping
Canonical SPDI:

Select item 143304647516.

rs1433046475 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:1972739 (GRCh38)
11:1993969 (GRCh37)
Canonical SPDI:: NC_000011.10:1972738:G:A
Gene:: MRPL23 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000094/2 (ALFA)
A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.1972739G>A, NC_000011.9:g.1993969G>A, NW_021160004.1:g.165261G>A, XM_011520273.2:c.478G>A, XM_011520273.1:c.478G>A, NM_001400176.1:c.478G>A, NM_001400179.1:c.478G>A, XP_011518575.1:p.Asp160Asn, NP_001387105.1:p.Asp160Asn, NP_001387108.1:p.Asp160Asn

Select item 142908348817.

rs1429083488 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:1972633 (GRCh38)
11:1993863 (GRCh37)
Canonical SPDI:: NC_000011.10:1972632:G:T
Gene:: MRPL23 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
HGVS:: NC_000011.10:g.1972633G>T, NC_000011.9:g.1993863G>T, NW_021160004.1:g.165155G>T, XM_011520273.2:c.372G>T, XM_011520273.1:c.372G>T, NM_001400176.1:c.372G>T, NM_001400179.1:c.372G>T

Select item 142715481118.

rs1427154811 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:1952175 (GRCh38)
11:1973405 (GRCh37)
Canonical SPDI:: NC_000011.10:1952174:G:A
Gene:: MRPL23 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.1952175G>A, NC_000011.9:g.1973405G>A, NW_021160004.1:g.144697G>A, NM_021134.4:c.189G>A, NM_021134.3:c.189G>A, XM_011520273.2:c.189G>A, XM_011520273.1:c.189G>A, NM_001400176.1:c.189G>A, NM_001400179.1:c.189G>A, NM_001400182.1:c.189G>A, NM_001400172.1:c.54G>A, NR_174403.1:n.220G>A, NM_001400174.1:c.189G>A

Select item 142583855519.

rs1425838555 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:2011559 (GRCh38)
11:2032789 (GRCh37)
Canonical SPDI:: NC_000011.10:2011558:G:A
Gene:: MRPL23 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
HGVS:: NC_000011.10:g.2011559G>A, NC_000011.9:g.2032789G>A, NW_021160004.1:g.204081G>A, XM_011520273.2:c.516G>A, XM_011520273.1:c.516G>A, NM_001400176.1:c.516G>A

Select item 142305963620.

rs1423059636 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:1972719 (GRCh38)
11:1993949 (GRCh37)
Canonical SPDI:: NC_000011.10:1972718:C:A,NC_000011.10:1972718:C:T
Gene:: MRPL23 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000047/1 (ALFA)
T=0.000027/4 (GnomAD_exomes)
C=0.5/2 (SGDP_PRJ)
HGVS:: NC_000011.10:g.1972719C>A, NC_000011.10:g.1972719C>T, NC_000011.9:g.1993949C>A, NC_000011.9:g.1993949C>T, NW_021160004.1:g.165241C>A, NW_021160004.1:g.165241C>T, XM_011520273.2:c.458C>A, XM_011520273.2:c.458C>T, XM_011520273.1:c.458C>A, XM_011520273.1:c.458C>T, NM_001400176.1:c.458C>A, NM_001400176.1:c.458C>T, NM_001400179.1:c.458C>A, NM_001400179.1:c.458C>T, XP_011518575.1:p.Pro153Gln, XP_011518575.1:p.Pro153Leu, NP_001387105.1:p.Pro153Gln, NP_001387105.1:p.Pro153Leu, NP_001387108.1:p.Pro153Gln, NP_001387108.1:p.Pro153Leu

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