SNP Links for Protein (Select 1034583848) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 231

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Select item 14867839451.

rs1486783945 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:43868701 (GRCh38)
13:44442837 (GRCh37)
Canonical SPDI:: NC_000013.11:43868700:T:C
Gene:: CCDC122 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.43868701T>C, NC_000013.10:g.44442837T>C, NM_144974.5:c.149A>G, NM_144974.4:c.149A>G, NM_144974.3:c.149A>G, XM_017020397.3:c.149A>G, XM_017020397.2:c.149A>G, XM_017020397.1:c.149A>G, XM_024449327.2:c.-215A>G, XM_024449327.1:c.-215A>G, XM_017020398.2:c.149A>G, XM_017020398.1:c.149A>G, XM_047430113.1:c.149A>G, XM_047430112.1:c.149A>G, XM_047430114.1:c.149A>G, NP_659411.2:p.Asn50Ser, XP_016875886.1:p.Asn50Ser, XP_016875887.1:p.Asn50Ser, XP_047286069.1:p.Asn50Ser, XP_047286068.1:p.Asn50Ser, XP_047286070.1:p.Asn50Ser

Select item 14818172972.

rs1481817297 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 13:43859942 (GRCh38)
13:44434078 (GRCh37)
Canonical SPDI:: NC_000013.11:43859941:A:C
Gene:: CCDC122 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000102/2 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000013.11:g.43859942A>C, NC_000013.10:g.44434078A>C, NM_144974.5:c.285T>G, NM_144974.4:c.285T>G, NM_144974.3:c.285T>G, XM_017020397.3:c.285T>G, XM_017020397.2:c.285T>G, XM_017020397.1:c.285T>G, XM_024449324.2:c.-79T>G, XM_024449324.1:c.-79T>G, XM_024449327.2:c.-79T>G, XM_024449327.1:c.-79T>G, NM_001350617.2:c.-79T>G, NM_001350617.1:c.-79T>G, NM_001350618.2:c.-79T>G, NM_001350618.1:c.-79T>G, XM_017020398.2:c.285T>G, XM_017020398.1:c.285T>G, XM_047430113.1:c.285T>G, XM_047430112.1:c.285T>G, XM_047430114.1:c.285T>G

Select item 14775911383.

rs1477591138 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 13:43839036 (GRCh38)
13:44413172 (GRCh37)
Canonical SPDI:: NC_000013.11:43839035:A:C
Gene:: CCDC122 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.43839036A>C, NC_000013.10:g.44413172A>C, XM_017020398.2:c.725T>G, XM_017020398.1:c.725T>G, XP_016875887.1:p.Leu242Arg

Select item 14750138144.

rs1475013814 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:43868724 (GRCh38)
13:44442860 (GRCh37)
Canonical SPDI:: NC_000013.11:43868723:T:C
Gene:: CCDC122 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
HGVS:: NC_000013.11:g.43868724T>C, NC_000013.10:g.44442860T>C, NM_144974.5:c.126A>G, NM_144974.4:c.126A>G, NM_144974.3:c.126A>G, XM_017020397.3:c.126A>G, XM_017020397.2:c.126A>G, XM_017020397.1:c.126A>G, XM_024449327.2:c.-238A>G, XM_024449327.1:c.-238A>G, XM_017020398.2:c.126A>G, XM_017020398.1:c.126A>G, XM_047430113.1:c.126A>G, XM_047430112.1:c.126A>G, XM_047430114.1:c.126A>G

Select item 14742103025.

rs1474210302 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:43858893 (GRCh38)
13:44433029 (GRCh37)
Canonical SPDI:: NC_000013.11:43858892:T:C
Gene:: CCDC122 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000013.11:g.43858893T>C, NC_000013.10:g.44433029T>C, NM_144974.5:c.560A>G, NM_144974.4:c.560A>G, NM_144974.3:c.560A>G, XM_017020397.3:c.560A>G, XM_017020397.2:c.560A>G, XM_017020397.1:c.560A>G, XM_024449324.2:c.197A>G, XM_024449324.1:c.197A>G, XM_024449327.2:c.197A>G, XM_024449327.1:c.197A>G, NM_001350617.2:c.197A>G, NM_001350617.1:c.197A>G, NM_001350618.2:c.197A>G, NM_001350618.1:c.197A>G, XM_017020398.2:c.560A>G, XM_017020398.1:c.560A>G, XM_047430113.1:c.560A>G, XM_047430112.1:c.560A>G, XM_047430114.1:c.560A>G, NP_659411.2:p.Asp187Gly, XP_016875886.1:p.Asp187Gly, XP_024305092.1:p.Asp66Gly, XP_024305095.1:p.Asp66Gly, NP_001337546.1:p.Asp66Gly, NP_001337547.1:p.Asp66Gly, XP_016875887.1:p.Asp187Gly, XP_047286069.1:p.Asp187Gly, XP_047286068.1:p.Asp187Gly, XP_047286070.1:p.Asp187Gly

Select item 14723023456.

rs1472302345 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:43859885 (GRCh38)
13:44434021 (GRCh37)
Canonical SPDI:: NC_000013.11:43859884:G:A
Gene:: CCDC122 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.43859885G>A, NC_000013.10:g.44434021G>A, NM_144974.5:c.342C>T, NM_144974.4:c.342C>T, NM_144974.3:c.342C>T, XM_017020397.3:c.342C>T, XM_017020397.2:c.342C>T, XM_017020397.1:c.342C>T, XM_024449324.2:c.-22C>T, XM_024449324.1:c.-22C>T, XM_024449327.2:c.-22C>T, XM_024449327.1:c.-22C>T, NM_001350617.2:c.-22C>T, NM_001350617.1:c.-22C>T, NM_001350618.2:c.-22C>T, NM_001350618.1:c.-22C>T, XM_017020398.2:c.342C>T, XM_017020398.1:c.342C>T, XM_047430113.1:c.342C>T, XM_047430112.1:c.342C>T, XM_047430114.1:c.342C>T

Select item 14716189687.

rs1471618968 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 13:43859808 (GRCh38)
13:44433944 (GRCh37)
Canonical SPDI:: NC_000013.11:43859807:C:G
Gene:: CCDC122 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.43859808C>G, NC_000013.10:g.44433944C>G, NM_144974.5:c.419G>C, NM_144974.4:c.419G>C, NM_144974.3:c.419G>C, XM_017020397.3:c.419G>C, XM_017020397.2:c.419G>C, XM_017020397.1:c.419G>C, XM_024449324.2:c.56G>C, XM_024449324.1:c.56G>C, XM_024449327.2:c.56G>C, XM_024449327.1:c.56G>C, NM_001350617.2:c.56G>C, NM_001350617.1:c.56G>C, NM_001350618.2:c.56G>C, NM_001350618.1:c.56G>C, XM_017020398.2:c.419G>C, XM_017020398.1:c.419G>C, XM_047430113.1:c.419G>C, XM_047430112.1:c.419G>C, XM_047430114.1:c.419G>C, NP_659411.2:p.Gly140Ala, XP_016875886.1:p.Gly140Ala, XP_024305092.1:p.Gly19Ala, XP_024305095.1:p.Gly19Ala, NP_001337546.1:p.Gly19Ala, NP_001337547.1:p.Gly19Ala, XP_016875887.1:p.Gly140Ala, XP_047286069.1:p.Gly140Ala, XP_047286068.1:p.Gly140Ala, XP_047286070.1:p.Gly140Ala

Select item 14691808618.

rs1469180861 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 13:43859889 (GRCh38)
13:44434025 (GRCh37)
Canonical SPDI:: NC_000013.11:43859888:G:C
Gene:: CCDC122 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.43859889G>C, NC_000013.10:g.44434025G>C, NM_144974.5:c.338C>G, NM_144974.4:c.338C>G, NM_144974.3:c.338C>G, XM_017020397.3:c.338C>G, XM_017020397.2:c.338C>G, XM_017020397.1:c.338C>G, XM_024449324.2:c.-26C>G, XM_024449324.1:c.-26C>G, XM_024449327.2:c.-26C>G, XM_024449327.1:c.-26C>G, NM_001350617.2:c.-26C>G, NM_001350617.1:c.-26C>G, NM_001350618.2:c.-26C>G, NM_001350618.1:c.-26C>G, XM_017020398.2:c.338C>G, XM_017020398.1:c.338C>G, XM_047430113.1:c.338C>G, XM_047430112.1:c.338C>G, XM_047430114.1:c.338C>G, NP_659411.2:p.Thr113Arg, XP_016875886.1:p.Thr113Arg, XP_016875887.1:p.Thr113Arg, XP_047286069.1:p.Thr113Arg, XP_047286068.1:p.Thr113Arg, XP_047286070.1:p.Thr113Arg

Select item 14672979169.

rs1467297916 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 13:43859853 (GRCh38)
13:44433989 (GRCh37)
Canonical SPDI:: NC_000013.11:43859852:T:A,NC_000013.11:43859852:T:C
Gene:: CCDC122 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000028/1 (ALFA)
A=0.000019/5 (TOPMED)
HGVS:: NC_000013.11:g.43859853T>A, NC_000013.11:g.43859853T>C, NC_000013.10:g.44433989T>A, NC_000013.10:g.44433989T>C, NM_144974.5:c.374A>T, NM_144974.5:c.374A>G, NM_144974.4:c.374A>T, NM_144974.4:c.374A>G, NM_144974.3:c.374A>T, NM_144974.3:c.374A>G, XM_017020397.3:c.374A>T, XM_017020397.3:c.374A>G, XM_017020397.2:c.374A>T, XM_017020397.2:c.374A>G, XM_017020397.1:c.374A>T, XM_017020397.1:c.374A>G, XM_024449324.2:c.11A>T, XM_024449324.2:c.11A>G, XM_024449324.1:c.11A>T, XM_024449324.1:c.11A>G, XM_024449327.2:c.11A>T, XM_024449327.2:c.11A>G, XM_024449327.1:c.11A>T, XM_024449327.1:c.11A>G, NM_001350617.2:c.11A>T, NM_001350617.2:c.11A>G, NM_001350617.1:c.11A>T, NM_001350617.1:c.11A>G, NM_001350618.2:c.11A>T, NM_001350618.2:c.11A>G, NM_001350618.1:c.11A>T, NM_001350618.1:c.11A>G, XM_017020398.2:c.374A>T, XM_017020398.2:c.374A>G, XM_017020398.1:c.374A>T, XM_017020398.1:c.374A>G, XM_047430113.1:c.374A>T, XM_047430113.1:c.374A>G, XM_047430112.1:c.374A>T, XM_047430112.1:c.374A>G, XM_047430114.1:c.374A>T, XM_047430114.1:c.374A>G, NP_659411.2:p.Tyr125Phe, NP_659411.2:p.Tyr125Cys, XP_016875886.1:p.Tyr125Phe, XP_016875886.1:p.Tyr125Cys, XP_024305092.1:p.Tyr4Phe, XP_024305092.1:p.Tyr4Cys, XP_024305095.1:p.Tyr4Phe, XP_024305095.1:p.Tyr4Cys, NP_001337546.1:p.Tyr4Phe, NP_001337546.1:p.Tyr4Cys, NP_001337547.1:p.Tyr4Phe, NP_001337547.1:p.Tyr4Cys, XP_016875887.1:p.Tyr125Phe, XP_016875887.1:p.Tyr125Cys, XP_047286069.1:p.Tyr125Phe, XP_047286069.1:p.Tyr125Cys, XP_047286068.1:p.Tyr125Phe, XP_047286068.1:p.Tyr125Cys, XP_047286070.1:p.Tyr125Phe, XP_047286070.1:p.Tyr125Cys

Select item 146718656310.

rs1467186563 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:43859699 (GRCh38)
13:44433835 (GRCh37)
Canonical SPDI:: NC_000013.11:43859698:T:C
Gene:: CCDC122 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000013.11:g.43859699T>C, NC_000013.10:g.44433835T>C, NM_144974.5:c.528A>G, NM_144974.4:c.528A>G, NM_144974.3:c.528A>G, XM_017020397.3:c.528A>G, XM_017020397.2:c.528A>G, XM_017020397.1:c.528A>G, XM_024449324.2:c.165A>G, XM_024449324.1:c.165A>G, XM_024449327.2:c.165A>G, XM_024449327.1:c.165A>G, NM_001350617.2:c.165A>G, NM_001350617.1:c.165A>G, NM_001350618.2:c.165A>G, NM_001350618.1:c.165A>G, XM_017020398.2:c.528A>G, XM_017020398.1:c.528A>G, XM_047430113.1:c.528A>G, XM_047430112.1:c.528A>G, XM_047430114.1:c.528A>G

Select item 146652904011.

rs1466529040 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:43860061 (GRCh38)
13:44434197 (GRCh37)
Canonical SPDI:: NC_000013.11:43860060:G:A
Gene:: CCDC122 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.43860061G>A, NC_000013.10:g.44434197G>A, NM_144974.5:c.166C>T, NM_144974.4:c.166C>T, NM_144974.3:c.166C>T, XM_017020397.3:c.166C>T, XM_017020397.2:c.166C>T, XM_017020397.1:c.166C>T, XM_024449324.2:c.-198C>T, XM_024449324.1:c.-198C>T, XM_024449327.2:c.-198C>T, XM_024449327.1:c.-198C>T, NM_001350617.2:c.-198C>T, NM_001350617.1:c.-198C>T, NM_001350618.2:c.-198C>T, NM_001350618.1:c.-198C>T, XM_017020398.2:c.166C>T, XM_017020398.1:c.166C>T, XM_047430113.1:c.166C>T, XM_047430112.1:c.166C>T, XM_047430114.1:c.166C>T, NP_659411.2:p.His56Tyr, XP_016875886.1:p.His56Tyr, XP_016875887.1:p.His56Tyr, XP_047286069.1:p.His56Tyr, XP_047286068.1:p.His56Tyr, XP_047286070.1:p.His56Tyr

Select item 146263001412.

rs1462630014 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:43859734 (GRCh38)
13:44433870 (GRCh37)
Canonical SPDI:: NC_000013.11:43859733:T:C
Gene:: CCDC122 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000043/1 (ALFA)
C=0.000021/5 (GnomAD_exomes)
C=0.000038/10 (TOPMED)
C=0.000057/8 (GnomAD)
HGVS:: NC_000013.11:g.43859734T>C, NC_000013.10:g.44433870T>C, NM_144974.5:c.493A>G, NM_144974.4:c.493A>G, NM_144974.3:c.493A>G, XM_017020397.3:c.493A>G, XM_017020397.2:c.493A>G, XM_017020397.1:c.493A>G, XM_024449324.2:c.130A>G, XM_024449324.1:c.130A>G, XM_024449327.2:c.130A>G, XM_024449327.1:c.130A>G, NM_001350617.2:c.130A>G, NM_001350617.1:c.130A>G, NM_001350618.2:c.130A>G, NM_001350618.1:c.130A>G, XM_017020398.2:c.493A>G, XM_017020398.1:c.493A>G, XM_047430113.1:c.493A>G, XM_047430112.1:c.493A>G, XM_047430114.1:c.493A>G, NP_659411.2:p.Met165Val, XP_016875886.1:p.Met165Val, XP_024305092.1:p.Met44Val, XP_024305095.1:p.Met44Val, NP_001337546.1:p.Met44Val, NP_001337547.1:p.Met44Val, XP_016875887.1:p.Met165Val, XP_047286069.1:p.Met165Val, XP_047286068.1:p.Met165Val, XP_047286070.1:p.Met165Val

Select item 145410869713.

rs1454108697 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 13:43859969 (GRCh38)
13:44434105 (GRCh37)
Canonical SPDI:: NC_000013.11:43859968:G:C
Gene:: CCDC122 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.43859969G>C, NC_000013.10:g.44434105G>C, NM_144974.5:c.258C>G, NM_144974.4:c.258C>G, NM_144974.3:c.258C>G, XM_017020397.3:c.258C>G, XM_017020397.2:c.258C>G, XM_017020397.1:c.258C>G, XM_024449324.2:c.-106C>G, XM_024449324.1:c.-106C>G, XM_024449327.2:c.-106C>G, XM_024449327.1:c.-106C>G, NM_001350617.2:c.-106C>G, NM_001350617.1:c.-106C>G, NM_001350618.2:c.-106C>G, NM_001350618.1:c.-106C>G, XM_017020398.2:c.258C>G, XM_017020398.1:c.258C>G, XM_047430113.1:c.258C>G, XM_047430112.1:c.258C>G, XM_047430114.1:c.258C>G

Select item 144937464914.

rs1449374649 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:43859721 (GRCh38)
13:44433857 (GRCh37)
Canonical SPDI:: NC_000013.11:43859720:A:G
Gene:: CCDC122 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.43859721A>G, NC_000013.10:g.44433857A>G, NM_144974.5:c.506T>C, NM_144974.4:c.506T>C, NM_144974.3:c.506T>C, XM_017020397.3:c.506T>C, XM_017020397.2:c.506T>C, XM_017020397.1:c.506T>C, XM_024449324.2:c.143T>C, XM_024449324.1:c.143T>C, XM_024449327.2:c.143T>C, XM_024449327.1:c.143T>C, NM_001350617.2:c.143T>C, NM_001350617.1:c.143T>C, NM_001350618.2:c.143T>C, NM_001350618.1:c.143T>C, XM_017020398.2:c.506T>C, XM_017020398.1:c.506T>C, XM_047430113.1:c.506T>C, XM_047430112.1:c.506T>C, XM_047430114.1:c.506T>C, NP_659411.2:p.Leu169Pro, XP_016875886.1:p.Leu169Pro, XP_024305092.1:p.Leu48Pro, XP_024305095.1:p.Leu48Pro, NP_001337546.1:p.Leu48Pro, NP_001337547.1:p.Leu48Pro, XP_016875887.1:p.Leu169Pro, XP_047286069.1:p.Leu169Pro, XP_047286068.1:p.Leu169Pro, XP_047286070.1:p.Leu169Pro

Select item 144688565715.

rs1446885657 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:43859792 (GRCh38)
13:44433928 (GRCh37)
Canonical SPDI:: NC_000013.11:43859791:T:C
Gene:: CCDC122 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000012/3 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.43859792T>C, NC_000013.10:g.44433928T>C, NM_144974.5:c.435A>G, NM_144974.4:c.435A>G, NM_144974.3:c.435A>G, XM_017020397.3:c.435A>G, XM_017020397.2:c.435A>G, XM_017020397.1:c.435A>G, XM_024449324.2:c.72A>G, XM_024449324.1:c.72A>G, XM_024449327.2:c.72A>G, XM_024449327.1:c.72A>G, NM_001350617.2:c.72A>G, NM_001350617.1:c.72A>G, NM_001350618.2:c.72A>G, NM_001350618.1:c.72A>G, XM_017020398.2:c.435A>G, XM_017020398.1:c.435A>G, XM_047430113.1:c.435A>G, XM_047430112.1:c.435A>G, XM_047430114.1:c.435A>G

Select item 144486982916.

rs1444869829 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 13:43859988 (GRCh38)
13:44434124 (GRCh37)
Canonical SPDI:: NC_000013.11:43859987:T:A
Gene:: CCDC122 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.43859988T>A, NC_000013.10:g.44434124T>A, NM_144974.5:c.239A>T, NM_144974.4:c.239A>T, NM_144974.3:c.239A>T, XM_017020397.3:c.239A>T, XM_017020397.2:c.239A>T, XM_017020397.1:c.239A>T, XM_024449324.2:c.-125A>T, XM_024449324.1:c.-125A>T, XM_024449327.2:c.-125A>T, XM_024449327.1:c.-125A>T, NM_001350617.2:c.-125A>T, NM_001350617.1:c.-125A>T, NM_001350618.2:c.-125A>T, NM_001350618.1:c.-125A>T, XM_017020398.2:c.239A>T, XM_017020398.1:c.239A>T, XM_047430113.1:c.239A>T, XM_047430112.1:c.239A>T, XM_047430114.1:c.239A>T, NP_659411.2:p.Asp80Val, XP_016875886.1:p.Asp80Val, XP_016875887.1:p.Asp80Val, XP_047286069.1:p.Asp80Val, XP_047286068.1:p.Asp80Val, XP_047286070.1:p.Asp80Val

Select item 144189050217.

rs1441890502 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 13:43868771 (GRCh38)
13:44442907 (GRCh37)
Canonical SPDI:: NC_000013.11:43868770:C:A,NC_000013.11:43868770:C:T
Gene:: CCDC122 (Varview)
Functional Consequence:: missense_variant,intron_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000013.11:g.43868771C>A, NC_000013.11:g.43868771C>T, NC_000013.10:g.44442907C>A, NC_000013.10:g.44442907C>T, NM_144974.5:c.79G>T, NM_144974.5:c.79G>A, NM_144974.4:c.79G>T, NM_144974.4:c.79G>A, NM_144974.3:c.79G>T, NM_144974.3:c.79G>A, XM_017020397.3:c.79G>T, XM_017020397.3:c.79G>A, XM_017020397.2:c.79G>T, XM_017020397.2:c.79G>A, XM_017020397.1:c.79G>T, XM_017020397.1:c.79G>A, XM_024449327.2:c.-285G>T, XM_024449327.2:c.-285G>A, XM_024449327.1:c.-285G>T, XM_024449327.1:c.-285G>A, XM_017020398.2:c.79G>T, XM_017020398.2:c.79G>A, XM_017020398.1:c.79G>T, XM_017020398.1:c.79G>A, XM_047430113.1:c.79G>T, XM_047430113.1:c.79G>A, XM_047430112.1:c.79G>T, XM_047430112.1:c.79G>A, XM_047430114.1:c.79G>T, XM_047430114.1:c.79G>A, NP_659411.2:p.Val27Leu, NP_659411.2:p.Val27Ile, XP_016875886.1:p.Val27Leu, XP_016875886.1:p.Val27Ile, XP_016875887.1:p.Val27Leu, XP_016875887.1:p.Val27Ile, XP_047286069.1:p.Val27Leu, XP_047286069.1:p.Val27Ile, XP_047286068.1:p.Val27Leu, XP_047286068.1:p.Val27Ile, XP_047286070.1:p.Val27Leu, XP_047286070.1:p.Val27Ile

Select item 144033412518.

rs1440334125 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:43859993 (GRCh38)
13:44434129 (GRCh37)
Canonical SPDI:: NC_000013.11:43859992:T:C
Gene:: CCDC122 (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000013.11:g.43859993T>C, NC_000013.10:g.44434129T>C, NM_144974.5:c.234A>G, NM_144974.4:c.234A>G, NM_144974.3:c.234A>G, XM_017020397.3:c.234A>G, XM_017020397.2:c.234A>G, XM_017020397.1:c.234A>G, XM_024449324.2:c.-130A>G, XM_024449324.1:c.-130A>G, XM_024449327.2:c.-130A>G, XM_024449327.1:c.-130A>G, NM_001350617.2:c.-130A>G, NM_001350617.1:c.-130A>G, NM_001350618.2:c.-130A>G, NM_001350618.1:c.-130A>G, XM_017020398.2:c.234A>G, XM_017020398.1:c.234A>G, XM_047430113.1:c.234A>G, XM_047430112.1:c.234A>G, XM_047430114.1:c.234A>G

Select item 144027497419.

rs1440274974 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:43859882 (GRCh38)
13:44434018 (GRCh37)
Canonical SPDI:: NC_000013.11:43859881:T:C
Gene:: CCDC122 (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.43859882T>C, NC_000013.10:g.44434018T>C, NM_144974.5:c.345A>G, NM_144974.4:c.345A>G, NM_144974.3:c.345A>G, XM_017020397.3:c.345A>G, XM_017020397.2:c.345A>G, XM_017020397.1:c.345A>G, XM_024449324.2:c.-19A>G, XM_024449324.1:c.-19A>G, XM_024449327.2:c.-19A>G, XM_024449327.1:c.-19A>G, NM_001350617.2:c.-19A>G, NM_001350617.1:c.-19A>G, NM_001350618.2:c.-19A>G, NM_001350618.1:c.-19A>G, XM_017020398.2:c.345A>G, XM_017020398.1:c.345A>G, XM_047430113.1:c.345A>G, XM_047430112.1:c.345A>G, XM_047430114.1:c.345A>G

Select item 142288600720.

rs1422886007 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:43859714 (GRCh38)
13:44433850 (GRCh37)
Canonical SPDI:: NC_000013.11:43859713:T:C
Gene:: CCDC122 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.43859714T>C, NC_000013.10:g.44433850T>C, NM_144974.5:c.513A>G, NM_144974.4:c.513A>G, NM_144974.3:c.513A>G, XM_017020397.3:c.513A>G, XM_017020397.2:c.513A>G, XM_017020397.1:c.513A>G, XM_024449324.2:c.150A>G, XM_024449324.1:c.150A>G, XM_024449327.2:c.150A>G, XM_024449327.1:c.150A>G, NM_001350617.2:c.150A>G, NM_001350617.1:c.150A>G, NM_001350618.2:c.150A>G, NM_001350618.1:c.150A>G, XM_017020398.2:c.513A>G, XM_017020398.1:c.513A>G, XM_047430113.1:c.513A>G, XM_047430112.1:c.513A>G, XM_047430114.1:c.513A>G

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