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TGTTAACTGACAGGTGTTTGAAGGC[A/G]TCTACAACAATTCCAGAATGCTGCA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607931 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ATXN2L PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
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AMR
|
ATXN2L - ataxin 2 like | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001308230.1 | 561 | Missense Mutation | ATC,GTC | I,V 117 | NP_001295159.1 | |
NM_007245.3 | 561 | Missense Mutation | ATC,GTC | I,V 117 | NP_009176.2 | |
NM_017492.3 | 561 | Missense Mutation | ATC,GTC | I,V 117 | NP_059867.3 | |
NM_145714.2 | 561 | Missense Mutation | ATC,GTC | I,V 117 | NP_663760.1 | |
NM_148414.2 | 561 | Missense Mutation | ATC,GTC | I,V 117 | NP_680780.1 | |
NM_148415.2 | 561 | Missense Mutation | ATC,GTC | I,V 117 | NP_680781.1 | |
NM_148416.2 | 561 | Missense Mutation | ATC,GTC | I,V 117 | NP_680782.1 | |
XM_005255061.1 | 561 | Missense Mutation | ATC,GTC | I,V 117 | XP_005255118.1 | |
XM_005255062.1 | 561 | Missense Mutation | ATC,GTC | I,V 117 | XP_005255119.1 | |
XM_005255063.3 | 561 | Missense Mutation | ATC,GTC | I,V 117 | XP_005255120.1 | |
XM_005255064.1 | 561 | Missense Mutation | ATC,GTC | I,V 117 | XP_005255121.1 | |
XM_005255065.1 | 561 | Missense Mutation | ATC,GTC | I,V 117 | XP_005255122.1 | |
XM_005255066.1 | 561 | Missense Mutation | ATC,GTC | I,V 117 | XP_005255123.1 | |
XM_005255067.1 | 561 | Missense Mutation | ATC,GTC | I,V 117 | XP_005255124.1 | |
XM_005255068.1 | 561 | Missense Mutation | ATC,GTC | I,V 117 | XP_005255125.1 | |
XM_005255069.1 | 561 | Missense Mutation | ATC,GTC | I,V 117 | XP_005255126.1 | |
XM_005255070.1 | 561 | Missense Mutation | ATC,GTC | I,V 117 | XP_005255127.1 | |
XM_005255071.1 | 561 | Missense Mutation | ATC,GTC | I,V 117 | XP_005255128.1 | |
XM_005255074.1 | 561 | Missense Mutation | ATC,GTC | I,V 117 | XP_005255131.1 | |
XM_005255075.1 | 561 | Missense Mutation | ATC,GTC | I,V 117 | XP_005255132.1 | |
XM_005255076.1 | 561 | Missense Mutation | ATC,GTC | I,V 117 | XP_005255133.1 | |
XM_005255077.1 | 561 | Missense Mutation | ATC,GTC | I,V 57 | XP_005255134.1 | |
XM_006721007.1 | 561 | Missense Mutation | ATC,GTC | I,V 117 | XP_006721070.1 | |
XM_006721008.1 | 561 | Missense Mutation | ATC,GTC | I,V 117 | XP_006721071.1 | |
XM_006721009.1 | 561 | Missense Mutation | ATC,GTC | I,V 117 | XP_006721072.1 | |
XM_006721010.2 | 561 | Missense Mutation | ATC,GTC | I,V 117 | XP_006721073.1 | |
XM_006721011.1 | 561 | Missense Mutation | ATC,GTC | I,V 117 | XP_006721074.1 | |
XM_006721012.3 | 561 | Intron | XP_006721075.1 | |||
XM_011545719.2 | 561 | Missense Mutation | ATC,GTC | I,V 117 | XP_011544021.1 | |
XM_011545721.2 | 561 | Missense Mutation | ATC,GTC | I,V 117 | XP_011544023.1 | |
XM_011545722.1 | 561 | Intron | XP_011544024.1 | |||
XM_017022891.1 | 561 | Missense Mutation | ATC,GTC | I,V 57 | XP_016878380.1 | |
XM_017022892.1 | 561 | Intron | XP_016878381.1 |