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AAGATAGGGGTCCATTAGATCCTCA[A/G]TGAGGTGTACCTCAGAGCCTAAATT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606352 MIM: 606575 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ALS2 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
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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ALS2 - ALS2, alsin Rho guanine nucleotide exchange factor | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001135745.1 | 4519 | Intron | NP_001129217.1 | |||
NM_020919.3 | 4519 | Missense Mutation | ACT,ATT | T,I 1624 | NP_065970.2 | |
XM_006712654.2 | 4519 | Missense Mutation | ACT,ATT | T,I 1624 | XP_006712717.1 | |
XM_006712655.3 | 4519 | Missense Mutation | ACT,ATT | T,I 936 | XP_006712718.1 | |
XM_011511530.2 | 4519 | Missense Mutation | ACT,ATT | T,I 1511 | XP_011509832.1 | |
XM_017004569.1 | 4519 | Missense Mutation | ACT,ATT | T,I 1623 | XP_016860058.1 | |
XM_017004570.1 | 4519 | Intron | XP_016860059.1 | |||
XM_017004571.1 | 4519 | Missense Mutation | ACT,ATT | T,I 935 | XP_016860060.1 | |
XM_017004572.1 | 4519 | Missense Mutation | ACT,ATT | T,I 830 | XP_016860061.1 |
MPP4 - membrane palmitoylated protein 4 | ||||||
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There are no transcripts associated with this gene. |