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GTAGCTACATTTGTCTACCGCTTGA[A/G]CCACCAGCGTCTGAAACCTGGACCG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 601280 MIM: 604889 | ||||||||||||||||||||
Literature Links: |
MAB21L1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
MAB21L1 - mab-21 like 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_005584.4 | 967 | Missense Mutation | GCT,GTT | A,V 137 | NP_005575.1 |
NBEA - neurobeachin | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001204197.1 | 967 | Intron | NP_001191126.1 | |||
NM_015678.4 | 967 | Intron | NP_056493.3 | |||
XM_005266346.4 | 967 | Intron | XP_005266403.1 | |||
XM_005266347.4 | 967 | Intron | XP_005266404.2 | |||
XM_005266348.4 | 967 | Intron | XP_005266405.2 | |||
XM_006719803.3 | 967 | Intron | XP_006719866.1 | |||
XM_006719805.3 | 967 | Intron | XP_006719868.1 | |||
XM_006719806.3 | 967 | Intron | XP_006719869.1 | |||
XM_011535046.2 | 967 | Intron | XP_011533348.1 | |||
XM_011535047.2 | 967 | Intron | XP_011533349.1 | |||
XM_017020544.1 | 967 | Intron | XP_016876033.1 | |||
XM_017020545.1 | 967 | Intron | XP_016876034.1 | |||
XM_017020546.1 | 967 | Intron | XP_016876035.1 |