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GCTGGTGATCGCCGAGAAGGGCCTG[A/G]TGTGCGAGGAGCGGGACGTGAGCCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
GDAP1L1 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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GDAP1L1 - ganglioside induced differentiation associated protein 1 like 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001256737.1 | 135 | Missense Mutation | ATG,GTG | M,V 71 | NP_001243666.1 | |
NM_001256738.1 | 135 | UTR 5 | NP_001243667.1 | |||
NM_001256739.1 | 135 | Missense Mutation | ATG,GTG | M,V 71 | NP_001243668.1 | |
NM_001256740.1 | 135 | Missense Mutation | ATG,GTG | M,V 71 | NP_001243669.1 | |
NM_024034.4 | 135 | Missense Mutation | ATG,GTG | M,V 71 | NP_076939.3 |