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GCCAGGCCCCACCTTATAGGCTTGC[C/T]GCACCCCTCCGTTGTCAGCAATGTT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
9 submissions
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Phenotype: |
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Literature Links: |
FAM213B 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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FAM213B - family with sequence similarity 213 member B | ||||||
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There are no transcripts associated with this gene. |
LOC100996583 - uncharacterized LOC100996583 | ||||||
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There are no transcripts associated with this gene. |
MMEL1 - membrane metallo-endopeptidase-like 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_033467.3 | 2534 | Missense Mutation | CAG,CGG | Q,R 685 | NP_258428.2 | |
XM_011542122.2 | 2534 | Missense Mutation | CAG,CGG | Q,R 428 | XP_011540424.1 | |
XM_017002310.1 | 2534 | Missense Mutation | CAG,CGG | Q,R 685 | XP_016857799.1 | |
XM_017002311.1 | 2534 | Missense Mutation | CAG,CGG | Q,R 667 | XP_016857800.1 | |
XM_017002312.1 | 2534 | Missense Mutation | CAG,CGG | Q,R 659 | XP_016857801.1 | |
XM_017002313.1 | 2534 | Missense Mutation | CAG,CGG | Q,R 685 | XP_016857802.1 | |
XM_017002314.1 | 2534 | Missense Mutation | CAG,CGG | Q,R 642 | XP_016857803.1 | |
XM_017002315.1 | 2534 | Missense Mutation | CAG,CGG | Q,R 581 | XP_016857804.1 |