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CCCCAGGGCCCCTGAGATTCTGGTG[C/T]GCAGTGGCCACAACCGGGCTGTGGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 613368 MIM: 609849 MIM: 601577 MIM: 608939 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CARNS1 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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CARNS1 - carnosine synthase 1 | ||||||
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There are no transcripts associated with this gene. |
CORO1B - coronin 1B | ||||||
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There are no transcripts associated with this gene. |
PTPRCAP - protein tyrosine phosphatase, receptor type C associated protein | ||||||
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There are no transcripts associated with this gene. |
RPS6KB2 - ribosomal protein S6 kinase B2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_003952.2 | 757 | Missense Mutation | CGC,TGC | R,C 243 | NP_003943.2 | |
XM_005274164.1 | 757 | Missense Mutation | CGC,TGC | R,C 146 | XP_005274221.1 | |
XM_005274165.4 | 757 | Missense Mutation | CGC,TGC | R,C 43 | XP_005274222.1 | |
XM_006718655.3 | 757 | Missense Mutation | CGC,TGC | R,C 43 | XP_006718718.1 | |
XM_006718656.3 | 757 | Missense Mutation | CGC,TGC | R,C 43 | XP_006718719.1 | |
XM_006718657.1 | 757 | Missense Mutation | CGC,TGC | R,C 43 | XP_006718720.1 | |
XM_017018108.1 | 757 | Missense Mutation | CGC,TGC | R,C 43 | XP_016873597.1 |