Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GGGAGGATGAGGTTTCTCAGCATGT[C/T]GAAGGAGTTGCCGTCCGGGTGCACA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609018 MIM: 600892 | ||||||||||||||||||||
Literature Links: |
HLCS 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 |
HLCS - holocarboxylase synthetase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000411.6 | 2459 | Missense Mutation | AAC,GAC | N,D 715 | NP_000402.3 | |
NM_001242784.1 | 2459 | Missense Mutation | AAC,GAC | N,D 715 | NP_001229713.1 | |
NM_001242785.1 | 2459 | Missense Mutation | AAC,GAC | N,D 715 | NP_001229714.1 | |
XM_005260953.3 | 2459 | Missense Mutation | AAC,GAC | N,D 862 | XP_005261010.1 | |
XM_005260955.3 | 2459 | Missense Mutation | AAC,GAC | N,D 715 | XP_005261012.1 | |
XM_005260956.3 | 2459 | Missense Mutation | AAC,GAC | N,D 715 | XP_005261013.1 | |
XM_006723994.2 | 2459 | Missense Mutation | AAC,GAC | N,D 715 | XP_006724057.1 | |
XM_006723995.1 | 2459 | Missense Mutation | AAC,GAC | N,D 715 | XP_006724058.1 | |
XM_011529538.1 | 2459 | Missense Mutation | AAC,GAC | N,D 715 | XP_011527840.1 | |
XM_011529539.2 | 2459 | Missense Mutation | AAC,GAC | N,D 715 | XP_011527841.1 | |
XM_011529540.2 | 2459 | Intron | XP_011527842.1 | |||
XM_011529541.2 | 2459 | Missense Mutation | AAC,GAC | N,D 715 | XP_011527843.1 | |
XM_017028330.1 | 2459 | Missense Mutation | AAC,GAC | N,D 715 | XP_016883819.1 |
SIM2 - single-minded family bHLH transcription factor 2 | ||||||
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There are no transcripts associated with this gene. |