Product Details

SNP ID
rs57751039
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:6407791 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGATATCCACTAGAACAGGGGTCC[A/G]CTCACTATGCCCCCCAGGCCATATC
Phenotype
MIM: 607117
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
LOC100287015 PubMed Links

Gene Details

Gene
LOC100287015
Gene Name
uncharacterized LOC100287015
There are no transcripts associated with this gene.

Gene
MCPH1
Gene Name
microcephalin 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001172574.1 Intron NP_001166045.1
NM_001172575.1 Intron NP_001166046.1
NM_001322042.1 Intron NP_001308971.1
NM_001322043.1 Intron NP_001308972.1
NM_001322045.1 Intron NP_001308974.1
NM_024596.4 Intron NP_078872.2
XM_011534755.2 Intron XP_011533057.1
XM_011534756.2 Intron XP_011533058.1
XM_011534757.2 Intron XP_011533059.1
XM_011534758.2 Intron XP_011533060.1
XM_011534759.2 Intron XP_011533061.1
XM_011534760.2 Intron XP_011533062.1
XM_017013829.1 Intron XP_016869318.1
XM_017013830.1 Intron XP_016869319.1
XM_017013831.1 Intron XP_016869320.1
XM_017013832.1 Intron XP_016869321.1
XM_017013833.1 Intron XP_016869322.1
XM_017013834.1 Intron XP_016869323.1

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