Product Details

SNP ID
rs146417813
Assay Type
Functionally tested
NCBI dbSNP Submissions
20
Location
Chr.1:246843811 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATTTCTTACCAGTTCATCTTCAAGC[C/T]TGTTCTTATTGGATGTGTTTTTTTG
Phenotype
MIM: 610853
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
AHCTF1 PubMed Links

Gene Details

Gene
AHCTF1
Gene Name
AT-hook containing transcription factor 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001323342.1 6917 Missense Mutation AAG,AGG K2170R NP_001310271.1
NM_001323343.1 6917 Missense Mutation AAG,AGG K2170R NP_001310272.1
NM_015446.4 6917 Intron NP_056261.4
XM_006711758.1 6917 Intron XP_006711821.1
XM_011544156.2 6917 Intron XP_011542458.2
XM_011544157.2 6917 Intron XP_011542459.2

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