Product Details

SNP ID
rs55749855
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:114403248 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTGACAATCCTAGGCAGGGGCTGG[C/T]GGGTGTTGGCGCCACCCTCGATGGC
Phenotype
MIM: 605729 MIM: 607928
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
AKNA PubMed Links

Gene Details

Gene
AKNA
Gene Name
AT-hook transcription factor
There are no transcripts associated with this gene.

Gene
WHRN
Gene Name
whirlin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001083885.2 3251 Missense Mutation CAC,CGC H454R NP_001077354.2
NM_001173425.1 3251 Missense Mutation CAC,CGC H836R NP_001166896.1
NM_015404.3 3251 Missense Mutation CAC,CGC H837R NP_056219.3
XM_011518484.1 3251 Missense Mutation CAC,CGC H848R XP_011516786.1
XM_011518485.1 3251 Missense Mutation CAC,CGC H848R XP_011516787.1
XM_011518486.1 3251 Missense Mutation CAC,CGC H847R XP_011516788.1
XM_011518487.1 3251 Missense Mutation CAC,CGC H806R XP_011516789.1
XM_011518488.1 3251 Missense Mutation CAC,CGC H767R XP_011516790.1
XM_011518489.2 3251 Intron XP_011516791.1
XM_011518491.2 3251 Intron XP_011516793.1
XM_011518492.1 3251 Intron XP_011516794.1
XM_011518494.2 3251 Intron XP_011516796.1
XM_011518495.1 3251 Missense Mutation CAC,CGC H407R XP_011516797.1

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