Product Details

SNP ID
rs918610728
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:154419724 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACCAGGGAAAGTGAACATGAGTTC[C/T]GAATTCCTGCGTTTCAAGTGGGGTA
Phenotype
MIM: 300197 MIM: 300081 MIM: 300394
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ATP6AP1 PubMed Links

Gene Details

Gene
ATP6AP1
Gene Name
ATPase H+ transporting accessory protein 1
There are no transcripts associated with this gene.

Gene
CH17-340M24.3
Gene Name
uncharacterized protein BC009467
There are no transcripts associated with this gene.

Gene
DNASE1L1
Gene Name
deoxyribonuclease I-like 1
There are no transcripts associated with this gene.

Gene
TAZ
Gene Name
tafazzin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000116.4 887 Silent Mutation TCC,TCT S187S NP_000107.1
NM_001303465.1 887 Intron NP_001290394.1
NM_181311.3 887 Silent Mutation TCC,TCT S157S NP_851828.1
NM_181312.3 887 Intron NP_851829.1
NM_181313.3 887 Intron NP_851830.1

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