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SNP ID: rs142069372
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.20:3147335 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: AGATCGGGTATGAGGCAAAATCATA[C/T]GGTGCTTGACGTACTGGGGCCCCCC
Phenotype: MIM: 614272
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: FASTKD5 PubMed Links

Gene Details

Gene: FASTKD5
Gene Name: FAST kinase domains 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_021826.4	2047	Missense Mutation	CAT,CGT	H579R	NP_068598.1

Gene: UBOX5
Gene Name: U-box domain containing 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001267584.1	2047	Intron			NP_001254513.1
NM_014948.3	2047	Intron			NP_055763.1
NM_199415.2	2047	Intron			NP_955447.1

Gene: UBOX5-AS1
Gene Name: UBOX5 antisense RNA 1

There are no transcripts associated with this gene.

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