Product Details

SNP ID

rs8192462

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:127868470 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TTCAAGAGCCGCTGGGTCATGGTCT[C/G]AGGGCCTGCGTCCACATACAGCAGC

Phenotype

MIM: 103000

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

AK1 PubMed Links

Gene Details

Gene

AK1

Gene Name

adenylate kinase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000476.2	867	Missense Mutation	CAG,GAG	Q123E	NP_000467.1
NM_001318121.1	867	Missense Mutation	CAG,GAG	Q123E	NP_001305050.1
NM_001318122.1	867	Missense Mutation	CAG,GAG	Q139E	NP_001305051.1
XM_017014427.1	867	Missense Mutation	CAG,GAG	Q123E	XP_016869916.1
XM_017014428.1	867	Missense Mutation	CAG,GAG	Q123E	XP_016869917.1

Gene

MIR4672

Gene Name

microRNA 4672

There are no transcripts associated with this gene.

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