Product Details

SNP ID

rs143664639

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:7831943 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGCCTGCACATGGTTGGCACGGCC[A/T]AAGTCCCGGTTTAGGGGCTCAATGG

Phenotype

MIM: 103071

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

ADCY2 PubMed Links

Gene Details

Gene

ADCY2

Gene Name

adenylate cyclase 2

There are no transcripts associated with this gene.

Gene

C5orf49

Gene Name

chromosome 5 open reading frame 49

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001089584.2	820	Missense Mutation	TTA,TTT	L117F	NP_001083053.1
XM_011513963.2	820	Missense Mutation	TTA,TTT	L85F	XP_011512265.1

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