Product Details

SNP ID

rs149329231

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:24821585 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTGAGCGTATCCTTCATGGCCAGC[A/G]CGAAGTCGGCCAGGTCAGCCAGGTG

Phenotype

MIM: 600291 MIM: 611504

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ADCY3 PubMed Links

Gene Details

Gene

ADCY3

Gene Name

adenylate cyclase 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001320613.1	3644	Missense Mutation	GCG,GTG	A1021V	NP_001307542.1
NM_004036.4	3644	Missense Mutation	GCG,GTG	A1020V	NP_004027.2
XM_006711925.1	3644	Missense Mutation	GCG,GTG	A1043V	XP_006711988.1
XM_011532489.1	3644	Missense Mutation	GCG,GTG	A1062V	XP_011530791.1
XM_011532490.1	3644	Missense Mutation	GCG,GTG	A1061V	XP_011530792.1
XM_011532491.1	3644	Missense Mutation	GCG,GTG	A1040V	XP_011530793.1
XM_011532492.2	3644	Missense Mutation	GCG,GTG	A1062V	XP_011530794.1
XM_011532493.1	3644	Missense Mutation	GCG,GTG	A1016V	XP_011530795.1
XM_011532494.1	3644	Missense Mutation	GCG,GTG	A996V	XP_011530796.1
XM_011532496.1	3644	Missense Mutation	GCG,GTG	A821V	XP_011530798.1
XM_017003186.1	3644	Missense Mutation	GCG,GTG	A1042V	XP_016858675.1
XM_017003187.1	3644	Missense Mutation	GCG,GTG	A1039V	XP_016858676.1
XM_017003188.1	3644	Missense Mutation	GCG,GTG	A1061V	XP_016858677.1
XM_017003189.1	3644	Missense Mutation	GCG,GTG	A1015V	XP_016858678.1
XM_017003190.1	3644	Missense Mutation	GCG,GTG	A974V	XP_016858679.1
XM_017003191.1	3644	Missense Mutation	GCG,GTG	A850V	XP_016858680.1
XM_017003192.1	3644	Missense Mutation	GCG,GTG	A780V	XP_016858681.1
XM_017003193.1	3644	Missense Mutation	GCG,GTG	A779V	XP_016858682.1

Gene

CENPO

Gene Name

centromere protein O

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001199803.2	3644	UTR 3			NP_001186732.1
NM_001322101.1	3644	UTR 3			NP_001309030.1
NM_024322.3	3644	UTR 3			NP_077298.1

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