Product Details

SNP ID

rs11555460

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:56714435 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCTTCATCAATTTCAGCTGCTGCC[A/G]CCAGCTAAGAAGATAAAACAGCTAT

Phenotype

MIM: 601234

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

NACA PubMed Links

Gene Details

Gene

NACA

Gene Name

nascent polypeptide-associated complex alpha subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001113201.2	443	Missense Mutation	GCG,GTG	A54V	NP_001106672.1
NM_001113202.1	443	Missense Mutation	GCG,GTG	A54V	NP_001106673.1
NM_001113203.2	443	Missense Mutation	GCG,GTG	A764V	NP_001106674.2
NM_001320193.1	443	Intron			NP_001307122.1
NM_001320194.1	443	Missense Mutation	GCG,GTG	A54V	NP_001307123.1
NM_005594.5	443	Missense Mutation	GCG,GTG	A54V	NP_005585.1
XM_006719412.1	443	Missense Mutation	GCG,GTG	A1917V	XP_006719475.1
XM_006719413.2	443	Missense Mutation	GCG,GTG	A1917V	XP_006719476.1
XM_006719414.1	443	Missense Mutation	GCG,GTG	A1917V	XP_006719477.1
XM_006719418.1	443	Intron			XP_006719481.1
XM_006719420.3	443	Missense Mutation	GCG,GTG	A54V	XP_006719483.1
XM_011538389.1	443	Missense Mutation	GCG,GTG	A1917V	XP_011536691.1
XM_017019337.1	443	Intron			XP_016874826.1

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