Product Details

SNP ID

rs767409395

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:80104704 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTCCATGATTTCCTGCTGGTTCCC[C/T]GAGAGCTGAGTGGCTCCTCCCCAGT

Phenotype

MIM: 613799 MIM: 606800

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CCDC40 PubMed Links

Gene Details

Gene

CCDC40

Gene Name

coiled-coil domain containing 40

There are no transcripts associated with this gene.

Gene

GAA

Gene Name

glucosidase alpha, acid

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000152.4	356	Nonsense Mutation	CGA,TGA	R40*	NP_000143.2
NM_001079803.2	356	Nonsense Mutation	CGA,TGA	R40*	NP_001073271.1
NM_001079804.2	356	Nonsense Mutation	CGA,TGA	R40*	NP_001073272.1
XM_005257193.2	356	Nonsense Mutation	CGA,TGA	R40*	XP_005257250.1
XM_005257194.4	356	Nonsense Mutation	CGA,TGA	R40*	XP_005257251.1

Gene

MIR1268B

Gene Name

microRNA 1268b

There are no transcripts associated with this gene.

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