Product Details

SNP ID

rs200526690

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:77425622 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TACATGATTTTCTCTTCCAAAAGAT[C/G]CTTCTTGTTCAAGAATAAAATCACA

Phenotype

MIM: 604397 MIM: 605978

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

GNA14 PubMed Links

Gene Details

Gene

GNA14

Gene Name

G protein subunit alpha 14

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004297.3	1340	Missense Mutation	CAT,GAT	H273D	NP_004288.1
XM_011519224.1	1340	Missense Mutation	CAT,GAT	H155D	XP_011517526.1
XM_017015341.1	1340	Missense Mutation	CAT,GAT	H219D	XP_016870830.1

Gene

VPS13A

Gene Name

vacuolar protein sorting 13 homolog A

There are no transcripts associated with this gene.

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