Product Details

SNP ID

rs199627116

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:75258817 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCAAAGAGTATCGGCCAGCTGGTAA[C/T]GTTGGATGTAAATCACTTTTCCTTT

Phenotype

MIM: 611028

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

TMEM30A PubMed Links

Gene Details

Gene

TMEM30A

Gene Name

transmembrane protein 30A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001143958.1	1025	Silent Mutation	ACA,ACG	T249T	NP_001137430.1
NM_018247.3	1025	Silent Mutation	ACA,ACG	T285T	NP_060717.1

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