Product Details

SNP ID

rs112750587

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:69316109 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCATGCGGTGGAGTACTTCCTCCA[C/T]GCTATCAAGTGTGAGTCACACGAGG

Phenotype

MIM: 600027 MIM: 609982

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

SNTB2 PubMed Links

Gene Details

Gene

SNTB2

Gene Name

syntrophin beta 2

There are no transcripts associated with this gene.

Gene

VPS4A

Gene Name

vacuolar protein sorting 4 homolog A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_013245.2	251	Silent Mutation	CAC,CAT	H41H	NP_037377.1

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