Product Details

SNP ID

rs11549522

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:75848573 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTAATCTTCGGAGCCTGGATACCTT[G/T]AGATGCCACCTGGAGCATCCGCTGT

Phenotype

MIM: 608897 MIM: 606962

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

UNC13D PubMed Links

Gene Details

Gene

UNC13D

Gene Name

unc-13 homolog D

There are no transcripts associated with this gene.

Gene

WBP2

Gene Name

WW domain binding protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_012478.3	438	Missense Mutation	AAA,CAA	K132Q	NP_036610.2
XM_011524580.2	438	Missense Mutation	AAA,CAA	K132Q	XP_011522882.1

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