Product Details

SNP ID

rs7148305

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:70369879 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCGTTCAATTTTCAAAACTTTGAA[A/C]GTAATAATTTAGGTAGTAGGAACAT

Phenotype

MIM: 609411

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

SYNJ2BP PubMed Links

Gene Details

Gene

SYNJ2BP

Gene Name

synaptojanin 2 binding protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018373.2	3677	UTR 3			NP_060843.2

Gene

SYNJ2BP-COX16

Gene Name

SYNJ2BP-COX16 readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001202547.2	3677	Intron			NP_001189476.1
NM_001202548.2	3677	Intron			NP_001189477.1
NM_001202549.2	3677	Intron			NP_001189478.1

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