Product Details

SNP ID

rs17850976

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:65113526 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTACGACTTTTTTCTGGGACGAGAG[C/G]TCAACCCTCGTATCTGTTTCTTCGA

Phenotype

MIM: 134690 MIM: 606866 MIM: 603414 MIM: 615738 MIM: 604575

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

FAU PubMed Links

Gene Details

Gene

FAU

Gene Name

FAU, ubiquitin like and ribosomal protein S30 fusion

There are no transcripts associated with this gene.

Gene

MRPL49

Gene Name

mitochondrial ribosomal protein L49

There are no transcripts associated with this gene.

Gene

TM7SF2

Gene Name

transmembrane 7 superfamily member 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001277233.1	697	Missense Mutation	CTC,GTC	L179V	NP_001264162.1
NM_003273.3	697	Missense Mutation	CTC,GTC	L179V	NP_003264.2

Gene

VPS51

Gene Name

VPS51, GARP complex subunit

There are no transcripts associated with this gene.

Gene

ZNHIT2

Gene Name

zinc finger HIT-type containing 2

There are no transcripts associated with this gene.

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