Product Details

SNP ID

rs181233313

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:3021576 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAGGCGCTGCAGCACCTCCTGCCC[C/T]CTTCCGGCTGCTTTGGCCCATCCTT

Phenotype

MIM: 617003 MIM: 615798 MIM: 615799 MIM: 615403 MIM: 605914

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

BICDL2 PubMed Links

Gene Details

Gene

BICDL2

Gene Name

BICD family like cargo adaptor 2

There are no transcripts associated with this gene.

Gene

CLDN6

Gene Name

claudin 6

There are no transcripts associated with this gene.

Gene

CLDN9

Gene Name

claudin 9

There are no transcripts associated with this gene.

Gene

HCFC1R1

Gene Name

host cell factor C1 regulator 1

There are no transcripts associated with this gene.

Gene

THOC6

Gene Name

THO complex 6

There are no transcripts associated with this gene.

Gene

TNFRSF12A

Gene Name

TNF receptor superfamily member 12A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016639.2	307	Missense Mutation	CCC,CTC	P74L	NP_057723.1

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