Product Details

SNP ID

rs200054949

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:3030958 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCTGAGCCAGCTGCTGGCTGAGCC[A/G]GAGGTTCTGCTCGCTGAGCTCGCTG

Phenotype

MIM: 617003 MIM: 615403 MIM: 605914

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

BICDL2 PubMed Links

Gene Details

Gene

BICDL2

Gene Name

BICD family like cargo adaptor 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001103175.1	581	Missense Mutation	CGG,TGG	R159W	NP_001096645.1
XM_005255135.4	581	Missense Mutation	CGG,TGG	R159W	XP_005255192.1
XM_011522391.1	581	Missense Mutation	CGG,TGG	R94W	XP_011520693.1

Gene

HCFC1R1

Gene Name

host cell factor C1 regulator 1

There are no transcripts associated with this gene.

Gene

LOC100128770

Gene Name

uncharacterized LOC100128770

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

There are no transcripts associated with this gene.

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