Product Details

SNP ID

rs74930840

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:3024164 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGACACCACTTCTTAATGTCGGGG[A/G]TCTTCGCGGCGCTCACCTCGGCTCC

Phenotype

MIM: 617003 MIM: 615798 MIM: 615799 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

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001002017.2	134	UTR 5			NP_001002017.1
NM_001002018.2	134	Intron			NP_001002018.1
NM_001288665.1	134	Intron			NP_001275594.1
NM_001288666.1	134	Intron			NP_001275595.1
NM_001288667.1	134	UTR 5			NP_001275596.1
NM_001288668.1	134	Intron			NP_001275597.1
NM_001308070.1	134	Intron			NP_001294999.1
NM_017885.3	134	UTR 5			NP_060355.1
XM_011522559.2	134	Intron			XP_011520861.1
XM_017023384.1	134	Intron			XP_016878873.1

Gene

LOC100128770

Gene Name

uncharacterized LOC100128770

There are no transcripts associated with this gene.

Gene

THOC6

Gene Name

THO complex 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001142350.1	134	UTR 5			NP_001135822.1
NM_024339.3	134	UTR 5			NP_077315.2

Gene

TNFRSF12A

Gene Name

TNF receptor superfamily member 12A

There are no transcripts associated with this gene.

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