Product Details

SNP ID

hCV42508927

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.1:158291174 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTCCTTCCATGTCATCCAGATCTT[C/T]TCATTTGTCAACCAATCCTGGGCAC

Phenotype

MIM: 188360 MIM: 188340

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CD1B PubMed Links

Gene Details

Gene

CD1B

Gene Name

CD1b molecule

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001764.2	394	Intron			NP_001755.1

Gene

CD1C

Gene Name

CD1c molecule

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001765.2	394	Silent Mutation	TTC,TTT	F34F	NP_001756.2

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