Product Details

SNP ID

rs202092481

Assay Type

Functionally tested

NCBI dbSNP Submissions

7

Location

Chr.1:158291199 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCATTTGTCAACCAATCCTGGGCA[C/T]GAGGTCAGGGCTCAGGATGGCTGGA

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	419	Intron			NP_001755.1
XM_011510119.2	419	Intron			XP_011508421.1
XM_017002784.1	419	Intron			XP_016858273.1
XM_017002785.1	419	Intron			XP_016858274.1
XM_017002786.1	419	Intron			XP_016858275.1

Gene

CD1C

Gene Name

CD1c molecule

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001765.2	419	Nonsense Mutation	CGA,TGA	R43*	NP_001756.2
XM_005245579.4	419	Nonsense Mutation	CGA,TGA	R43*	XP_005245636.1

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