Product Details

SNP ID

rs116683698

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:158291176 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCTTCCATGTCATCCAGATCTTCT[C/T]ATTTGTCAACCAATCCTGGGCACGA

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	396	Intron			NP_001755.1
XM_011510119.2	396	Intron			XP_011508421.1
XM_017002784.1	396	Intron			XP_016858273.1
XM_017002785.1	396	Intron			XP_016858274.1
XM_017002786.1	396	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	396	Missense Mutation	TCA,TTA	S35L	NP_001756.2
XM_005245579.4	396	Missense Mutation	TCA,TTA	S35L	XP_005245636.1

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