Product Details

SNP ID

rs144526163

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:84221929 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCATGGCCTGGGTTGTTCAGCTGTT[G/T]TCTTCCGTTCCTCCTTTCTCCTTGT

Phenotype

MIM: 609502 MIM: 616103

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

CDHR1 PubMed Links

Gene Details

Gene

CDHR1

Gene Name

cadherin related family member 1

There are no transcripts associated with this gene.

Gene

LRIT1

Gene Name

leucine rich repeat, Ig-like and transmembrane domains 1

There are no transcripts associated with this gene.

Gene

LRIT2

Gene Name

leucine rich repeat, Ig-like and transmembrane domains 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001017924.3	1713	Missense Mutation	GAA,GAC	E548D	NP_001017924.1
NM_001284223.1	1713	Missense Mutation	GAA,GAC	E558D	NP_001271152.1

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