Product Details

SNP ID

rs17844245

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:140795310 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GGTGATCGTGGACAGGCCGCTGCAG[G/T]TTTTCCATGTGGAAGTGGAGGTGAA

Phenotype

MIM: 606307 MIM: 606308 MIM: 606309

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

PCDHA1 PubMed Links

Gene Details

Gene

PCDHA1

Gene Name

protocadherin alpha 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018900.3	452	Intron			NP_061723.1
NM_031410.2	452	Intron			NP_113598.1
NM_031411.2	452	Intron			NP_113599.1

Gene

PCDHA2

Gene Name

protocadherin alpha 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018905.2	452	Missense Mutation	GTT,TTT	V116F	NP_061728.1
NM_031495.1	452	Missense Mutation	GTT,TTT	V116F	NP_113683.1
NM_031496.1	452	Missense Mutation	GTT,TTT	V116F	NP_113684.1

Gene

PCDHA3

Gene Name

protocadherin alpha 3

There are no transcripts associated with this gene.

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