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SNP ID

rs17844278

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:140808134 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTGACTTTGAAGAAAGCAAATCCT[A/G]TGAAATTATTGTAGAGGGCATTGAT

Phenotype

MIM: 606307 MIM: 606308 MIM: 606309 MIM: 606310

Polymorphism

A/G, Transition 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	1061	Intron			NP_061723.1
NM_031410.2	1061	Intron			NP_113598.1
NM_031411.2	1061	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	1061	Intron			NP_061728.1
NM_031495.1	1061	Intron			NP_113683.1
NM_031496.1	1061	Intron			NP_113684.1

Gene

PCDHA3

Gene Name

protocadherin alpha 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018906.2	1061	Intron			NP_061729.1
NM_031497.1	1061	Intron			NP_113685.1

Gene

PCDHA4

Gene Name

protocadherin alpha 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018907.3	1061	Missense Mutation	TAT,TGT	Y316C	NP_061730.1
NM_031500.2	1061	Missense Mutation	TAT,TGT	Y316C	NP_113688.1

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