Product Details

SNP ID

rs147670794

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:127611954 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCTCCTCCCGAGTACCTGTGCAGA[A/G]ATGATTCCTGGGGCAACCCTTGGTA

Phenotype

MIM: 167413

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PAX4 PubMed Links

Gene Details

Gene

PAX4

Gene Name

paired box 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006193.2	944	Silent Mutation	ATC,ATT	I246I	NP_006184.2
XM_011516276.2	944	Silent Mutation	ATC,ATT	I254I	XP_011514578.1

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