Product Details

SNP ID

rs138220875

Assay Type

Functionally tested

NCBI dbSNP Submissions

9

Location

Chr.1:44823290 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACCAGCAAGCATGAGCAGACCCAG[C/G]AATGTGGAGATGGCCCCATCGGTCA

Phenotype

MIM: 603673

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

BTBD19 PubMed Links

Gene Details

Gene

BTBD19

Gene Name

BTB domain containing 19

There are no transcripts associated with this gene.

Gene

PTCH2

Gene Name

patched 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001166292.1	3222	Missense Mutation	TTC,TTG	F1070L	NP_001159764.1
NM_003738.4	3222	Missense Mutation	TTC,TTG	F1070L	NP_003729.3

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