Product Details

SNP ID

rs142187073

Assay Type

Functionally tested

NCBI dbSNP Submissions

17

Location

Chr.1:44823316 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATGTGGAGATGGCCCCATCGGTCA[C/T]GGGGGCAAATGTGTGCTCAAGGGCA

Phenotype

MIM: 603673

Polymorphism

C/T, Transition 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	3196	Missense Mutation	ATG,GTG	M1062V	NP_001159764.1
NM_003738.4	3196	Missense Mutation	ATG,GTG	M1062V	NP_003729.3

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