Product Details

SNP ID

rs185922526

Assay Type

Functionally tested

NCBI dbSNP Submissions

6

Location

Chr.1:44810270 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGAGGTATTTGCCCATCGGTGCTT[C/G]TTGGCCTGTAGATGCAACTTCTTCC

Phenotype

MIM: 602913 MIM: 603673 MIM: 611713

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

BTBD19 PubMed Links

Gene Details

Gene

BTBD19

Gene Name

BTB domain containing 19

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001136537.1	483	Missense Mutation	TTC,TTG	F48L	NP_001130009.1
XM_006710386.3	483	Missense Mutation	TTC,TTG	F48L	XP_006710449.1
XM_011540803.2	483	Missense Mutation	TTC,TTG	F48L	XP_011539105.1
XM_011540805.2	483	Missense Mutation	TTC,TTG	F48L	XP_011539107.1
XM_017000447.1	483	Missense Mutation	TTC,TTG	F48L	XP_016855936.1
XM_017000448.1	483	Missense Mutation	TTC,TTG	F48L	XP_016855937.1
XM_017000449.1	483	Missense Mutation	TTC,TTG	F48L	XP_016855938.1

Gene

PLK3

Gene Name

polo like kinase 3

There are no transcripts associated with this gene.

Gene

PTCH2

Gene Name

patched 2

There are no transcripts associated with this gene.

Gene

TCTEX1D4

Gene Name

Tctex1 domain containing 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001013632.3	483	Intron			NP_001013654.1

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