Product Details

SNP ID

rs140900292

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:39201018 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAATGCGAACATGAGGCTCCGAGAG[G/T]TGAAGGCATAGCGTGGGTTTTGAAG

Phenotype

MIM: 114207 MIM: 180466

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

CACNB1 PubMed Links

Gene Details

Gene

CACNB1

Gene Name

calcium voltage-gated channel auxiliary subunit beta 1

There are no transcripts associated with this gene.

Gene

RPL19

Gene Name

ribosomal protein L19

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000981.3		Intron			NP_000972.1
XM_005257564.3		Intron			XP_005257621.1

Gene

STAC2

Gene Name

SH3 and cysteine rich domain 2

There are no transcripts associated with this gene.

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