Product Details

SNP ID

rs12074017

Assay Type

Functionally tested

NCBI dbSNP Submissions

13

Location

Chr.1:38887945 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GTAAACTAATTTCTATTTTATAAAA[C/G]AAAGAAACTGAACTCACCGGAGACC

Phenotype

MIM: 611923 MIM: 608962

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

GJA9 PubMed Links

Gene Details

Gene

GJA9

Gene Name

gap junction protein alpha 9

There are no transcripts associated with this gene.

Gene

GJA9-MYCBP

Gene Name

GJA9-MYCBP readthrough

There are no transcripts associated with this gene.

Gene

RHBDL2

Gene Name

rhomboid like 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001304746.1		Intron			NP_001291675.1
NM_017821.4		Intron			NP_060291.2

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