Product Details

SNP ID

rs12062784

Assay Type

Functionally tested

NCBI dbSNP Submissions

56

Location

Chr.1:246570568 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CCTCTGTCAAATATAGTCATGATAG[A/C]CCTGGCACAATGTAGGGACTATGGG

Phenotype

MIM: 613439 MIM: 607055

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

CNST PubMed Links

Gene Details

Gene

CNST

Gene Name

consortin, connexin sorting protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001139459.1		Intron			NP_001132931.1
NM_152609.2		Intron			NP_689822.2
XM_005273081.3		Intron			XP_005273138.2
XM_005273083.4		Intron			XP_005273140.1
XM_011544110.2		Intron			XP_011542412.1
XM_011544111.1		Intron			XP_011542413.1
XM_011544112.1		Intron			XP_011542414.1
XM_011544113.1		Intron			XP_011542415.1
XM_011544114.2		Intron			XP_011542416.1
XM_017000487.1		Intron			XP_016855976.1
XM_017000488.1		Intron			XP_016855977.1
XM_017000489.1		Intron			XP_016855978.1

Gene

TFB2M

Gene Name

transcription factor B2, mitochondrial

There are no transcripts associated with this gene.

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