Product Details

SNP ID

rs117952179

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:89919428 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGCTGGTGAGCTTGGTGGAGAACG[C/T]GCTGGTGGTGGCCACCATCGCCAAG

Phenotype

MIM: 155555 MIM: 612326 MIM: 602661

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MC1R PubMed Links

Gene Details

Gene

MC1R

Gene Name

melanocortin 1 receptor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002386.3	1550	Missense Mutation	GCG,GTG	A57V	NP_002377.4

Gene

TCF25

Gene Name

transcription factor 25

There are no transcripts associated with this gene.

Gene

TUBB3

Gene Name

tubulin beta 3 class III

There are no transcripts associated with this gene.

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