Product Details

SNP ID

rs2228479

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:89919532 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GGACCTGCTGGTGAGCGGGAGCAAC[A/G]TGCTGGAGACGGCCGTCATCCTCCT

Phenotype

MIM: 155555 MIM: 612326 MIM: 602661

Polymorphism

A/G, 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	1654	Missense Mutation	ATG,GTG	M92V	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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