Product Details

SNP ID

rs1127390

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.16:80976176 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

TCCCTGCTCTTGGTCCTGTTTTCTA[C/T]GTACTGAAAAATAAAAGAAGGGGGG

Phenotype

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CMC2 PubMed Links

Gene Details

Gene

CMC2

Gene Name

C-X9-C motif containing 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020188.3	439	Missense Mutation	ATA,GTA	I53V	NP_064573.1
XM_017023461.1	439	Missense Mutation	ATA,GTA	I179V	XP_016878950.1
XM_017023462.1	439	UTR 3			XP_016878951.1
XM_017023463.1	439	Intron			XP_016878952.1
XM_017023464.1	439	Missense Mutation	ATA,GTA	I136V	XP_016878953.1
XM_017023465.1	439	UTR 3			XP_016878954.1
XM_017023466.1	439	Missense Mutation	CAT,CGT	H97R	XP_016878955.1
XM_017023467.1	439	Missense Mutation	ATA,GTA	I53V	XP_016878956.1
XM_017023468.1	439	Missense Mutation	ATA,GTA	I53V	XP_016878957.1
XM_017023469.1	439	Missense Mutation	ATA,GTA	I53V	XP_016878958.1
XM_017023470.1	439	Missense Mutation	ATA,GTA	I53V	XP_016878959.1

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