Product Details

SNP ID

rs141562335

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:45500374 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGAGCTGAAGCAGAAGATCGAGGA[C/T]ACGCTATGTCCTTTTGGCTTCGAGG

Phenotype

MIM: 609831 MIM: 604746

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CCDC163P PubMed Links

Gene Details

Gene

CCDC163P

Gene Name

coiled-coil domain containing 163, pseudogene

There are no transcripts associated with this gene.

Gene

MMACHC

Gene Name

methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015506.2	49	Silent Mutation	GAC,GAT	D14D	NP_056321.2
XM_005270724.4	49	Silent Mutation	GAC,GAT	D14D	XP_005270781.1
XM_011541204.2	49	UTR 5			XP_011539506.1

Gene

TESK2

Gene Name

testis-specific kinase 2

There are no transcripts associated with this gene.

View Full Product Details