Product Details

SNP ID

rs117556162

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:67646903 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAAGCATCTCCTTCTCACCCAGGAC[A/G]TGGACACCATTTACCATCGCCAGGG

Phenotype

MIM: 610859 MIM: 604167

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CARMIL2 PubMed Links

Gene Details

Gene

CARMIL2

Gene Name

capping protein regulator and myosin 1 linker 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001013838.1	784	Missense Mutation	ATG,GTG	M181V	NP_001013860.1
NM_001317026.1	784	Missense Mutation	ATG,GTG	M181V	NP_001303955.1
XM_011522874.1	784	Missense Mutation	ATG,GTG	M181V	XP_011521176.1
XM_011522875.2	784	Missense Mutation	ATG,GTG	M181V	XP_011521177.2
XM_017022953.1	784	Missense Mutation	ATG,GTG	M181V	XP_016878442.1

Gene

CTCF

Gene Name

CCCTC-binding factor

There are no transcripts associated with this gene.

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