Product Details

SNP ID

rs139103399

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:128169486 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGGTTTTGAAGTAGCGGTTGCAAA[C/T]GGTGCAGAAGGGTCGCAAGGATTGT

Phenotype

MIM: 611420

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

C9orf16 PubMed Links

Gene Details

Gene

C9orf16

Gene Name

chromosome 9 open reading frame 16

There are no transcripts associated with this gene.

Gene

CIZ1

Gene Name

CDKN1A interacting zinc finger protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001131015.1	2268	Missense Mutation	ATT,GTT	I633V	NP_001124487.1
NM_001131016.1	2268	Missense Mutation	ATT,GTT	I689V	NP_001124488.1
NM_001131017.1	2268	Missense Mutation	ATT,GTT	I628V	NP_001124489.1
NM_001131018.1	2268	Missense Mutation	ATT,GTT	I609V	NP_001124490.1
NM_001257975.1	2268	Missense Mutation	ATT,GTT	I745V	NP_001244904.1
NM_001257976.1	2268	Missense Mutation	ATT,GTT	I588V	NP_001244905.1
NM_012127.2	2268	Missense Mutation	ATT,GTT	I689V	NP_036259.2
XM_005251888.3	2268	Missense Mutation	ATT,GTT	I689V	XP_005251945.2
XM_005251891.3	2268	Missense Mutation	ATT,GTT	I633V	XP_005251948.2
XM_005251892.3	2268	Missense Mutation	ATT,GTT	I628V	XP_005251949.2
XM_005251893.4	2268	Missense Mutation	ATT,GTT	I609V	XP_005251950.4
XM_006717039.3	2268	Missense Mutation	ATT,GTT	I660V	XP_006717102.2
XM_011518481.1	2268	Missense Mutation	ATT,GTT	I684V	XP_011516783.1
XM_011518482.2	2268	Missense Mutation	ATT,GTT	I665V	XP_011516784.2
XM_011518483.1	2268	Missense Mutation	ATT,GTT	I665V	XP_011516785.1
XM_017014594.1	2268	Missense Mutation	ATT,GTT	I719V	XP_016870083.1
XM_017014595.1	2268	Missense Mutation	ATT,GTT	I684V	XP_016870084.1
XM_017014596.1	2268	Missense Mutation	ATT,GTT	I633V	XP_016870085.1

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