Product Details

SNP ID

rs75246236

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:34845500 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCATACCTACAGGTCACAGCAAACC[A/G]AGATCCCAGCTCACCAGCAAACAGA

Phenotype

MIM: 616344

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

TTC23L PubMed Links

Gene Details

Gene

TTC23L

Gene Name

tetratricopeptide repeat domain 23 like

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001317949.1	366	Missense Mutation	AAG,GAG	K37E	NP_001304878.1
NM_144725.3	366	Missense Mutation	AAG,GAG	K28E	NP_653326.3
XM_011513984.2	366	Missense Mutation	AAG,GAG	K28E	XP_011512286.1
XM_011513985.2	366	Missense Mutation	AAG,GAG	K28E	XP_011512287.1
XM_011513987.2	366	Missense Mutation	AAG,GAG	K28E	XP_011512289.1
XM_017009119.1	366	Missense Mutation	AAG,GAG	K37E	XP_016864608.1
XM_017009120.1	366	Missense Mutation	AAG,GAG	K28E	XP_016864609.1
XM_017009121.1	366	Missense Mutation	AAG,GAG	K28E	XP_016864610.1
XM_017009122.1	366	Missense Mutation	AAG,GAG	K28E	XP_016864611.1
XM_017009123.1	366	Missense Mutation	AAG,GAG	K28E	XP_016864612.1
XM_017009124.1	366	Intron			XP_016864613.1
XM_017009125.1	366	Intron			XP_016864614.1
XM_017009126.1	366	Intron			XP_016864615.1

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