Product Details

SNP ID

rs180907536

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:85979723 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAGGGGGGTTATCAGGAATGTCAA[A/G]TGACTCCTCTTCAAAATCATCATCC

Phenotype

MIM: 607385

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

MGAT4C PubMed Links

Gene Details

Gene

MGAT4C

Gene Name

MGAT4 family member C

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_013244.3	1335	Missense Mutation	CTT,TTT	L335F	NP_037376.2
XM_005268776.4	1335	Missense Mutation	CTT,TTT	L364F	XP_005268833.1
XM_005268779.3	1335	Missense Mutation	CTT,TTT	L335F	XP_005268836.1
XM_011538150.2	1335	Missense Mutation	CTT,TTT	L373F	XP_011536452.1
XM_011538151.2	1335	Missense Mutation	CTT,TTT	L373F	XP_011536453.1
XM_011538156.2	1335	Missense Mutation	CTT,TTT	L335F	XP_011536458.1
XM_011538157.2	1335	Missense Mutation	CTT,TTT	L335F	XP_011536459.1
XM_017019143.1	1335	Missense Mutation	CTT,TTT	L384F	XP_016874632.1
XM_017019144.1	1335	Missense Mutation	CTT,TTT	L373F	XP_016874633.1
XM_017019145.1	1335	Missense Mutation	CTT,TTT	L364F	XP_016874634.1
XM_017019146.1	1335	Missense Mutation	CTT,TTT	L364F	XP_016874635.1
XM_017019147.1	1335	Missense Mutation	CTT,TTT	L364F	XP_016874636.1
XM_017019148.1	1335	Missense Mutation	CTT,TTT	L335F	XP_016874637.1
XM_017019149.1	1335	Missense Mutation	CTT,TTT	L335F	XP_016874638.1
XM_017019150.1	1335	Missense Mutation	CTT,TTT	L335F	XP_016874639.1

View Full Product Details