Product Details

SNP ID

rs74867920

Assay Type

Functionally tested

NCBI dbSNP Submissions

6

Location

Chr.1:2591603 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACGTCTGTCTTGATGGATTGGATGG[C/G]GAACTCGGGCCGGTAGGACCCGCAC

Phenotype

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

FAM213B PubMed Links

Gene Details

Gene

FAM213B

Gene Name

family with sequence similarity 213 member B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001195736.1	2674	Intron			NP_001182665.1
NM_001195737.1	2674	Intron			NP_001182666.1
NM_001195738.1	2674	Intron			NP_001182667.1
NM_001195740.1	2674	Intron			NP_001182669.1
NM_001195741.1	2674	Intron			NP_001182670.1
NM_152371.3	2674	Intron			NP_689584.2
XM_006710354.3	2674	Intron			XP_006710417.1
XM_011540664.1	2674	Intron			XP_011538966.1
XM_011540665.1	2674	Intron			XP_011538967.1
XM_011540666.1	2674	Intron			XP_011538968.1

Gene

LOC100996583

Gene Name

uncharacterized LOC100996583

There are no transcripts associated with this gene.

Gene

MMEL1

Gene Name

membrane metallo-endopeptidase-like 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_033467.3	2674	Missense Mutation	CCC,GCC	P732A	NP_258428.2
XM_011542122.2	2674	Missense Mutation	CCC,GCC	P475A	XP_011540424.1
XM_017002310.1	2674	Missense Mutation	CCC,GCC	P732A	XP_016857799.1
XM_017002311.1	2674	Missense Mutation	CCC,GCC	P714A	XP_016857800.1
XM_017002312.1	2674	Missense Mutation	CCC,GCC	P706A	XP_016857801.1
XM_017002313.1	2674	Missense Mutation	CCC,GCC	P700A	XP_016857802.1
XM_017002314.1	2674	Missense Mutation	CCC,GCC	P689A	XP_016857803.1
XM_017002315.1	2674	Missense Mutation	CCC,GCC	P628A	XP_016857804.1

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